Chitayat D - Search Results

1

Mutations in EZH2 cause Weaver syndrome.

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Gibson WT, et al. Among authors: chitayat d. Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177091 Free PMC article.

2

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?

Chitayat D, McGillivray BC, Rothstein R, Flodmark O, Priddy RW, Ebelt VJ, Lirenman DS, Hall JG. Chitayat D, et al. Am J Med Genet. 1990 Mar;35(3):406-14. doi: 10.1002/ajmg.1320350318. Am J Med Genet. 1990. PMID: 2309790

3

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA, Keena B, Pantzar T, Friedman JM, Hall JG. Bamforth JS, et al. Among authors: chitayat d. Am J Med Genet. 1989 Jan;32(1):93-9. doi: 10.1002/ajmg.1320320120. Am J Med Genet. 1989. PMID: 2650550

4

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.

Chitayat D, Friedman JM, Anderson L, Dimmick JE. Chitayat D, et al. Am J Med Genet. 1988 Dec;31(4):909-14. doi: 10.1002/ajmg.1320310425. Am J Med Genet. 1988. PMID: 2853572

5

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.

Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J. Winter H, et al. Among authors: chitayat d. Hum Genet. 1997 Dec;101(2):165-9. doi: 10.1007/s004390050607. Hum Genet. 1997. PMID: 9402962

6

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN Jr, Bresnick GH, Giedion A, Lachman RS, Rimoin DL. Chitayat D, et al. Am J Med Genet. 1997 Dec 19;73(3):279-85. doi: 10.1002/(sici)1096-8628(19971219)73:3<279::aid-ajmg10>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9415685

7

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER. Zhang YH, et al. Among authors: chitayat d. Am J Hum Genet. 1998 Apr;62(4):855-64. doi: 10.1086/301782. Am J Hum Genet. 1998. PMID: 9529340 Free PMC article.

8

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

9

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML. Gong Y, et al. Among authors: chitayat d. Am J Hum Genet. 1999 Feb;64(2):570-7. doi: 10.1086/302249. Am J Hum Genet. 1999. PMID: 9973295 Free PMC article.

10

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. Gong Y, et al. Among authors: chitayat d. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821. Nat Genet. 1999. PMID: 10080184

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