Muenke M - Search Results

1

Wallis D, Muenke M. Wallis D, et al. Among authors: muenke m. Hum Mutat. 2000;16(2):99-108. doi: 10.1002/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0. Hum Mutat. 2000. PMID: 10923031 Review.

2

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. Wallis DE, et al. Among authors: muenke m. Nat Genet. 1999 Jun;22(2):196-8. doi: 10.1038/9718. Nat Genet. 1999. PMID: 10369266

3

Molecular mechanisms of holoprosencephaly.

Wallis DE, Muenke M. Wallis DE, et al. Among authors: muenke m. Mol Genet Metab. 1999 Oct;68(2):126-38. doi: 10.1006/mgme.1999.2895. Mol Genet Metab. 1999. PMID: 10527664 Free article. Review.

4

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Ming JE, et al. Among authors: muenke m. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695-5. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941477

5

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.

Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE. Schell-Apacik C, et al. Among authors: muenke m. Hum Genet. 2003 Jul;113(2):170-7. doi: 10.1007/s00439-003-0950-4. Epub 2003 Apr 23. Hum Genet. 2003. PMID: 12709790

6

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

7

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. Roessler E, et al. Among authors: muenke m. Hum Mol Genet. 1997 Oct;6(11):1847-53. doi: 10.1093/hmg/6.11.1847. Hum Mol Genet. 1997. PMID: 9302262

8

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. Nanni L, et al. Among authors: muenke m. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296

9

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.

Orioli IM, Castilla EE, Ming JE, Nazer J, Burle de Aguiar MJ, Llerena JC, Muenke M. Orioli IM, et al. Among authors: muenke m. Hum Genet. 2001 Jul;109(1):1-6. doi: 10.1007/s004390100537. Hum Genet. 2001. PMID: 11479728

10

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

Schell U, Wienberg J, Köhler A, Bray-Ward P, Ward DE, Wilson WG, Allen WP, Lebel RR, Sawyer JR, Campbell PL, Aughton DJ, Punnett HH, Lammer EJ, Kao FT, Ward DC, Muenke M. Schell U, et al. Among authors: muenke m. Hum Mol Genet. 1996 Feb;5(2):223-9. doi: 10.1093/hmg/5.2.223. Hum Mol Genet. 1996. PMID: 8824878

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