Chitayat D - Search Results

1

Potential mapping of corneal dermoids to Xq24-qter.

Dar P, Javed AA, Ben-Yishay M, Ferreira JC, Paterson AD, Gross SJ, Chitayat D, Morrow BE, Nitowsky HM. Dar P, et al. Among authors: chitayat d. J Med Genet. 2001 Oct;38(10):719-23. doi: 10.1136/jmg.38.10.719. J Med Genet. 2001. PMID: 11594343 Free PMC article. No abstract available.

2

Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review.

Hahm SY, Chitayat D, Iqbal MA, Cho S, Nitowsky HM. Hahm SY, et al. Among authors: chitayat d. Clin Genet. 1987 May;31(5):343-8. doi: 10.1111/j.1399-0004.1987.tb02819.x. Clin Genet. 1987. PMID: 3301092 Review.

3

Ring chromosome 6: report of a patient and literature review.

Chitayat D, Hahm SY, Iqbal MA, Nitowsky HM. Chitayat D, et al. Am J Med Genet. 1987 Jan;26(1):145-51. doi: 10.1002/ajmg.1320260122. Am J Med Genet. 1987. PMID: 3544845 Review.

4

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. Billingsley G, et al. Among authors: chitayat d. J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472660

5

Male sex bias in placental dysfunction.

Murji A, Proctor LK, Paterson AD, Chitayat D, Weksberg R, Kingdom J. Murji A, et al. Among authors: chitayat d. Am J Med Genet A. 2012 Apr;158A(4):779-83. doi: 10.1002/ajmg.a.35250. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407866

6

Elevation of serum beta-hexosaminidase and alpha-D-mannosidase in type 2 Gaucher disease: a clinical and biochemical study.

Chitayat D, Nakagawa S, Marion RW, Sachs GS, Shinnar S, Llena JF, Nitowsky HM. Chitayat D, et al. J Inherit Metab Dis. 1987;10(2):111-4. doi: 10.1007/BF01800033. J Inherit Metab Dis. 1987. PMID: 2958659

7

Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

Chitayat D, Hahm SY, Marion RW, Sachs GS, Goldman D, Hutcheon RG, Weiss R, Cho S, Nitowsky HM. Chitayat D, et al. Am J Dis Child. 1987 Oct;141(10):1133-6. doi: 10.1001/archpedi.1987.04460100111042. Am J Dis Child. 1987. PMID: 3631003

8

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, Becker LE. Chitayat D, et al. Am J Med Genet. 1996 Jan 2;61(1):45-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W. Am J Med Genet. 1996. PMID: 8741917 Review.

9

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.

Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R. Horike S, et al. Among authors: chitayat d. Am J Med Genet A. 2009 Nov;149A(11):2415-23. doi: 10.1002/ajmg.a.33065. Am J Med Genet A. 2009. PMID: 19876907

10

Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.

Halal F, Vekemans M, Chitayat D. Halal F, et al. Among authors: chitayat d. Am J Med Genet. 1991 Jun 15;39(4):418-21. doi: 10.1002/ajmg.1320390412. Am J Med Genet. 1991. PMID: 1877620

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