Diaz GA - Search Results

1

Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

Hershkovitz E, Parvari R, Diaz GA, Gorodischer R. Hershkovitz E, et al. Among authors: diaz ga. J Pediatr Endocrinol Metab. 2004 Dec;17(12):1583-90. doi: 10.1515/jpem.2004.17.12.1583. J Pediatr Endocrinol Metab. 2004. PMID: 15645691 Review.

2

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Parvari R, et al. Among authors: diaz ga. Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21. Nat Genet. 2002. PMID: 12389028

3

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R. Courtens W, et al. Am J Med Genet A. 2006 Mar 15;140(6):611-7. doi: 10.1002/ajmg.a.31122. Am J Med Genet A. 2006. PMID: 16470743 Review.

4

Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD.

Tian G, Huang MC, Parvari R, Diaz GA, Cowan NJ. Tian G, et al. Among authors: diaz ga. Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13491-6. doi: 10.1073/pnas.0602798103. Epub 2006 Aug 28. Proc Natl Acad Sci U S A. 2006. PMID: 16938882 Free PMC article.

5

Parathyroid development and the role of tubulin chaperone E.

Parvari R, Diaz GA, Hershkovitz E. Parvari R, et al. Among authors: diaz ga. Horm Res. 2007;67(1):12-21. doi: 10.1159/000095944. Epub 2006 Sep 27. Horm Res. 2007. PMID: 17008776 Free article. Review.

6

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.

Satoda M, Pierpont ME, Diaz GA, Bornemeier RA, Gelb BD. Satoda M, et al. Among authors: diaz ga. Circulation. 1999 Jun 15;99(23):3036-42. doi: 10.1161/01.cir.99.23.3036. Circulation. 1999. PMID: 10368122

7

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M. Diaz GA, et al. Am J Med Genet. 1999 Jul 2;85(1):48-52. doi: 10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1999. PMID: 10377012

8

The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

Diaz GA, Khan KT, Gelb BD. Diaz GA, et al. Genomics. 1998 Nov 15;54(1):13-8. doi: 10.1006/geno.1998.5530. Genomics. 1998. PMID: 9806825

9

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Diaz GA, et al. Nat Genet. 1999 Jul;22(3):309-12. doi: 10.1038/10385. Nat Genet. 1999. PMID: 10391223

10

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD. Satoda M, et al. Among authors: diaz ga. Nat Genet. 2000 May;25(1):42-6. doi: 10.1038/75578. Nat Genet. 2000. PMID: 10802654

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