Zackai E - Search Results

1

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. Among authors: zackai e. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.

2

On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

Muenke M, Ruchelli ED, Rorke LB, McDonald-McGinn DM, Orlow MK, Isaacs A, Craparo FJ, Dunn LK, Zackai EH. Muenke M, et al. Among authors: zackai eh. Am J Med Genet. 1991 Dec 15;41(4):548-56. doi: 10.1002/ajmg.1320410436. Am J Med Genet. 1991. PMID: 1776653

3

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation.

Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH. Münke M, et al. Among authors: zackai eh. Am J Med Genet. 1990 Mar;35(3):360-9. doi: 10.1002/ajmg.1320350310. Am J Med Genet. 1990. PMID: 2309783

4

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS. Donnenfeld AE, et al. Among authors: zackai eh. Am J Med Genet. 1989 Apr;32(4):461-7. doi: 10.1002/ajmg.1320320405. Am J Med Genet. 1989. PMID: 2773986

5

Neuropsychiatry of 18q- syndrome.

Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM. Mahr RN, et al. Among authors: zackai eh. Am J Med Genet. 1996 Apr 9;67(2):172-8. doi: 10.1002/(SICI)1096-8628(19960409)67:2<172::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8723044

6

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Li M, et al. Among authors: zackai eh. Am J Med Genet. 1996 Oct 16;65(2):101-3. doi: 10.1002/(SICI)1096-8628(19961016)65:2<101::AID-AJMG3>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8911598

7

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. Gripp KW, et al. Among authors: zackai eh. Am J Med Genet. 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 9934984

8

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.

Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. Among authors: zackai e. J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. J Med Genet. 2001. PMID: 11694546 Free PMC article.

9

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE. Hoffman JD, et al. Among authors: zackai eh. J Med Genet. 2005 Jan;42(1):49-53. doi: 10.1136/jmg.2004.024372. J Med Genet. 2005. PMID: 15635075 Free PMC article.

10

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. Haldeman-Englert CR, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13. Eur J Med Genet. 2009. PMID: 19100872 Free PMC article.

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