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Sami A. Sanjad
Libanese-American physician.
Associated eponyms:
Sanjad-Sakati syndrome
Congenital hypoparathyroidism associated with severe prenatal and postnatal growth retardation and a pattern of facial anomalies.
Biography:
Sami A. Sanjad (M.D. 1965) is affiliated with the Department of Pediatrics, American University of Beirut Medical Center, Beirut, Libanon.
When Sakati and Sanjad described "their" syndrome, Sanjad was working as a consultant physician at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Bibliography:
David B. Simon, Fiona E. Karet, Juan Rodriguez-Soriano, Jahed H. Hamdan, Antonio DiPietro, Howard Trachtman, Sami A. Sanjad & Richard P. Lifton:
- Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK.
Nature Genetics, New York, 1996, 14: 152-156.
Fiona E. Karet, Karin E. Finberg, Raoul D. Nelson, Ahmet Nayir, Hilal Mocan, Sami A. Sanjad, Juan Rodriguez-Soriano, Fernando Santos, Cor W.R.J. Cremers, Antonio Di Pietro, Barry I. Hoffbrand, Jacek Winiarski, Aysin Bakkaloglu, Seza Ozen, Ruhan Dusunsel, Paul Goodyer, Sally A. Hulton, Doris K. Wu, Anne B. Skvorak, Cynthia C. Morton, Michael J. Cunningham, Vivekanand Jha, Richard P. Lifton:
- Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Nature Genetics, January 1, 1999, 21: 84-90.
B. Burwinkel, S.A. Sanjad, E. Al-Sabban, A. Al-Abbad, M.W. Kilimann:
- A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Human Genetics, Berlin / Heidelberg, September 1999, 105 (3): 240-243.
Fiona E. Karet, Karin E. Finberg,, Ahmet Nayir, Aysin Bakkaloglu, Seza Ozen, Sally A. Hulton, Sami A. Sanjad, Essam A. Al-Sabban, Juan F. Medina, and Richard P. Lifton:
- Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34.
The American Journal of Human Genetics, Chicago, December 1999; 65 (6): 1656–1665.
C. C. Mourani, S. A. Sanjad, C. Y. Akatcherian:
- Bartter syndrome in a neonate: early treatment with indomethacin.
Pediatric Nephrology, Berlin / Heidelberg, January 2000, 14 (2): 143-145.
Annabel N. Smith, Jennifer Skaug, Keith A. Choate, Ahmet Nayir, Aysin Bakkaloglu, Seza Ozen, Sally A. Hulton, Sami A. Sanjad, Essam A. Al-Sabban, Richard P. Lifton, Stephen W. Scherer & Fiona E. Karet:
- Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Nature Genetics, New York, 2000, 26: 71-75.
Sami A. Sanjad, Abbas Al-Abbad, Essam Al-Sabban:
- Primary Hyperoxaluria Type I: An underestimated Cause of Nephrocalcinosis and Chronic Renal Failure in Saudi Arabian Children.
Annals of Saudi Medicine, 1999, 19 (1): 4-7.
Thaddeus E Kelly, Susan Blanton, Ramla Saif, Sami A. Sanjad, and Nadia A. Sakati:
- Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.
Journal of Medical Genetics, London, 2000, 37: 63-64.
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