Muenke M - Search Results

1

Correction to: 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: muenke m. Genet Med. 2021 Oct;23(10):2013. doi: 10.1038/s41436-021-01279-7. Genet Med. 2021. PMID: 34522030 Free PMC article. No abstract available.

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. 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: muenke m. 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: muenke m. Nat Genet. 1996 Oct;14(2):174-6. doi: 10.1038/ng1096-174. Nat Genet. 1996. PMID: 8841188

5

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: muenke m. 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

6

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. Among authors: muenke m. Eur J Hum Genet. 2003 Apr;11(4):315-24. doi: 10.1038/sj.ejhg.5200963. Eur J Hum Genet. 2003. PMID: 12700605

7

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: muenke m. J Pediatr Psychol. 2006 Oct;31(9):945-55. doi: 10.1093/jpepsy/jsj106. Epub 2006 Mar 8. J Pediatr Psychol. 2006. PMID: 16524959

8

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Kruszka P, et al. Among authors: muenke m. J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20. J Med Genet. 2015. PMID: 25412741 Free PMC article.

9

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.

Kruszka P, Hart RA, Hadley DW, Muenke M, Habal MB. Kruszka P, et al. Among authors: muenke m. J Craniofac Surg. 2015 Jan;26(1):3-5. doi: 10.1097/SCS.0000000000001377. J Craniofac Surg. 2015. PMID: 25569381 No abstract available.

10

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M. Addissie YA, et al. Among authors: muenke m. Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249544 Review.

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