Scherer SW - Search Results

1

Contribution of SHANK3 mutations to autism spectrum disorder.

Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Moessner R, et al. Among authors: scherer sw. Am J Hum Genet. 2007 Dec;81(6):1289-97. doi: 10.1086/522590. Epub 2007 Oct 16. Am J Hum Genet. 2007. PMID: 17999366 Free PMC article.

2

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, et al. Scherer SW, et al. Hum Mol Genet. 1994 Aug;3(8):1345-54. doi: 10.1093/hmg/3.8.1345. Hum Mol Genet. 1994. PMID: 7987313

3

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA, et al. Scherer SW, et al. Am J Hum Genet. 1994 Jul;55(1):12-20. Am J Hum Genet. 1994. PMID: 8023840 Free PMC article. Review.

4

Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.

Scherer SW, Rommens JM, Soder S, Wong E, Plavsic N, Tompkins BJ, Beattie A, Kim J, Tsui LC. Scherer SW, et al. Hum Mol Genet. 1993 Jun;2(6):751-60. doi: 10.1093/hmg/2.6.751. Hum Mol Genet. 1993. PMID: 8353494

5

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC. Crackower MA, et al. Among authors: scherer sw. Hum Mol Genet. 1996 May;5(5):571-9. doi: 10.1093/hmg/5.5.571. Hum Mol Genet. 1996. PMID: 8733122

6

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Belloni E, et al. Among authors: scherer sw. Nat Genet. 1996 Nov;14(3):353-6. doi: 10.1038/ng1196-353. Nat Genet. 1996. PMID: 8896571

7

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.

Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M. Roessler E, et al. Among authors: scherer sw. Hum Genet. 1997 Aug;100(2):172-81. doi: 10.1007/s004390050486. Hum Genet. 1997. PMID: 9254845

8

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.

Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH. Ling M, et al. Among authors: scherer sw. Hum Mol Genet. 1998 Mar;7(3):501-5. doi: 10.1093/hmg/7.3.501. Hum Mol Genet. 1998. PMID: 9467010

9

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M. Vargas FR, et al. Among authors: scherer sw. Hum Genet. 1998 Apr;102(4):387-92. doi: 10.1007/s004390050709. Hum Genet. 1998. PMID: 9600232 Review.

10

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Minassian BA, et al. Among authors: scherer sw. Nat Genet. 1998 Oct;20(2):171-4. doi: 10.1038/2470. Nat Genet. 1998. PMID: 9771710

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