Zackai E - Search Results

1

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: zackai e. Genet Med. 2021 Oct;23(10):1952-1960. doi: 10.1038/s41436-021-01212-y. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113005 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

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. Feldman GJ, et al. Among authors: zackai eh. Am J Hum Genet. 1995 Apr;56(4):938-43. Am J Hum Genet. 1995. PMID: 7717404 Free PMC article.

4

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M. Bellus GA, et al. Among authors: zackai eh. Nat Genet. 1996 Oct;14(2):174-6. doi: 10.1038/ng1096-174. Nat Genet. 1996. PMID: 8841188

5

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M. Gripp KW, et al. Among authors: zackai eh. J Pediatr. 1998 Apr;132(4):714-6. doi: 10.1016/s0022-3476(98)70366-x. J Pediatr. 1998. PMID: 9580776

6

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH. Gripp KW, et al. Among authors: zackai eh. Am J Med Genet. 1998 Jul 24;78(4):356-60. doi: 10.1002/(sici)1096-8628(19980724)78:4<356::aid-ajmg10>3.0.co;2-h. Am J Med Genet. 1998. PMID: 9714439

7

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.

Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ. Gripp KW, et al. Among authors: zackai eh. Nat Genet. 2000 Jun;25(2):205-8. doi: 10.1038/76074. Nat Genet. 2000. PMID: 10835638

8

Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.

Cassileth LB, Bartlett SP, Glat PM, Gripp KW, Muenke M, Zackai EH, Whitaker LA. Cassileth LB, et al. Among authors: zackai eh. Plast Reconstr Surg. 2001 Dec;108(7):1849-54. doi: 10.1097/00006534-200112000-00001. Plast Reconstr Surg. 2001. PMID: 11743367

9

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.

Kamnasaran D, O'Brien PC, Zackai EH, Muenke M, Ferguson-Smith MA, Cox DW. Kamnasaran D, et al. Eur J Hum Genet. 2003 Apr;11(4):315-24. doi: 10.1038/sj.ejhg.5200963. Eur J Hum Genet. 2003. PMID: 12700605

10

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.

Russell HF, Wallis D, Mazzocco MM, Moshang T, Zackai E, Zinn AR, Ross JL, Muenke M. Russell HF, et al. Among authors: zackai e. J Pediatr Psychol. 2006 Oct;31(9):945-55. doi: 10.1093/jpepsy/jsj106. Epub 2006 Mar 8. J Pediatr Psychol. 2006. PMID: 16524959

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