Chitayat D - Search Results

1

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G. Suzuki Y, et al. Among authors: chitayat d. Am J Hum Genet. 2018 Jun 7;102(6):1104-1114. doi: 10.1016/j.ajhg.2018.04.006. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861107 Free PMC article.

2

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues.

Tizzano EF, Chitayat D, Buchwald M. Tizzano EF, et al. Among authors: chitayat d. Hum Mol Genet. 1993 Mar;2(3):219-24. doi: 10.1093/hmg/2.3.219. Hum Mol Genet. 1993. PMID: 7684640

3

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN. Chun K, et al. Among authors: chitayat d. Am J Med Genet. 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9605588

4

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Among authors: chitayat d. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.

5

Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.

Yang Z, Lau R, Marcadier JL, Chitayat D, Pearson CE. Yang Z, et al. Among authors: chitayat d. Am J Hum Genet. 2003 Nov;73(5):1092-105. doi: 10.1086/379523. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574643 Free PMC article.

6

Fetal cardiac defects and increased nuchal translucency thickness: a prospective study.

McAuliffe FM, Hornberger LK, Winsor S, Chitayat D, Chong K, Johnson JA. McAuliffe FM, et al. Among authors: chitayat d. Am J Obstet Gynecol. 2004 Oct;191(4):1486-90. doi: 10.1016/j.ajog.2004.05.049. Am J Obstet Gynecol. 2004. PMID: 15507988

7

Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

Sermer D, Quercia N, Chong K, Chitayat D. Sermer D, et al. Among authors: chitayat d. Am J Med Genet A. 2007 Dec 15;143A(24):3286-9. doi: 10.1002/ajmg.a.32021. Am J Med Genet A. 2007. PMID: 18000904

8

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. Chitayat D, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3280-5. doi: 10.1002/ajmg.a.32022. Am J Med Genet A. 2007. PMID: 18000911

9

Ataxia and pancytopenia caused by a mutation in TINF2.

Tsangaris E, Adams SL, Yoon G, Chitayat D, Lansdorp P, Dokal I, Dror Y. Tsangaris E, et al. Among authors: chitayat d. Hum Genet. 2008 Dec;124(5):507-13. doi: 10.1007/s00439-008-0576-7. Epub 2008 Nov 1. Hum Genet. 2008. PMID: 18979121

10

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.

Chong K, Keating S, Hurst S, Summers A, Berger H, Seaward G, Martin N, Friedberg T, Chitayat D. Chong K, et al. Among authors: chitayat d. Prenat Diagn. 2009 May;29(5):489-94. doi: 10.1002/pd.2228. Prenat Diagn. 2009. PMID: 19242925

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