Kurt Hirschhorn
Born | 1926 |
Died |
Related eponyms
Biography of Kurt Hirschhorn
Kurt Hirschhorn was born to Emanuel Hirschhorn and his wife Helen, nee Mayberger. His father had dual degrees in law and business administration and worked in the lumber industry in Europe.
His two main avocations growing up were mathematics and music. He received his early education in Vienna, where the family lived comfortably until the Anschluss with Germany in 1938. He was immediately expelled from an elite school and forced into a school that was set up for Jewish students. His father was imprisoned because he was Jewish and active in the social democratic party. However, his mother was able to obtain a two week transit visa to Switzerland and, through family contacts, secure the release of Kurt's father from prison. The family then crossed the border to Switzerland where they stayed for 10 months. They eventually came to the United States via England on a convoy of 40 boats, of which three were torpedoed.
After three months in New York the family settled in Pittsburgh, where he entered an academically rigorous public high school. He graduated at the age of 17 ½ and completed one term as chemistry major at the University of Pittsburgh. At 18 he volunteered for the army. When he was demobilised in 1947 he settled in New York City where his parents now lived. He continued with his studies, obtaining his BA cum laude in 1950 from New York University and the MD Degree in 1954 from New York University School of Medicine. He was elected to both Phi Beta Kappa and Alpha Omega Kappa.
He graduated from New York University in 1954 and then served his residency in internal medicine at Bellevue Hospital, New York. He remained there as a fellow in metabolic diseases and got a master's degree in genetics from New York University.
Hirschhorn and his wife Rochelle then travelled to Sweden where he undertook a fellowship in human genetics at the University of Uppsala under the mentorship of Marco Fraccaro. At the time, the Institute of Human Genetics in Uppsala was still called the Institute for Race Biology. During this year he learned a number of important techniques including tissue culture and completed the work that was eventually published in Science in 1959 on the incidence of familial hyperlipidaemia.
In 1958 he was appointed to the staff of the New York University School of Medicine. At that time Rochelle began her internship at Bellevue. At the university Hirschhorn started a genetics clinic and a course for medical students, ”at a time when genetics in the general medical opinion had much to do with fruit flies and nothing to do with people” (Barton Childs, M.D., of Johns Hopkins University Hospital). By the mid 1960s, his research group had had grown to 14 people who were crammed into 800 square feet.
He decided to move on, and in 1966 Hirschhorn became professor of paediatrics at Mount Sinai School of Medicine in New York where he established a new medical genetics programme. In 1969 Hirschhorn was co-founder of the first program in genetic counselling in the United States at Sarah Lawrence College in Bronxville, N.Y. It remains the largest program of its kind in the country.
From 1968 to 1976 Hirschhorn was the Arthur J. and Nellie Z. Cohen professor of genetics at Mount Sinai School of Medicine. In 1976, Horace L. Hodes (1907-1989) stepped down as chair of paediatrics and Hirschhorn became interim chair. In 1977 he was named Herbert H. Lehman Professor and chairman of the department of paediatrics at Mount Sinai School of Medicine and paediatrician-in-chief at Mount Sinai Hospital. He stepped down from these positions in 1995 and returned to research as professor of paediatrics, human genetics and medicine.
Hirschhorn’s work in genetics began with studies of hypercholestgerolaemia and other lipid disorders and, while in Sweden, he the fields of tissue culture genetics and cytogenetics. At Mount Sinai he became involved with various aspects of biochemical genetics and, later, in molecular genetics. In the early 1960s he discovered the mixed lymphocyte reaction which was fundamental to the fields of cellular immunology and immunogenetics. He also made major contributions to the understanding of several inborn errors, including lysosomal enzyme defects and Menkes’ syndrome. Hirschhorn’s long-standing interest and leadership in medical genetics has resulted in the publication of more than 350 articles and book chapters and he was co-editor of Advances in Human Genetics for several years.
Hirschhorn met his future wife Rochelle Reibman while he was a junior medical student and she was a senior student at Barnard College. They were married five months later and have three children, Joel and Lisa who are also medically qualified, and Melanie, an attorney.
Rochelle Hirschhorn MD, also a major contributor in the field of human genetics, is (2008) Professor Emerita of Medicine, Cell Biology and Pediatrics, Research professor of Medicine, New York University.
On March 24, 2006, Kurt R. Hirschhorn received the 2006 March of Dimes/Colonel Harland Sanders Award for lifetime achievement in the field of genetic sciences.
By 2008 he was Professor Emeritus of Pediatrics, Genetics and Genomic Sciences, and Medicine, and Chairman Emeritus of the Department of Pediatrics, Mount Sinai School of Medicine.
- Biographisches Handbuch der deutschsprachigen Emigration nach 1933.
Volume 2. München 1983 - Peter Beighton & Gretha Beighton:
The Person Behind the Syndrome. Springer-Verlag London Limited, 1997. - Kurt Hirschhorn Interview, August 7, 2002.
Oral History of Human Genetics Project. UCLA and Johns Hopkins University. - Barton Childs:
Introductory Speech for Kurt Hirschhorn.
The American Journal of Human Genetics, Chicago, February 2003, 72 (2): 241. - Frederick J. Suchy:
Introduction of the American Pediatric Society's 2006 John Howland Award Recipient, Kurt Hirschhorn, M.D.
- March of Dimes homepage, December 2006.
We thank Patrick Jucker-Kupper, Switzerland, for information submitted.
Bibliography
- 1955
- Patterns of surface temperature response to various agents.
L. Wertheimer, W. Redish, K. Hirschhorn, J. M. Steele.
Circulation, Dallas, Texas, January 1955, 11 (1): 110-114. - Role of inactivity in production of disease; hypokinetic disease.
H. Kraus, B. P Hirschland, K. Hirschhorn.
Journal of the American Geriatrics Society, New York, May 1956, 4 (5): 463-471. - Low back pain.
K. Hirschhorn.
Medical Times, Port Washington, NY, July 1956, 84 (7): 727-739. - Hypokinetic disease; role of inactivity in production of disease.
K. Hirschhorn, B. P Hirschland, H. Kraus.
The British Journal of Physical Medicine, London, August 1956, 19 (8): 180-185. 1959 - The mode of inheritance in essential familial hypercholesterolemia.
K. Hirschhorn, C. F. Wilkinson Jr.
The American Journal of Medicine, New York, January 1959, 26 (1): 60-67. - Incidence of familial hyperlipemia.
K. Hirschhorn, R. Hirschhorn, Marco Fraccaro (1926-2008), J. A. Book.
Science, Washington DC, March 13, 1959, 129 (3350): 716-717. 1960 - Klinefelter's syndrome in a ten-month-old mongolian idiot: report of a case with chromosome analysis.
J. T. Lanman, B. S. Sklarin, H. L. Cooper, K. Hirschhorn.
The New England Journal of Medicine, Boston, November 3, 1960, 263: 887-890. - Human intersex with chromosome mosaicism of type XY/XO. Report of a case.
K. Hirschhorn, W. H. Decker, H. L. Cooper.
The New England Journal of Medicine, November 24, 1960, 263: 1044-1048. 1961 - Virus resistance and sensitivity in cultured human synovial cells as a possible genetic marker.
L. N. Chessin, K. Hirschhorn.
Experimental Cell Research, New York, February 1961, 23: 138-144. - Recent developments in human cytogenetics.
J. Miller, H. L. Cooper, K. Hirschhorn.
Eugenics Quarterly, Chicago, March 1961, 8: 23-33. - Chromosomal aberrations in human disease. A review of the status of cytogenetics in medicine.
K. Hirschhorn, H. L. Cooper.
The American Journal of Medicine, New York, September 1961, 31: 442-470. - Culture of human white cells using differential leucocyte separation.
J. Hastings, S. Freedman, O. Rendon, H. L. Cooper, K. Hirschhorn.
Nature, London, December 23, 1961, 192: 1214-1215. 1962 - A genetic and metabolic study of a family with hyperlipemia.
G. Bialkin, S. Zucker, B. S. Sklarin, K. Hirschhorn, M. Davidson.
Pediatrics, April 1962, 29: 566-578. - Sex-chromosome mosaicism of type XYY/XO.
H. L. Cooper, H. S. Kupperman, O. RendonR, K. Hirschhorn.
The New England Journal of Medicine, Boston, April 5, 1962, 266: 699-702. - Enlarged satellites as a familial chromosome marker.
H. L. Cooper, K. Hirschhorn.
The American Journal of Human Genetics, June 1962, 14: 107-124. - Trisomy-17 syndrome. Report of three cases and review of the literature.
M. I. Gottlieb, K. Hirschhorn, H. L. Cooper, N. Lusskin, R. E. Moloshok, H. L. Hodes.
The American Journal of Medicine, New York, November 1962, 33: 763-773. 1963 - Mitogenic action of phytohaemagglutinin.
K. Hirschhorn, R. L. Kolodny, N. Hashem, F. Bach.
The Lancet, August 10, 1963, 2 (7302): 305-306. - Infantile eczema. Evidence of autoimmunity to human skin.
N. Hashem, K. Hirschhorn, E. Sedlis, L. E. Holt Jr.
The Lancet, 1963 Aug 10;2(7302):269-70. - Immune response and mitosis of human peripheral blood lymphocytes in vitro.
K. Hirschhorn, F. Bach, R. L. Kolodny, I. L. Firschein, N. Hashem.
Science, November 29, 1963, 142: 1185-1187. - Gamma-globulin production by human lymphocytes in vitro.
F. Bach, K. Hirschhorn.
Experimental Cell Research, New York, December 1963, 32: 592-595. 1964 - Early chromosomal changes in sv40-infected human fibroblast cultures.
S. R. Wolman, K. Hirschhorn, G. J. Todaro.
Cytogenetics, Basel, 1964, 3: 45-61. - Properties of phytohaemagglutinin.
R. L. Kolodny, K. Hirschhorn.
Nature, February 15, 1964, 201: 715-716. - Lymphocyte interaction: a potential histocompatibility test in vitro.
F. Bach, K. Hirschhorn.
Science, February 21, 1964, 143: 813-814. - Histocompatibility and immunologic competence in renal homotransplantation.
L. Rubin, K. H. Stenzel, K. Hirschhorn, F. Bach.
Science, Washington DC, February 1964, 143: 815-816. - Genetic activity of the x-chromosome in man.
K. Hirschhorn, I. L. Firschein.
Transactions of the New York Academy of Sciences, March 1964, 26: 545-552. - Recent advances in methodology of human genetics.
K. Hirschhorn.
Bulletin of the New York Academy of Medicine, May 1964, 40: 343-355. Review. - Agammaglobulinemia: the fundamental defect.
H. H. Fudenberg, K. Hirschhorn.
Science, Washington DC, August 7, 1964, 145: 611-612. - In-vitro studies of lymphocytes from patients with sarcoidosis and lymphoproliferative diseases.
K. Hirschhorn, R. R. Schreibmann, F. H. Bach, L. E. Siltzbach.
The Lancet, October 17, 1964, 2 (7364): 842-843. - The action of streptolysin s on peripheral lymphocytes of normal subjects and patients with acute rheumatic fever.
K. Hirschhorn, R. R. Schreibmann, S. Verbo, R. H. Gruskin.
Proceedings of the National Academy of Sciences of the United States of America, Washington DC, November 1964, 52: 1151-1157. - Immunological responses of human lymphocytes in vitro.
F. Bach, K. Hirschhorn, R. R. Schreibmann, C. Ripps.
Annals of the New York Academy of Sciences, November 30, 1964, 120: 299-302. - The relationship of in vitro lymphocyte compatibility to homograft sensitivity in man.
K. Hirschhorn, F. Bach, F. T. Rapaport, J. M. Converse, H. S. Lawrence.
Annals of the New York Academy of Sciences, November 30, 1964, 120: 303-306. 1965 - Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.
K. Hirschhorn, H. L. Cooper, I. L. Firschein.
Humangenetik, Berlin/Heidelberg/New York, 1965, 1 (5): 479-482. - Acid phosphatase-rich granules in human lymphocytes induced by phytohemagglutinin.
R. Hirschhorn, J. M. Kaplan, A. F. Goldberg, K. Hirschhorn, G. Weissmann.
Science, Washington DC, January 1, 1965, 147: 55-57. - The in vitro immune response of peripheral blood lymphocytes.
F. H. Bach, K. Hirschhorn.
Seminars in Hematology, January 1965, 148: 68-89. Review. - Role of lysosomes in lymphocyte response.
K. Hirschhorn, R. Hirschhorn.
The Lancet, May 15, 1965, 1 (7394): 1047. - Studies on the A, B, O(H) blood groups on human cells in culture.
L. N. Chessin, S. Bramson, W. J. Kuhns, K. Hirschhorn.
Blood, June 1965, 25: 944-953. - Suppression of in vitro lymphocyte responses by chloroquine.
D. Hurvitz, K. Hirschhorn.
The New England Journal of Medicine, Boston, July 1, 1965, 1; 273: 23-26. - Double Beta-Lipoprotein: A New Genetic Variant in Man.
W. Seegers, K. Hirschhorn, Burnett L, Robson E, Harris H.
Science, Washington DC, July 16, 1965, 149 (3681): 303-304. - Lymphocyte interaction in vitro.
K. Hirschhorn, C. S. Ripps.
Wistar Institute Symposium Monograph, August 1965, 3: 57-63. - Agammaglobulinemia: some current concepts.
H. H. Fudenberg, K. Hirschhorn. The Medical Clinics of North America, Philadelphia, November 1965, 49 (6): 1533-1552. Review. - Response of lymphocytes to tetracycline.
S. Ripps, M. J. Fellner, K. Hirschhorn.
The Lancet, November 6, 1965, 2 (7419): 951-952. 1966 - Stimulation of human tonsillar lymphocytes in vitro.
H. F. Oettgen, R. Silber, P. A. Miescher, K. Hirschhorn.
Clinical and Experimental Immunology, Oxford, January 1966, 1 (1): 77-84. - Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome.
J. Miller, W. R. Breg, D. Warburton, D. A. Miller, I. L. Firschein, K. Hirschhorn.
Cytogenetics, 1966, 5 (3): 137-151. - Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues.
M. R. Swift, K. Hirschhorn.
Annals of Internal Medicine, Philadelphia, September 1966, 65 (3): 496-503. 1967 - The response of cultured lymphocytes from patients with systemic lupus erythematosus to DNA.
A. Patrucco, N. F. Rothfield, K. Hirschhorn.
Arthritis and Rheumatism, Atlanta, Georgia, February 1967, 10 (1): 32-37. - Chromosomal abnormalities in congenital rubella.
J. Nusbacher, K. Hirschhorn, L. Z. Cooper.
The New England Journal of Medicine, Boston, June 22, 1967, 276 (25): 1409-1413. - The production of immunoglobulins by human peripheral blood lymphocytes in vitro.
S. Ripps, K. Hirschhorn.
Clinical and Experimental Immunology, Oxford, July 1967, 2 (4): 377-398. - Oral-facial-digital syndrome in a chromosomally normal male.
F. Mandell, P. L. Ogra, Horowitz SL, K. Hirschhorn.
Pediatrics, July 1967, 40 (1): 63-68. - Appearance of hydrolase rich granules in human lymphocytes induced by phytohemagglutinin and antigens.
R. Hirschhorn, K. Hirschhorn, G. Weissmann.
Blood, New York, July 1967, 30 (1): 84-102. - Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia.
J. G. Rabinowitz, J. E. Moseley, H. A. Mitty, K. Hirschhorn.
Radiology, September 1967, 89 (3): 488-491. - Nonpsychic effects of lysergic acid diethylamide.
K. Hirschhorn, M. M. Cohen.
Annals of Internal Medicine, Philadelphia, November 1967, 67 (5): 1109-1111. - In vivo and in vitro chromosome damage induced by LSD-25.
M. M. Cohen, K. Hirschhorn, W. A. Frosch. The New England Journal of Medicine, Boston, November 16, 1967, 227 (20): 1043-1049. - Response of lymphocytes to penicillin: comparison with skin tests and circulating antibodies in man.
M. J. Fellner, R. L. Baer, C. S. Ripps, K. Hirschhorn.
Nature, London, November 25, 1967, 216 (5117): 803-804. 1968 - Discussion of lymphocyte transformation.
K. Hirschhorn.
Federation Proceedings, January-February 1968, 27 (1): 31-32. - [Lysosome changes in brief unspecific stimulation of small blood lymphocytes in vitro]
G. Brittinger, K. Hirschhorn, R. Hirschhorn, G. Weissmann.
Verhandlungen der Deutschen Gesellschaft für innere Medizin, München, 1968, 74: 1256-1260. German. - LSD and chromosomes.
M. M. Cohen, K. Hirschhorn, W. A. Frosch.
The New England Journal of Medicine, Boston, January 25, 1968, 278 (4): 223. - Studies on lysosomes : XII. Redistribution of Acid Hydrolases in Human Lymphocytes Stimulated by Phytohemagglutinin.
Rochelle Hirschhorn, Günter Brittinger, Kurt Hirschhorn, Gerald Weissmann.
The Journal of Cell Biology, New York, May 1968, 37 (2): 412-423. - Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism.
Lillian Y. F. Hsy, Sophie Paciuc, Karen David, Steluta Cristian, Ralph Moloshok, Kurt Hirschhorn
Journal of Medical Genetics, London, June 1978, 15 (3): 222–226. - Studies on lysosomes. XII. Redistribution of acid hydrolases in human lymphocytes stimulated by phytohemagglutinin.
R. Hirschhorn, G. Brittinger, K. Hirschhorn, G. Weissmann.
The Journal of Cell Biology, New York, May 1968, 37 (2): 412-423. - Drug-induced chromosomal aberrations.
K. Hirschhorn, M. M. Cohen.
Annals of the New York Academy of Sciences, July 31, 1968, 151 (2): 977-987. - The effect of LSD-25 on the chromosomes of children exposed in utero.
M. M. Cohen, K. Hirschhorn, S. Verbo, W. A. Frosch, M. M. Groeschel.
Pediatric Research, November 1968, 2 (6): 486-492. - The response of lymphocytes from non-immunized humans to antigen-antibody complexes.
N. Bloch-Shtacher, K. Hirschhorn, J. W. Uhr.
Clinical and Experimental Immunology, Oxford, November 1968, 3 (9): 889-899. - Lymphoid suspension cultures from patients with viral hepatitis.
P. R. Glade, Y. Hirshaut, Douglas SD, K. Hirschhorn.
The Lancet, December 14, 1968, 2 (7581): 1273-1275. 1969 - Stability of HL-A and appearance of other antigens (LIVA) at the surface of lymphoblasts grown in vitro.
D. Bernoco, P. R. Glade, S. Broder, V. C. Miggiano, K. Hirschhorn, R. Ceppellini.
Haematologica, Roma, 1969, 54 (11): 795-812. - Hybridization of cultured human amnion and mouse thymidine kinase-less L-cells.
J. H. Conover, K. Hirschhorn.
Wistar Institute Symposium Monograph, 1969, 9: 113-115. - Hybridization of cultured human amnion and mouse thymidine kinase-less L-cells.
J. H. Conover, K. Hirschhorn.
Wistar Institute Symposium Monograph, 1969, 9: 113-115. - Response of Agammaglobulinemic Lymphocytes in Mixed Lymphocyte Culture.
E. Lieber, K. Hirschhorn and Hugh H. Fudenberg
Clinical and Experimental Immunology, Oxford, January 1969, 4 (1): 83-91. - Neonatal hepatitis and biliary atresia associated with trisomy 17-18 syndrome.
L. I. Alpert, L. Strauss, K. Hirschhorn.
The New England Journal of Medicine, Boston, January 2, 1969, 280 (1): 16-20. - Effect of pokeweed mitogen (PWM) on lymphocyte lysosomes.
G. Brittinger, R. Hirschhorn, K. Hirschhorn, G. Weissmann.
The Journal of Cell Biology, New York, March 1969, 40 (3): 843-846. - Hereditary optic atrophy. An autosomal dominant with incomplete penetrance.
L. R. Shapiro, E. RaabL, I. H. Leopold, K. Hirschhorn.
Archives of Ophthalmology, Chicago, March 1969, 81 (3): 359-362. - Cytogenetic effects of tranquilizing drugs in vivo and in vitro.
M. M. Cohen, K. Hirschhorn, W. A. Frosch.
JAMA, March 31, 1969, 207 (13): 2425-2426. - Electron Microscopy of Herpes-Like Particles in Lymphoid Suspension Cultures Derived from Patients with Acute Viral (Serum) Hepatitis.
Steven D. Douglas, Philip R. Glade, Hugh H. Fudenberg and K. Hirschhorn.
Journal of Virology, Baltimore, May 1969, 3 (5): 520-524. - Herpes-like virus.
Philip. R. Glade, K. Hirschhorn, Steven D. Douglas
The Lancet, May 24, 1969, 1 (7604): 1049-1050. - A homozygous chromosomal variant.
K. Hirschhorn.
The Lancet, May 31, 1969, 1 (7605): 1100. - Lymphoproliferative potential in infectious diseases.
P. R. Glade, I. M. Paltrowitz, K. Hirschhorn.
Bulletin of the New York Academy of Medicine, July 1969, 45 (7): 647-656. - Partial thyroxine-binding globulin deficiency in a family.
R. E. Moloshok, L. Y. Hsu, U. S. Seal, K. Hirschhorn.
Pediatrics, October 1969, 44 (4): 518-525. - L-asparaginase and blastogenesis.
M. S. Weiner, W. I. Waithe, K. Hirschhorn.
The Lancet, October 4, 1969, 2 (7623): 748. - Circulating lymphoid cells in chronic viral keratitis.
W. L. Henley, I. M. Paltrowitz, I. H. Leopold, K. Hirschhorn, P. R. Glade.
American Journal of Ophthalmology, November 1969, 68 (5): 824-828. - Neonatal Klinefelter's syndrome.
J. B. Edlow, L. R. Shapiro, L. Y. Hsu, K. Hirschhorn.
American Journal of Diseases of Children, November 1969, 118 (5): 788-791. - Research trends in genetics and immunology.
K. Hirschhorn.
American Journal of Diseases of Children, Chicago, December 1969, 118 (6): 824-829. - Pompe's disease: detection of heterozygotes by lymphocyte stimulation.
K. Hirschhorn, H. L. Nadler, W. I. Waithe, B. I. Brown, R. Hirschhorn.
Science, Washington DC, December 26, 1969, 166 (913): 1632-1633. 1970 - XXXXY boy. A 15-month-old child with normal intellectual development.
L. R. Shapiro, L. Y. Hsu, M. E. Calvin, K. Hirschhorn.
American Journal of Diseases of Children, Chicago, January 1970, 119 (1): 79-81. - Cytogenetic and immunologic abnormalities related to leukemia.
K. Hirschhorn.
Proceedings. National Cancer Conference, Philadelphia, 1970, 6: 107-112. - Prenatal chromosome analysis.
F. Lisgar, M. Gertner, Cherry S, L. Y. Hsu, K. Hirschhorn.
Nature, London, January 17, 1970, 225 (5229): 280-281. - Chromosome abnormality in offspring of LSD user. D trisomy with D-D translocation.
L. Y. Hsu, L. Strauss and K. Hirschhorn:
JAMA, February 9, 1970, 211 (6): 987-990. - Persistence of phosphoglucomutase (PGM) polymorphism in long-term lymphoid lines.
J. H. Conover, P. Hathaway, P. R. Glade, K. Hirschhorn.
Proceedings of the Society for Experimental Biology and Medicine, March 1970, 133 (3): 750-753. - Genetic and clinical considerations of long-arm deletion of the X chromosome.
L. Y. Hsu, K. Hirschhorn.
Pediatrics, April 1970, 45 (4): 656-664. - Establishment of long-term lines from small aliquots of normal lymphocytes.
S. W. Broder, P. R. Glade, K. Hirschhorn.
Blood, New York, April 1970, 35 (4): 539-542. - Sex chromosome mosaicism in 3 sibs. Clinical and pathologic aspects.
A. Goldstein, R. Hausknecht, L. Y. Hsu, H. Brendler, K. Hirschhorn.
American Journal of Obstetrics and Gynecology, St. Louis, May 1, 1970, 107 (1): 108-115. - Advances in Human Genetics.
Harry Harris and Kurt Hirschhorn, editors.
Volume 1. Kluwer Academic / Plenum Publishing Corporation 1970; 1991-1992; 1995-1902. - Genetic counseling. Summary of Symposium.
K. Hirschhorn.
Birth Defects. Original Article Series, May 1970, 6 (1): 80-84. - Guide to human chromosome defects.
A. Redding and K. Hirshhorn:
Birth Defects. Original Article Series, May 1970, 6 (1): 91-106. - Meiosis in an XYY male.
L. Y. Hsu, L. R. Shapiro, K. Hirschhorn.
The Lancet, May 30, 1970, 1 (7657): 1173-1174. - Leukemia in Fanconi's anemia: cytogenetic and tumor virus susceptibility studies.
H. Dosik, L. Y. Hsu, G. J. Todaro, S. L. Lee, K. Hirschhorn, E. S. Selirio, A. A. Alter.
Blood, New York, September 1970, 36 (3): 341-352. - Products of lymphoid cells in continuous culture.
P. R. Glade, K. Hirschhorn.
The American Journal of Pathology, September 1970, 60 (3): 483-494. - Cellular immunity: immune responses and the herpes-like virus.
P. R. Glade, K. Hirschhorn.
Cellular Immunology, New York, October 1970, 1 (4): 359-361. - Extra posterior cervical skin: a possible sign of chromosomal aberration in infancy.
L. R. Shapiro, L. Y. Hsu, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, October 1970, 77 (4): 690-691. - Trisomy 18.
N. Kardon, L. Y. Hsu, N. Beratis, K. Hirschhorn.
The Lancet, October 10, 1970, 2 (7676): 782. - Parental chromosomal aberrations associated with multiple abortions and an abnormal infant.
L. Y. Hsu, M. Barcinski, L. R. Shapiro, E. Valderrama, M. Gertner, K. Hirschhorn.
Obstetrics and Gynecology, Philadelphia, November 1970, 36 (5): 723-730. - The use of amniocentesis for prenatal genetic counseling.
M. Gertner, L. Y. Hsu, J. Martin, K. Hirshhorn:
Bulletin of the New York Academy of Medicine, November 1970, 46 (11): 916-921 - Heritability of ocular pressure in normal and suspect ranges.
R. Z. Levene, P. L. Workman, S. W. Broder, K. Hirschhorn.
Archives of Ophthalmology, Chicago, December 1970, 84 (6): 730-734. - Properties of placental alkaline phosphatase. I. Molecular size and eletrical charge of the various electrophoretic components of the six common phenotypes.
N. G. Beratis, W. Seegers, K. Hirschhorn.
Biochemical Genetics, New York, December 1970, 4 (6): 689-705. - Lymphocyte stimulation by allogeneic and autochthonous cultured lymphoid cells.
J. S. Flier, P. R. Glade, S. W. Broder, K. Hirschhorn.
Cellular Immunology, New York, December 1970, 1 (6): 596-602. - Advances in Human Genetics.
Harry Harris and Kurt Hirschhorn, editors.
Volume 1. Plenum Publishing Corporation 1970. 1971 - Human chromosome identification by differential staining: G goup (21-22-Y).
P. R. Chernay, L. Y. Hsu, Streicher H, K. Hirschhorn.
Cytogenetics, Basel, 1971, 10 (3): 219-224. - IV. Production of human-mosquito somatic cell hybrids and their response to virus infection.
J. H. Conover, H. D. Zepp, K. Hirschhorn, Hodes HL.
Current Topics in Microbiology and Immunology, Berlin, 1971,55: 85-92. - Familial de Lange syndrome. Report of three cases in a sibship.
N. G. Beratis, L. Y. Hsu, K. Hirschhorn.
Clinical Genetics, Copenhagen, 1971, 2 (3): 170-176. - Establishment and genetic stability of human amnion cell lines.
J. H. Conover, K. Hirschhorn.
Laboratory Investigation, New York, January 1971, 24 (1): 38-40. - Human-mosquito somatic cell hybrids induced by ultraviolet-inactivated Sendai virus.
H. D. Zepp, J. H. Conover, K. Hirschhorn, Hodes HL.
Nature New Biology, London, January 27, 1971, 229 (4): 119-121. - Identification of Y and X chromosomes in amniotic fluid cells.
A. Rook, L. Y. Hsu, M. Gertner, K. Hirschhorn.
Nature, March 5, 1971, 230 (5288): 53. - Establishment of lymphoid cell lines in patients with common viral diseases.
M. Paltrowitz, Y. Hirshaut, P. Papenhausen, W. Henley, K. Hirschhorn, P. R. Glade.
The Mount Sinai Journal of Medicine, New York, May-June 1971, 38 (3): 284-292. - On re-doing man. K. Hirschhorn.
Annals of the New York Academy of Sciences, June 7, 1971, 184: 103-112. - Trisomy 22: a clinical entity.
L. Y. Hsu, L. R. Shapiro, M. Gertner, E. Lieber, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, July 1971, 79 (1): 12-19. - The origin of some bone marrow fibroblasts.
J. Hentel, K. Hirschhorn.
Blood, July 1971, 38 (1): 81-86. - Properties of placental alkaline phosphatase. II. Interactions of fast- and slow-migrating components.
N. G. Beratis, W. Seegers, K. Hirschhorn.
Biochemical Genetics, New York, August 1971, 5 (4): 367-377. - Unusual Turner mosaicism (45,X-47,XXX;45,X-46,XXqi;45,X-46,XXr): detection through deceleration from mormal linear growth or secondary amenorrhea.
L. Y. Hsu, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, August 1971, 79 (2): 276-281. - 47,XXY-48,XXXY-49,XXXXY mosaicism in a 4-year-old child.
N. B. Kardon, N. G. Beratis, L. Y. Hsu, R. E. Moloshok, K. Hirschhorn.
American Journal of Diseases of Children, Chicago, August 1971, 122 (2): 160-162. - Deceleration of intellectual development in a XXXXY child: a follow-up.
L. R. Shapiro, C. B. Brill, L. Y. Hsu, M. E. Calvin, K. Hirschhorn.
American Journal of Diseases of Children, Chicago, August 1971, 122 (2): 163-164. - A case of cri-du-chat associated with cataracts and transmitted from a mother with a 4-5 translocation.
H. Grotsky, L. Y. Hsu, K. Hirschhorn.
Journal of Medical Genetics, London, September 1971, 8 (3): 369-371. - Paternal trisomy 21 mosaicism and Down's syndrome.
L. Y. Hsu, M. Gertner, E. Leiter, K. Hirschhorn.
The American Journal of Human Genetics, November 1971, 23 (6): 592-601. - Protein synthesis in stimulated lymphocytes. I. Conditions and results of an assay system.
W. I. Waithe, P. Hathaway, K. Hirschhorn.
Clinical and Experimental Immunology, Oxford, December 1971, 9 (6): 903-913. 1972 - Problems in prenatal diagnosis resulting from chromosomal mosaicism.
N. B. Kardon, P. R. Chernay, L. Y. Hsu, J. L. Martin, K. Hirschhorn.
Clinical Genetics, Copenhagen, 1972, 3 (2): 83-89. - A differential staining technique for chromosome identification and its comparison with fluorescence technique.
P. R. Chernay, N. B. Kardon, L. Y. Hsu, L. R. Shapiro, N. G. Beratis, J. Kerr, K. Hirschhorn.
Clinical Genetics, Copenhagen, 1972, 3 (5): 347-356. - Cellular immunity in chronic ophthalmic disorders. I. Lymphocyte stimulation and protein synthesis.
W. L. Henley, S. Okas, W. Waithe, K. Hirschhorn, I. H. Leopold.
American Journal of Ophthalmology, January 1972, 73 (1): 56-61. - The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.
B. Brill, L. Y. Hsu, K. Hirschhorn.
Clinical Genetics, Copenhagen, 1972, 3 (5): 295-302. - Pitfalls in prenatal diagnosis resulting from chromosomal mosaicism.
N. B. Kardon, P. R. Chernay, L. Y. Hsu, J. L. Martin, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, February 1972, 80 (2): 297-299. - Properties of placental alkaline phosphatase. 3. Thermostability and urea inhibition of isolated components of the three common phenotypes.
N. G. Beratis, K. Hirschhorn.
Biochemical Genetics, New York, February 1972, 6 (1): 1-8. - Oral contraceptives and in vivo cytogenetic studies.
L. R. Shapiro, Z. R. Graves, K. Hirschhorn.
Obstetrics and Gynecology, Philadelphia, February 1972, 39 (2): 190-192. - Low X-chromatin frequency and frequency of inviable cells.
L. Y. Hsu, K. Hirschhorn.
The Lancet, February 12, 1972, 1 (7746): 385. - Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution.
L. Nicolis, L. Y. Hsu, R. Sabetghadam, N. B. Kardon, P. R. Chernay, D. P. Mathur, H. G. Rose, K. Hirschhorn, J. L. Gabrilove.
The American Journal of Medicine, New York, April 1972, 52 (4): 482-491. - Metabolism of testosterone- 14 C by cultured human cells.
D. Shanie, K. Hirschhorn, M. I. New.
The Journal of Clinical Investigation, June 1972, 51 (6): 1459-1468. - Chromosomal localization of human haemoglobin structural genes.
P. M. Price, J. H. Conover, K. Hirschhorn.
Nature, London, June 9, 1972, 237 (5354): 340-342. - Practical and ethical problems in human genetics.
K. Hirschhorn.
Birth Defects. Original Article Series, July 1972, 8 (4): 17-30. - Fetal wastage and maternal mosaicism.
L. Y. Hsu, F. P. Garcia, D. Grossman, E. Kutinsky, K. Hirschhorn.
Obstetrics and Gynecology, Philadelphia, July 1972, 40 (1): 98-103. - Detection of cystathionine synthase in long-term lymphoid-cell lines.
L. D. Fleisher, N. G. Beratis, K. Hirschhorn, G. E. Gaull.
The Lancet, September 2, 1972, 2 (7775): 482. - The potential usefulness of computerized chromosome analysis in human genetics.
L. Y. Hsu, K. Hirschhorn.
Computers in Biology and Medicine, Oxford NY, October 1972, 2 (2): 99-106. Review. - Recurrent abortions and chromosome abnormalities.
M. Lucas, I. Wallace, K. Hirschhorn.
The Journal of Obstetrics and Gynaecology of the British Commonwealth, London, December 1972, 79 (12): 1119-1127. - Parental mosaicism in trisomy 18.
N. G. Beratis, N. B. Kardon, L. Y. Hsu, D. Grossman, K. Hirschhorn.
Pediatrics, December 1972, 50 (6): 908-911. - Stability of trisomic (47, 18+) cells in long-term mosaic skin fibroblast culture.
N. G. Beratis, L. Y. Hsu, E. Kutinsky, K. Hirschhorn.
Canadian Journal of Genetics and Cytology, December 1972, 15 (4): 869-870. 1973 - In situ hybridization of RD114-virus RNA with human metaphase chromosomes.
P. M. Price, K. Hirschhorn, N. Gabelman, S. Waxman.
Proceedings of the National Academy of Sciences of the United States of America, Washington DC, January 1973, 70 (1): 11-14. - Chromosome identification.
K. Hirschhorn.
Annual Review of Medicine, Palo Alto, California, 1973, 24: 67-74. Review. - The biology of the lymphocyte in culture.
K. Hirschhorn.
Birth Defects. Original Article Series, January 1973, 9 (1): 9-12. - Reciprocal translocation versus centric fusion between two No. 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12).
L. Y. Hsu, H. J. Kim, E. Sujansky, B. Kousseff, K. Hirschhorn.
Cytogenetics and Cell Genetics, Basel, 1973, 12 (4): 235-244. - Prenatal diagnosis of trisomy 18. Pathologic findings in 20-week conceptus.
L. Y. Hsu, L. Strauss, Dubin E, K. Hirschhorn.
American Journal of Diseases of Children, Chicago, February 1973, 125 (2): 290-292. - Precise identification of various chromosomal abnormalities.
K. Hirschhorn, M. Lucas, I. Wallace.
Annals of Human Genetics, Cambridge UK, April 1973, 36 (4): 375-379. - Studies on ciliary dyskinesia factor in cystic fibrosis. II. Short term leukocyte cultures and long term lymphoid lines.
J. H. Conover, N. G. Beratis, E. J. Conod, E. Ainbender, K. Hirschhorn.
Pediatric Research, April 1973, 7 (4): 224-228. - Studies on ciliary dyskinesia factor in cystic fibrosis. I. Bioassay and heterozygote detection in serum.
J. H. Conover, R. J. Bonforte, P. Hathaway, S. Paciuc, E. J. Conod, K. Hirschhorn, F. B. Kopel.
Pediatric Research, April 1973, 7 (4): 220-223. - Human genetics.
K. Hirschhorn. JAMA, April 30, 1973, 224 (5): 597-604. - Serum-hexosaminidase levels in cystic fibrosis.
J. H. Conover, E. J. Conod, K. Hirschhorn.
The Lancet, May 19, 1973, 1 (7812): 1122. - Evolutionary significance of persistence of latent oncogenic virus information in vertebrates.
K. Hirschhorn, N. Gabelman, P. M. Price, S. Waxman.
The Lancet, May 26, 1973, 1 (7813): 1158-1159. Review. - Ciliary-dyskinesia factor in immunological and pulmonary disease.
J. H. Conover, E. J. Conod, K. Hirschhorn.
The Lancet, May 26, 1973, 1 (7813): 1194. - Results and pitfalls in prenatal cytogenetic diagnosis.
L. Y. Hsu, Dubin EC, T. Kerenyi, K. Hirschhorn.
Journal of Medical Genetics, London, June 1973, 10 (2): 112-119. - Diagnostic implications of drug-fetus interactions.
K. Hirschhorn. Clinical Pharmacology & Therapeutics, St. Louis, July-August 1973, 14 (4): 748-753. - Metachromatic leukodystrophy: detection in serum.
N. G. Beratis, A. M. Aron, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, November 1973, 83 (5): 824-827. - The effects of foetuin on lymphocytes: lymphocyte-stimulating property.
C. C. Hsu, W. I. Waithe, P. Hathaway, K. Hirschhorn.
Clinical and Experimental Immunology, Oxford, November 1973, 15 (3): 427-434. - Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.
L. D. Fleisher, H. H. Tallan, N. G. Beratis, K. Hirschhorn, G. E. Gaull.
Biochemical and Biophysical Research Communications, New York, November 1, 1973, 55 (1): 38-44. - Studies on ciliary dyskinesia factor in cystic fibrosis. 3. Skin fibroblasts and cultured amniotic fluid cells.
N. G. Beratis, J. H. Conover, E. J. Conod, R. J. Bonforte, K. Hirschhorn.
Pediatric Research, December 1973, 7 (12): 958-964. - Letter: Genetic heterogeneity in fucosidosis.
G. Kousseff, N. G. Beratis, C. Danesino, K. Hirschhorn.
The Lancet, December 15, 1973, 2 (7842): 1387-1388. - Letter: Complement components in cystic fibrosis.
J. H. Conover, E. J. Conod, K. Hirschhorn.
The Lancet, December 29, 1973, 2 (7844): 1501. 1974 - Trisomy D in bone marrow cells in a patient with chronic myelogenous leukemia.
L. Y. Hsu, P. Papenhausen, Greenberg ML, K. Hirschhorn.
Acta haematologica, Basel, 1974, 52 (1): 61-64. - Familial x/x translocation: t(x;x)(p22;q13).
J. Kim, L. Y. Hsu, K. Hirschhorn.
Cytogenetics and Cell Genetics, Basel, 1974, 13 (5): 454-464. - Trisomy 8 in bone marrow cells of patients with polycythemia vera and myelogenous leukemia.
L. Y. Hsu, A. V. Alter, K. Hirschhorn.
Clinical Genetics, Copenhagen, 1974, 6 (4): 258-264. - Proceedings: Report of the Committee on In Situ Hybridization.
K. Hirschhorn, Boyer S.
Cytogenetics and Cell Genetics, Basel, 1974, 13 (1): 55-57. - Total finger ridge count and 45,X mosaicism (with and without Y chromosome).
J. M. Kerr, L. Y. Hsu, P. Workman, K. Hirschhorn.
Clinical Genetics, Copenhagen, January 1974, 5 (1): 68-71. - Studies on ciliary dyskinesia factor in cystic fibrosis. IV. Its possible identification as anaphylatoxin (C3a)-IgG complex.
J. H. Conover, E. J. Conod, K. Hirschhorn.
Life Sciences, January 16, 1974, 14 (2): 253-266. - Letter: Acquired trisomies 12 and 7.
S. Kaffe, L. Y. Hsu, K. Hirschhorn.
The Lancet, February 16, 1974, 1 (7851): 261-262. - Letter: Bioassays of cystic-fibrosis factor.
B. H. Bowman, K. Hirschhorn, A. G. Bearn.
The Lancet, March 9, 1974, 1 (7854): 404-405. - Prenatal diagnosis of genetic disease.
L. Y. Hsu, K. Hirschhorn.
Life Sciences, June 16, 1974, 14 (12): 2311-2336. Review. - Letter: Long-arm deletion with features of Turner's syndrome.
J. Kim, L. Y. Hsu, K. Hirschhorn.
The Lancet, June 22, 1974, 1 (7869): 1296. - Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy.
N. G. Beratis, L. D. Fleisher, C. Danesino, K. Hirschhorn.
The Journal of Laboratory and Clinical Medicine, St. Louis, July 1974, 84 (1): 49-53. - Homocystinuria: investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status.
L. D. Fleisher, Longhi RC, H. H. Tallan, N. G. Beratis, K. Hirschhorn, G. E. Gaull.
The Journal of Pediatrics, St. Louis, November 1974, 85 (5): 677-680. - Isozymes of human alpha-L-fucosidase detectable by starch gel electrophoresis.
B. M. Turner, N. G. Beratis, V. S. Turner, K. Hirschhorn.
Clinica chimica acta, Amsterdam, November 20, 1974, 57 (1): 29-35. - Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.
S. Kaffe, L. Y. Hsu, K. Hirschhorn.
Journal of Medical Genetics, London, December 1974, 11 (4): 378-379. 1975 - Intracellular localization of the migration inhibitory factor (MIF) in a long-term human lymphoid cell line.
M. B. Prystowsky, C. F. Sorokin, W. S. Ceglowski, K. Hirschhorn, P. R. Glade.
International Archives of Allergy and Applied Immunology, Basel, 1975, 48 (2): 225-235. - Complement receptor in synchronized cultures of human hematopoietic cell lines.
P. Papenhausen, P. Papageorgiou, K. Hirschhorn.
The Journal of Immunology, Baltimore, January 1975, 114 (1 Pt 2): 519-521. - A (17;19) translocation, balanced, 46 chromosomes. Repository identification No. GM-271.
J. Kim, L. Y. Hsu, K. Hirschhorn, Miller RC, A. E. Greene, L. L. Coriell.
Cytogenetics and Cell Genetics, Basel, 1975, 14 (1): 92-93. - In situ hybridization for gene mapping.
P. M. Price, K. Hirschhorn.
Cytogenetics and Cell Genetics, Basel, 1975, 14 (3-6): 395-401. - Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292.
N. G. Beratis, B. G. Kousseff, K. Hirschhorn, A. E. Greene, L. L. Coriell.
Cytogenetics and Cell Genetics, Basel, 1975, 15 (3): 195-197. - In situ hybridization for gene mapping.
P. M. Price, K. Hirschhorn.
Birth Defects. Original Article Series, 1975, 11 (3): 225-231. - A (13;22) translocation, 46 chromosomes. Repository identification No. GM-627.
H. J. Kim, K. Hirschhorn, L. Y. Hsu, M. M. Aronson, A. E. Greene, L. L. Coriell.
Cytogenetics and Cell Genetics, Basel, 1975, 15 (6): 406-407. - The role and the hazards of amniocentisis.
K. Hirschhorn.
Annals of the New York Academy of Sciences, January 20, 1975, 240: 117-120. - Balanced translocation in fetal wastage.
H. J. Kim, B. G. Kousseff, L. Y. Hsu, K. Hirschhorn.
Obstetrics and Gynecology, Philadelphia, February 1975, 45 (2): 220-222. - Prenatal diagnosis of double trisomy.
Y. Hsu, L. Strauss, A. V. Alter, H. J. Kim, K. Hirschhorn.
American Journal of Diseases of Children, Chicago, March 1975, 129 (3): 381-382. - Roentgenographic findings in fucosidosis type 2.
P. W. Brill, N. G. Beratis, B. G. Kousseff, K. Hirschhorn.
The American Journal of Roentgenology, Radium Therapy and Nuclear Medicine, May 1975, 124 (1): 75-82. - Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.
N. G. Beratis, B. M. Turner, R. Weiss, K. Hirschhorn.
Pediatric Research, May 1975, 9(5): 475-480. - Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes.
N. G. Beratis, C. Danesino, K. Hirschhorn.
Annals of Human Genetics, Cambridge UK, May 1975, 38 (4): 485-493. - Protein synthesis in stimulated lymphocytes. II. Amino acid requirements.
W. I. Waithe, C. Dauphinais, P. Hathaway, K. Hirschhorn.
Cellular Immunology, New York, June 1975, 17 (2): 323-234. - Vinyl chloride exposure and human chromosome aberrations.
A. Ducatman, K. Hirschhorn, I. J. Selikoff.
Mutation Research, Amsterdam, June 1975, 31 (3): 163-168. - Demonstration of human leukocyte degranulation induced by sera from homozygotes and heterozygotes for cystic fibrosis.
J. Conod, J. H. Conover, K. Hirschhorn.
Pediatric Research, September 1975, 9 (9): 724-729. - Polymorphism of human alpha fucosidase.
M. Turner, V. S. Turner, N. G. Beratis, K. Hirschhorn.
The American Journal of Human Genetics, September 1975, 27 (5): 651-661. - Letter: Serum arylsulfatase An assay.
N. G. Beratis, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, October 1975, 87 (4): 669-670. - Silent allele as genetic basis of fucosidosis.
M. Turner, N. G. Beratis, V. S. Turner, K. Hirschhorn.
Nature, London, October 2, 1975, 257 (5525): 391-392. - Cytogenetics of fetal wastage.
H. J. Kim, L. Y. Hsu, S. Paciuc, S. Cristian, A. Quintana, K. Hirschhorn.
The New England Journal of Medicine, Boston, October 23, 1975, 293 (17): 844-847. - Kniest syndrome with dominant inheritance and mucopolysacchariduria.
H. J. Kim, N. G. Beratis, P. Brill, E. Raab, K. Hirschhorn, R. Matalon.
The American Journal of Human Genetics, November 1975, 27 (6): 755-764. - Skeletal abnormalities in the Kniest syndrome with mucopolysacchariduria.
P. W. Brill, H. J. Kim, N. G. Beratis, K. Hirschhorn.
The American Journal of Roentgenology, Radium Therapy and Nuclear Medicine, November 1975, 125 (3): 731-738. - In situ hybridization of chromosome loci.
P. M. Price, K. Hirschhorn.
Federation Proceedings, December 1975, 34 (13): 2227-2232. Review. - Fucosidosis: detection of the carrier state in peripheral blood leukocytes.
N. G. Beratis, B. M. Turner, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, December 1975, 87 (6 PT 2): 1193-1198. - Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms.
T. A. Pascal, G. E. Gaull, N. G. Beratis, B. M. Gillam, H. H. Tallan, K. Hirschhorn.
Science, Washington DC, Decembern 19, 1975, 190 (4220): 1209-1211. - Discussion paper: the role of cytogenetics in mutagenesis testing.
K Hirschhorn.
Annals of the New York Academy of Sciences, December 31, 1975, 269: 12-15. 1976 - Chromosomes and cancer.
K. Hirschhorn.
Birth Defects. Original Article Series, 1976, 12 (1): 113-121. - Prenatal diagnosis of genetic disease.
K. Hirschhorn.
Advances in Pathobiology, New York, 1976, (3): 87-94. - Galactosemia. Repository identification Nos. GM-438 to GM-442.
S. Kaffe, N. G. Beratis, K. Hirschhorn, A. E. Greene, L. L. Coriell.
Cytogenetics and Cell Genetics, Basel, 1976, 17 (1): 62-64. - The study of human immunoglobulins in hybrid cells: tentative assignment of the genes responsible for human heavy chain immunoglobulin production to chromosome 2.
M. Smith, K. Hirschhorn, J. Shuster, P. Gold.
Cytogenetics and Cell Genetics, Basel, 1976, 16 (1-5): 235-237. - Maroteaux-Lamy syndrome: repository identification nos. GM-519,520,935,943, and 1022.
G. Beratis, K. Hirschhorn, S. Friedman, A. E. Greene, L. L. Coriell.
Cytogenetics and Cell Genetics, Basel, 1976, 17 (4): 236-238. - alpha-L-Fucosidase in normal and deficient individuals.
K. Hirschhorn, N. G. Beratis, B. M. Turner.
Advances in Experimental Medicine and Biology, New York, 1976, 68: 205-223. - Assignment of the human alpha-L-fucosidase gene locus to chromosome 1 by use of a "clone panel".
V. S. Turner, B. M. Turner, R. Kucherlapati, F. H. Ruddle, K. Hirschhorn.
Cytogenetics and Cell Genetics, Basel, 1976, 16 (1-5): 238-240. - On the nature of the defect in cystic fibrosis.
J. H. Conover, E. J. Conod, K. Hirschhorn.
Texas Reports on Biology and Medicine, Galveston, 1976, 34 (1): 45-50. - Assignment of the human alpha-l-fucosidase gene locus to chromosome 1 by use of a "clone panel".
V. S. Turner, B. M. Turner, R. Kucherlapati, F. H. Ruddle, K. Hirschhorn.
Birth Defects. Original Article Series, 1976, 12 (7): 238-240. - Cytogenetic studies in polycythemia vera.
D. Wurster-Hill, J. Whang-Peng, O. R. McIntyre, L. Y. Hsu, K. Hirschhorn, B. Modan, A. V. Pisciotta, R. Pierre, S. P. Balcerzak, S. Murphy, A. Weinfeld.
Seminars in Hematology, January 1976, 13 (1): 13-32. - Letter: Amniocentesis for prenatal diagnosis.
L. Y. Hsu, F. Yahr, L. Godmilow, K. Hirschhorn.
The Lancet, January 24, 1976, 1 (7952): 206. - Fucosidosis type 2.
B. G. Kousseff, N. G. Beratis, L. Strauss, P. W. Brill, R. E. Rosenfield, B. Kaplan, K. Hirschhorn.
Pediatrics, February 1976, 57 (2): 205-213. - Polygenic inheritance of otosclerosis.
J. C. Mendlowitz, K. Hirschhorn.
The Annals of Otology, Rhinology and Laryngology, St. Louis, March-April 1976, 85 (2 pt.1): 281-285. - Letter: Routine alpha-fetoprotein studies in amniotic fluid.
E, Ainbender, K. Hirschhorn.
The Lancet, March 13, 1976, 1 (7959): 597-598. - Three successive prenatal diagnoses of 47,XY,+21.
L. Y. Hsu, L. Godmilow, A. V. Serotkiq, K. Hirschhorn.
Clinical Genetics, Copenhagen, April 1976, 9 (4): 412-416. - Letter: Identification of macrophages in amniotic-fluid cell cultures.
L. Y. Hsu, K. David, A. V. Serotkin, L. Godmilov, K. Hirschhorn.
The Lancet, June 19, 1976, 1 (7973): 1349. - Letter: Immunotherapy for colorectal cancer.
L. Y. Hsu, K. David, A. V. Serotkin, L. Godmilov, K. Hirschhorn.
The Lancet, June 19, 1976, 1 (7973): 1349-1350. - The frequency of chromosome aberrations in tall men with special reference to 47, XYY and 47, XXY.
J. Philip, C. Lundsteen, D. Owen, K. Hirschhorn.
The American Journal of Human Genetics, July 1976, 28 (4): 404-411. - Alkaline phosphatase activity in cultured skin fibroblasts from fibrodysplasia ossificans progressiva.
G. Beratis, S. Kaffe, A. M. Aron, K. Hirschhorn.
Journal of Medical Genetics, London, August 1976, 13 (4): 307-309. - Criminality in XYY and XXY men.
H. A. Witkin, S. A. Mednick, F. Schulsinger, E. Bakkestrom, K. O. Christiansen, D. R. Goodenough, K. Hirschhorn, C. Lundsteen, D. OwenR, J. Philip, D. B. Rubin, M. Stocking.
Science, Washington DC, August 13, 1976, 193 (4253): 547-555. - Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant.
L. Y. Hsu, H. J. Kim, R. Hausknecht, K. Hirschhorn.
Clinical Genetics, Copenhagen, October 1976, 10 (4) :232-238. 1977 - Immunoglobulin production by human-mouse somatic cell hybrids.
M. Smith, K. Hirschhorn.
Transactions of the Association of American Physicians, Philadelphia, 1977, 90: 281-285. - Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera.
L. Y. Hsu, D. Pinchiaroli, H. S. Gilbert, R. Wittman, K. Hirschhorn.
American Journal of Hematology, New York, 1977, 2 (4): 375-383. - Prenatal diagnosis of renal anomalies.
S. Kaffe, J. S. Rose, L. Godmilow, B. A. Walker, T. Kerenyi, N. Beratis, P. Reyes, K. Hirschhorn.
American Journal of Medical Genetics, New York, 1977, 1 (2): 241-251. - Cell-specific differences in membrane beta-glucosidase from normal and Gaucher cells.
B. M. Turner, N. G. Beratis, K. Hirschhorn.
Biochimica et Biophysica Acta, Amsterdam, February 9, 1977, 480 (2): 442-449. - A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).
B. G. Kousseff, L. Y. Hsu, S. Paciuc, K. Hirschhorn.
Journal of Medical Genetics, London, April 1977, 14 (2): 144-147. - Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
H. J. Kim, L. Y. Hsu, L. C. Goldsmith, L. Strauss, K. Hirschhorn.
Journal of Medical Genetics, London, April 1977, 14 (2): 114-119. - Prenatal diagnosis of bilateral renal agenesis.
S. Kaffe, L. Godmilow, B. A. Walker, K. Hirschhorn.
Obstetrics and Gynecology, Philadelphia, April 1977, 49 (4): 478-480. - alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients.
N. G. Beratis, B. M. Turner, G. Labadie, K. Hirschhorn.
Pediatric Research, July 1977, 11 (7): 862-866. - [Occurrence of chromosome abnormalities in 4,591 tall Danish men]
J. Philip, C. Lundsteen, D. Owen, K. Hirschhorn.
Ugeskrift for Læger, Copenhagen, July 18, 1977, 139 (29): 1723-1726. Danish. - XYY men: are they criminally aggressive?
H. A. Witkin, D. R. Goodenough, K. Hirschhorn.
The Sciences, New York, October 1977, 17 (6): 10-13. - Partial deletion of long arm of chromosome 11: del (11) (q23).
S. Kaffe, L. Y. Hsu, R. K. Sachdev, Philips J, K. Hirschhorn.
Clinical Genetics, Copenhagen, December 1977, 12 (6): 323-328. - Supernumerary small ring chromosome.
S. Kaffe, H. J. Kim, L. Y. Hsu, C. B. Brill, K. Hirschhorn.
Journal of Medical Genetics, London, December 1977, 14 (6): 447-451. 1978 - Clinical applications of alpha-fetoprotein determinations.
E. Ainbender, E. Brown, C. Kierney, K. Hirschhorn.
UCLA Forum in Medical Sciences, 1978, 20: 169-178. - Alpha-L-fucosidase in cultured bone marrow fibroblasts from fucosidosis patients.
N. G. Beratis, K. Hirschhorn.
American Journal of Medical Genetics, 1978, 2 (1): 23-29. - Prenatal cytogenetic diagnosis: first 1,000 successful cases.
L. Y. Hsu, S. Kaffe, F. Yahr, A. Serotkin, F. Giordano, L. Godmilow, H. J. Kim, K. David, T. Kerenyi, K. Hirschhorn.
American Journal of Medical Genetics, 1978, 2 (4): 365-383. - 550 cases of prenatal cytogenetic diagnosis: experience and prospects.
L. Y. Hsu, F. Yahr, H. J. Kim, T. Kerenyi, K. Hirschhorn.
The Mount Sinai Journal of Medicine, New York, January-February 1978, 45 (1): 135-149. - Studies on the synthesis of immunoglobulins by man-mouse somatic cell hybrids.
M. Smith, K. Hirschhorn.
Cytogenetics and Cell Genetics, Basel, 1978, 22 (1-6): 275-280. - Assignment of the gene locus for human alpha-L-fucosidase to chromosome 1 by analysis of somatic cell hybrids.
B. M. Turner, M. Smith, V. S. Turner, R. KucherlapatiS, F. H. Ruddle, K. Hirschhorn.
Somatic Cell Genetics, New York, January 1978, 4 (1): 45-54. - Association of 5q- and refractory anemia.
S. Kaffe, L. Y. Hsu, R. Hoffman, K. Hirschhorn.
American Journal of Hematology, New York, 1978, 4 (3): 269-272. - Regional localization of HLA, MES, and SODM on chromosome 6.
M. Smith, B. M. Turner, N. Tanigaki, K. Hirschhorn.
Cytogenetics and Cell Genetics, Basel, 1978, 22 (1-6): 428-433. - Prenatal diagnosis of 5p-.
K. David, S. Kaffe, L. Strauss, L. Y. Hsu, A. Serotkin, K. Hirschhorn.
Clinical Genetics, Copenhagen, February 1978, 13 (2): 224-228. - Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome.
B. Brill, J. S. Rose, L. Godmilow, S. Sklower, J. Willner, K. Hirschhorn.
The Journal of Pediatrics, St. Louis, March 1978, 92 (3): 441-443. - Sister-chromatid exchange induced by X-ray of human lymphocytes and the effect of L-cysteine.
I. Abramovsky, G. Vorsanger, K. Hirschhorn.
Mutation Research, Amsterdam, April 1978, 50 (1): 93-100. - Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism.
L. Y. Hsu, S. Paciuc, K. David, S. Cristian, R. Moloshok, K. Hirschhorn.
Journal of Medical Genetics, London, June 1978, 15 (3): 222-226. - 64Cu metabolism in Menkes and normal cultured skin fibroblasts.
N. G. Beratis, P. Price, G. Labadie, K. Hirschhorn.
Pediatric Research, June 1978, 12 (6): 699-702. - Location of the genes for human heavy chain immunoglobulin to chromosome 6.
M. Smith, K. Hirschhorn.
Proceedings of the National Academy of Sciences of the United States of America, Washington DC, July, 1978, 75 (7): 3367-3371. - Properties of beta-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease.
B. M. Turner, K. Hirschhorn.
The American Journal of Human Genetics, July 1978, 30 (4): 346-358. - Observations on cell lines derived from a patient with Hodgkin's disease.
C. Friend, W. Marovitz, G. Henie, W. Henie, D. Tsuei, K. Hirschhorn, J. G. Holland, J. Cuttner.
Cancer Research, August 1978, 38 (8): 2581-2591. Review. - Trisomy 8 mosaicism syndrome. Report of monozygotic twins.
G. Reyes, L. Y. Hsu, L. Strauss, J. Rose, K. Hirschhorn.
Clinical Genetics, Copenhagen, August 1978, 14 (2): 90-97. - Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
N. G. Beratis, G. U. Labadie, K. Hirschhorn.
The Journal of Clinical Investigation, December 1978, 62 (6): 1264-1274. 1979 - A (4;10) translocation, balanced, 46 chromosomes. Repository identification No. GM-1091.
L. Y. Hsu, K. Hirschhorn, M. M. Aronson, A. E. Greene, L. L. Coriell.
Cytogenetics and Cell Genetics, Basel, 1979, 23 (4): 282. - Metabolic correction of fucosidosis fibroblasts by human alpha-L-fucosidase.
B. M. Turner, V. S. Turner, K. Hirschhorn.
Journal of Cellular Physiology, New York, January 1979, 98 (1): 225-235. - Copper metabolism in Menkes disease.
N. G. Beratis, P. Price, G. U. Labadie, K. Hirschhorn.
Pediatric Research, March 1979, 13 (3): 206. - Human inosine triphosphatase: catalytic properties and population studies.
S. L. Holmes, B. M. Turner, K. Hirschhorn.
Clinica chimica acta, Amsterdam, October 1, 1979, 97 (2-3): 143-153. - Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy.
R. de Chieri, K. Hirschhorn.
Human Genetics, November 1, 1979, 52 (1): 149-152. 1980 - An assessment of physician knowledge of Tay Sachs disease.
D. Rosenstein, L. Godmilow, K. Hirschhorn.
The Mount Sinai Journal of Medicine, January-February 1980, 47 (1): 1-4. - Analysis of a follow-up study of genetic counseling.
I. Abramovsky, L. Godmilow, K. Hirschhorn, H. Smith Jr.
Clinical Genetics, Copenhagen, January 1980, 17 (1): 1-12. - Effect of copper on Menkes' and normal cultured skin fibroblasts.
N. G. Beratis, M. Yee, G. U. Labadie, K. Hirschhorn.
Developmental Pharmacology and Therapeutics, Basel, 1980, 1 (5): 305-317. - An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.
N. G. Beratis, G. U. Labadie, K. Hirschhorn.
The American Journal of Human Genetics, March 1980, 32 (2): 137-149. 1981 - Recent advances in the prenatal diagnosis of congenital diseases.
K. Hirschhorn.
Monographs in Pathology, Baltimore, 1981, (22): 49-51. - Genetic control of the immune system.
K. Hirschhorn.
Progress in Clinical and Biological Research, New York, 1981, 70: 17-20. - Studies of the copper-binding proteins in Menkes and normal cultured skin fibroblast lysates.
U. Labadie, N. G. Beratis, P. M. Price, K. Hirschhorn.
Journal of Cellular Physiology, New York, February 1981, 106 (2): 173-178. - Increased copper metallothionein in Menkes cultured skin fibroblasts.
U. Labadie, K. Hirschhorn, Katz S, N. G. Beratis.
Pediatric Research, March 1981, 15 (3): 257-261. - New syndromes and modern genetics.
K. Hirschhorn.
The New England Journal of Medicine, Boston, September 10, 1981, 305 (11): 638-639. - Confirmation of the assignment of genes of human immunoglobulin heavy chains to chromosome 14 by analysis of Ig synthesis by man-mouse hybridomas.
M. Smith, A. Krinsky, F. Arredondo-Vega, A. L. Wang, K. Hirschhorn.
European Journal of Immunology, Baltimore, October 1981, 11 (10): 852-855. 1982 - Overview and historical perspective of prenatal diagnosis.
K. Hirschhorn.
Methods in Cell Biology, New York, 1982, 26: 1-9. - Distamycin A-DAPI banding of nonfluorescent Y(Ynf) chromosomes in 45,X/46,XYnf mosaicism.
L. P. Wisniewski, K. Hirschhorn.
Human Genetics, 1982, 60 (2): 130-132. - [Unusual radiologic aspects of immune deficiencies]
J. S. Rose, K. Hirschhorn, W. E. Berdon.
Annales de radiologie, Paris, September-October, 1982, 25 (6): 415-419. French. - Presentation of the Howland Award to Horace Louis Hodes, M.D.
K. Hirschhorn.
Pediatric Research, November 1982, 16 (11): 917-919. 1983 - Improvement of muscle function in acid maltase deficiency by high-protein therapy. E. Slonim, R. A. Coleman, M. A. McElligot, J. Najjar, K. Hirschhorn, G. U. Labadie, R. Mrak, O. B. Evans, Shipp E, R. Presson.
Neurology, January 1983, 33 (1): 34-38. - Genetic heterogeneity in acid alpha-glucosidase deficiency.
N. G. Beratis, G. U. Labadie, K. Hirschhorn.
The American Journal of Human Genetics, January 1983, 35 (1): 21-33. - Acid alpha-glucosidase: kinetic and immunologic properties of enzyme variants in health and disease.
N. G. Beratis, G. U. Labadie, K. Hirschhorn.
Isozymes: Current Topics In Biological Medical Research, 1983, 11: 25-36. - U cells contain contaminants.
W. C. Wright, S. Kaffe, C. F. Holinka, K. Cantell, J. G. Kapsenberg, K. Hirschhorn.
Nature, London, January 1983, 301 (5898): 279. - The William Allan Memorial Award. Presented to Elizabeth F. Neufeld, Ph. D., at the annual meeting of the American Society of Human Genetics Detroit, September 29-October 2, 1982.
K. Hirschhorn.
The American Journal of Human Genetics, November 1983, 35 (6): 1077-1080. - Acquired partial deletions of the long arm of chromosome 5 in hematologic disorders.
L. P. Wisniewski, K. Hirschhorn.
American Journal of Hematology, New York, November 1983, 15 (3): 295-310. 1984 - Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization.
J. Honig, F. Martiniuk, P. D'Eustachio, C. Zamfirescu, R. Desnick, K. Hirschhorn, Hirschhorn LR, R. Hirschhorn.
Annals of Human Genetics, Cambridge UK, January 1984, 48 (Pt 1): 49-56. - Genetics, amniocentesis, and abortion.
K. Hirschhorn.
The Mount Sinai Journal of Medicine, January-February, 1984, 51 (1): 15-17. - Dominance and homozygosity in man.
K. Hirschhorn.
American Journal of Medical Genetics, New York, July 1984, 18 (3): 541. 1985 - Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization.
F. Martiniuk, A. Ellenbogen, K. Hirschhorn, R. Hirschhorn.
Human Genetics, 1985, 69 (2): 109-111. - Prenatal diagnosis.
A. Cramer, K. Hirschhorn.
Birth Defects. Original Article Series, 1985, 21 (5): 9-35. Review. 1986 - A de novo translocation in a family with a balanced reciprocal chromosomal translocation.
M. P. Short, F. Gilbert, K. Hirschhorn.
Clinical Genetics, Copenhagen, February 1986, 29 (2): 143-146. 1988 - Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity.
Tripathy, R. A. Coleman, H. J. Vidaillet Jr, C. Steenbergen, K. Hirschhorn, D. L. Packer.
Annals of Internal Medicine, Philadelphia, December 1988, 109 (12): 985-987. 1989 - Patient care, resident stress, and government regulation.
M. I. Cohen, J. Dancis, L. Finberg, K. Hirschhorn, M. Katz, E. Wasserman.
American Journal of Diseases of Children, February 1989, 143 (2): 181-182. - Inheritance of low-density lipoprotein subclass patterns: results of complex segregation analysis.
K. Hirschhorn.
The American Journal of Human Genetics, May 1989, 44 (5): 768. - Duplication of 16q and deletion of 15q.
W. L. Nyhan, J. Mascarello, B. Barshop, D. Doroski, K. Hirschhorn.
American Journal of Medical Genetics, New York, October 1989, 34 (2): 183-186. 1990 - Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
R. Petrella, M. D. Ludman, J. G. Rabinowitz, F. Gilbert, K. Hirschhorn.
American Journal of Medical Genetics, Newe York, September 1990, 37 (1): 10-14. Review. - Trisomy 12 mosaicism detected by mid-trimester amniocentesis.
R. Petrella, K. Hirschhorn.
Prenatal Diagnosis, Chichester, Sussex, December 1990, 10 (12): 781-5. Review. 1991 - Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome.
R. Petrella, K. Hirschhorn, J. German.
American Journal of Medical Genetics, September 1, 1991, 40 (3): 316-318. - Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
F. Martiniuk, M. Mehler, M. Bodkin, S. Tzall, K. Hirschhorn, N. Zhong, R. Hirschhorn.
DNA and Cell Biology, Larchmont NY, November 1991, 10 (9): 681-687. 1992 - A guide to human chromosome defects.
A. Babu, K. Hirschhorn.
Birth Defects. Original Article Series, 1992, 28 (2): 1-18. Review. - Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies.
L. Y. Hsu, S. Kaffe, E. C. Jenkins, L. Alonso, P.A. Benn, K. David, K. Hirschhorn, E. Lieber, A. Shanske, L. R. Shapiro, E. Schutta, D. Warburton.
Prenatal Diagnosis, Chichester, Sussex, July 1992, 12 (7): 555-573. - Prenatal diagnosis of Roberts syndrome.
K. Hirschhorn, S. Kaffe.
Prenatal Diagnosis, Chichester, Sussex, November 1992, 12 (11): 976. 1993 - Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism.
R. Petrella, J. G. Rabinowitz, B. Steinmann, K. Hirschhorn.
American Journal of Medical Genetics, August 15, 1993, 47 (2): 187-197. 1995 - Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".
L. L. Estabrooks, W. R. Breg, M. R. Hayden, D. H. Ledbetter, R. M. Myers, H. E. Wyandt, T. L. Yang-Feng, K. Hirschhorn.
American Journal of Medical Genetics, February 13, 1995, 55 (4): 453-458. Review. 1996 - 1995 William Allan Award address. Human genetics: a discipline at risk for fragmentation.
K. Hirschhorn.
The American Journal of Human Genetics, January 1996, 58 (1): 1-6. - Horace L. Hodes (1907-1989).
K. Hirschhorn.
The Journal of Pediatrics, St. Louis, March 1996, 128 (3): 436-437. - Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.
K. Hirschhorn.
American Journal of Medical Genetics, March 1, 1996, 62 (1): 98-99. - Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization.
W. L. Kuo, R. Hirschhorn, M. L. Huie, K. Hirschhorn.
Human Genetics, March 1996, 97 (3): 404-406. 1997 - Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization.
B. Levy, I. F. Gershin, R. J. Desnick, A. Babu, B. D. Gelb, K. Hirschhorn, P. D. Cotter.
Cytogenetics and Cell Genetics, Basel, 1997, 76 (1-2): 68-71. - A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.
J. Wright, D. O. Ricke, K. Denison, S. Abmayr, P. D. Cott