Zackai EH - Search Results

1

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. Xia F, et al. Among authors: zackai eh. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Am J Hum Genet. 2014. PMID: 24791903 Free PMC article.

2

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB. Pellegrino JE, et al. Among authors: zackai eh. Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977

3

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al. Schell U, et al. Among authors: zackai eh. Hum Mol Genet. 1995 Mar;4(3):323-8. doi: 10.1093/hmg/4.3.323. Hum Mol Genet. 1995. PMID: 7795583

4

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

Cheng SD, Spinner NB, Zackai EH, Knoll JH. Cheng SD, et al. Among authors: zackai eh. Am J Hum Genet. 1994 Oct;55(4):753-9. Am J Hum Genet. 1994. PMID: 7942854 Free PMC article.

5

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J. Boghosian-Sell L, et al. Among authors: zackai eh. Am J Hum Genet. 1994 Sep;55(3):476-83. Am J Hum Genet. 1994. PMID: 8079991 Free PMC article.

6

Human malformations similar to those in the mouse mutation disorganization (Ds).

Robin NH, Adewale OO, McDonald-McGinn D, Nadeau JH, Zackai EH, Bućan M. Robin NH, et al. Among authors: zackai eh. Hum Genet. 1993 Nov;92(5):461-4. doi: 10.1007/BF00216451. Hum Genet. 1993. PMID: 8244336

7

Constitutional 1p36 deletion in a child with neuroblastoma.

Biegel JA, White PS, Marshall HN, Fujimori M, Zackai EH, Scher CD, Brodeur GM, Emanuel BS. Biegel JA, et al. Among authors: zackai eh. Am J Hum Genet. 1993 Jan;52(1):176-82. Am J Hum Genet. 1993. PMID: 8434586 Free PMC article.

8

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ. Ahmad NN, et al. Among authors: zackai eh. Am J Hum Genet. 1993 Jan;52(1):39-45. Am J Hum Genet. 1993. PMID: 8434604 Free PMC article. Review.

9

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J. Kline AD, et al. Among authors: zackai eh. Am J Hum Genet. 1993 May;52(5):895-906. Am J Hum Genet. 1993. PMID: 8488839 Free PMC article. Review.

10

Frontonasal malformation and cloacal exstrophy: a previously unreported association.

Robin NH, Neidich JA, Bason LD, Whitaker LA, McDonald-McGinn D, Hunter J, Snyder HM 3rd, Zackai EH. Robin NH, et al. Among authors: zackai eh. Am J Med Genet. 1996 Jan 2;61(1):75-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<75::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8741924

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