Chitayat D - Search Results

1

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. Costain G, et al. Among authors: chitayat d. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293988 Free article.

2

Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.

Chitayat D, Silver K, Azouz EM. Chitayat D, et al. Am J Med Genet. 1992 Jun 1;43(3):517-23. doi: 10.1002/ajmg.1320430304. Am J Med Genet. 1992. PMID: 1605243

3

Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.

Chitayat D, Toi A, Babul R, Levin A, Michaud J, Summers A, Rutka J, Blaser S, Becker LE. Chitayat D, et al. Am J Med Genet. 1995 May 8;56(4):351-8. doi: 10.1002/ajmg.1320560403. Am J Med Genet. 1995. PMID: 7604843

4

Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.

Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H. Chitayat D, et al. Am J Med Genet. 1995 Jan 16;55(2):147-54. doi: 10.1002/ajmg.1320550203. Am J Med Genet. 1995. PMID: 7717413 Review.

5

Omphalocele in Miller-Dieker syndrome: expanding the phenotype.

Chitayat D, Toi A, Babul R, Blaser S, Moola S, Yarkoni D, Sermer M, Johnson JA, Vasjar J, Teshima I. Chitayat D, et al. Am J Med Genet. 1997 Mar 31;69(3):293-8. doi: 10.1002/(sici)1096-8628(19970331)69:3<293::aid-ajmg15>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9096760

6

Familial growth hormone deficiency associated with MRI abnormalities.

Hamilton J, Chitayat D, Blaser S, Cohen LE, Phillips JA 3rd, Daneman D. Hamilton J, et al. Among authors: chitayat d. Am J Med Genet. 1998 Nov 2;80(2):128-32. Am J Med Genet. 1998. PMID: 9805128

7

Congenital toxoplasmosis: prenatal diagnosis, treatment and postnatal outcome.

Friedman S, Ford-Jones LE, Toi A, Ryan G, Blaser S, Chitayat D. Friedman S, et al. Among authors: chitayat d. Prenat Diagn. 1999 Apr;19(4):330-3. doi: 10.1002/(sici)1097-0223(199904)19:4<330::aid-pd549>3.0.co;2-v. Prenat Diagn. 1999. PMID: 10327137

8

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. Osborne LR, et al. Among authors: chitayat d. Nat Genet. 2001 Nov;29(3):321-5. doi: 10.1038/ng753. Nat Genet. 2001. PMID: 11685205 Free PMC article.

9

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Nakabayashi K, et al. Among authors: chitayat d. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489

10

Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging.

Fong KW, Ghai S, Toi A, Blaser S, Winsor EJ, Chitayat D. Fong KW, et al. Among authors: chitayat d. Ultrasound Obstet Gynecol. 2004 Dec;24(7):716-23. doi: 10.1002/uog.1777. Ultrasound Obstet Gynecol. 2004. PMID: 15586369 Free article.

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