Crosby AH - Search Results

1

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Simpson MA, et al. Among authors: crosby ah. Clin Genet. 2009 Mar;75(3):271-6. doi: 10.1111/j.1399-0004.2008.01118.x. Clin Genet. 2009. PMID: 19250384

2

Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12.

Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S. Brady AF, et al. Eur J Hum Genet. 1997 Sep-Oct;5(5):336-7. Eur J Hum Genet. 1997. PMID: 9412792 No abstract available.

3

Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations.

Crosby A, Jeffery S, Homfray T, Taylor R, Patton M. Crosby A, et al. Genet Test. 1999;3(3):305-7. doi: 10.1089/109065799316644. Genet Test. 1999. PMID: 10495932

4

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S. Afzal AR, et al. Hum Genet. 2000 Mar;106(3):351-4. doi: 10.1007/s004390051049. Hum Genet. 2000. PMID: 10798366

5

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.

Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S. Ion A, et al. Among authors: crosby ah. J Med Genet. 2000 Nov;37(11):884-6. doi: 10.1136/jmg.37.11.884. J Med Genet. 2000. PMID: 11185075 Free PMC article. No abstract available.

6

Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda.

Patel H, Nardelli M, Fenn T, Houlston R, Coonar A, Patton MA, Crosby AH. Patel H, et al. Among authors: crosby ah. Br J Dermatol. 2001 Apr;144(4):731-4. doi: 10.1046/j.1365-2133.2001.04127.x. Br J Dermatol. 2001. PMID: 11298530

7

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH. Patel H, et al. Among authors: crosby ah. Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25. Am J Hum Genet. 2001. PMID: 11389484 Free PMC article.

8

Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.

Patel H, Hart PE, Warner T, Allen I, Phillimore HE, Silver JR, Wood NW, Jeffery S, Patton MA, Crosby AH. Patel H, et al. Among authors: crosby ah. Am J Med Genet. 2001 Jul 22;102(1):68-72. doi: 10.1002/1096-8628(20010722)102:1<68::aid-ajmg1411>3.0.co;2-r. Am J Med Genet. 2001. PMID: 11471175

9

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Tartaglia M, et al. Among authors: crosby ah. Nat Genet. 2001 Dec;29(4):465-8. doi: 10.1038/ng772. Nat Genet. 2001. PMID: 11704759

10

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Tartaglia M, et al. Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1. Am J Hum Genet. 2002. PMID: 11992261 Free PMC article.

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