Muenke M - Search Results

1

Phenotype delineation of ZNF462 related syndrome.

Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: muenke m. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 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. Am J Med Genet. 1991 Dec 15;41(4):548-56. doi: 10.1002/ajmg.1320410436. Am J Med Genet. 1991. PMID: 1776653

3

Physical mapping of the holoprosencephaly critical region in 18p11.3.

Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M. Overhauser J, et al. Among authors: muenke m. Am J Hum Genet. 1995 Nov;57(5):1080-5. Am J Hum Genet. 1995. PMID: 7485158 Free PMC article.

4

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.

5

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: muenke m. Am J Hum Genet. 1993 May;52(5):895-906. Am J Hum Genet. 1993. PMID: 8488839 Free PMC article. Review.

6

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

7

Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.

Robin NH, Segel B, Carpenter G, Muenke M. Robin NH, et al. Among authors: muenke m. Am J Med Genet. 1996 Mar 15;62(2):184-91. doi: 10.1002/(SICI)1096-8628(19960315)62:2<184::AID-AJMG13>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8882401

8

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO. Oldridge M, et al. Among authors: muenke m. Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137. Hum Mol Genet. 1997. PMID: 9002682

9

Clinical and molecular analysis in Joubert syndrome.

Pellegrino JE, Lensch MW, Muenke M, Chance PF. Pellegrino JE, et al. Among authors: muenke m. Am J Med Genet. 1997 Oct 3;72(1):59-62. doi: 10.1002/(sici)1096-8628(19971003)72:1<59::aid-ajmg12>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9295076

10

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

Feldman GJ, Ward DE, Lajeunie-Renier E, Saavedra D, Robin NH, Proud V, Robb LJ, Der Kaloustian V, Carey JC, Cohen MM Jr, Cormier V, Munnich A, Zackai EH, Wilkie AO, Price RA, Muenke M. Feldman GJ, et al. Among authors: muenke m. Hum Mol Genet. 1997 Oct;6(11):1937-41. doi: 10.1093/hmg/6.11.1937. Hum Mol Genet. 1997. PMID: 9302274

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