Taha D - Search Results

1

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C. Senée V, et al. Among authors: taha d. Nat Genet. 2006 Jun;38(6):682-7. doi: 10.1038/ng1802. Epub 2006 May 21. Nat Genet. 2006. PMID: 16715098

2

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.

Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C. Senée V, et al. Among authors: taha d. Diabetes. 2004 Jul;53(7):1876-83. doi: 10.2337/diabetes.53.7.1876. Diabetes. 2004. PMID: 15220213

3

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?

Taha D, Barbar M, Kanaan H, Williamson Balfe J. Taha D, et al. Am J Med Genet A. 2003 Oct 15;122A(3):269-73. doi: 10.1002/ajmg.a.20267. Am J Med Genet A. 2003. PMID: 12966531

4

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JK, Hogue J, Slavotinek A, Shetty A, Balasubramanian M. Dimitri P, et al. Among authors: taha d. Am J Med Genet A. 2016 Jul;170(7):1918-23. doi: 10.1002/ajmg.a.37680. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27148679 Free article.

5

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

Dimitri P, Habeb AM, Gurbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, Wales JK, Shetty A, Hawkes D, Hattersley AT, Ellard S, De Franco E. Dimitri P, et al. Among authors: taha d. J Clin Endocrinol Metab. 2015 Oct;100(10):E1362-9. doi: 10.1210/jc.2015-1827. Epub 2015 Aug 10. J Clin Endocrinol Metab. 2015. PMID: 26259131 Free PMC article.

6

Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.

Taha D, Boerkoel CF, Balfe JW, Khalifah M, Sloan EA, Barbar M, Haider A, Kanaan H. Taha D, et al. Am J Med Genet A. 2004 Dec 1;131(2):194-9. doi: 10.1002/ajmg.a.30356. Am J Med Genet A. 2004. PMID: 15523612

7

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

Abu-Sa'da O, Barbar M, Al-Harbi N, Taha D. Abu-Sa'da O, et al. Among authors: taha d. Clin Dysmorphol. 2005 Oct;14(4):191-196. Clin Dysmorphol. 2005. PMID: 16155421 Review.

8

Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis.

El-Naggar W, Balfe JW, Barbar M, Taha D. El-Naggar W, et al. Among authors: taha d. Pediatr Nephrol. 2005 Sep;20(9):1336-9. doi: 10.1007/s00467-005-1885-x. Epub 2005 Jul 12. Pediatr Nephrol. 2005. PMID: 16010597

9

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

Taha D, Khider A, Cullinane AR, Gissen P. Taha D, et al. Am J Med Genet A. 2007 Dec 1;143A(23):2835-7. doi: 10.1002/ajmg.a.32051. Am J Med Genet A. 2007. PMID: 17994566 No abstract available.

10

Re: EIF2AK3 mutations in patients with Wolcott-Rallison syndrome.

Taha D. Taha D. Ann Saudi Med. 2005 Jul-Aug;25(4):350; author reply 350. doi: 10.5144/0256-4947.2005.350a. Ann Saudi Med. 2005. PMID: 16212134 Free PMC article. No abstract available.

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