Crosby A - Search Results

1

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. Among authors: crosby a. Eur J Hum Genet. 1997 Sep-Oct;5(5):336-7. Eur J Hum Genet. 1997. PMID: 9412792 No abstract available.

2

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

3

Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder.

Jeffery S, Crosby A, Plange-Rhule J, Amoah-Danquah J, Acheampong JW, Eastwood JB, Malik AK. Jeffery S, et al. Among authors: crosby a. Genet Test. 1999;3(4):375-7. doi: 10.1089/gte.1999.3.375. Genet Test. 1999. PMID: 10627947

4

A dominant relationship between the ACE D allele and serum ACE levels in a Ghanaian population.

Jeffery S, Saggar Malik AK, Crosby A, Bland M, Eastwood JB, Amoah-Danquah J, Acheampong JW, Plange-Rhule J. Jeffery S, et al. Among authors: crosby a. J Med Genet. 1999 Nov;36(11):869-70. J Med Genet. 1999. PMID: 10636736 Free PMC article. No abstract available.

5

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. Among authors: crosby a. Hum Genet. 2000 Mar;106(3):351-4. doi: 10.1007/s004390051049. Hum Genet. 2000. PMID: 10798366

6

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. McKoy G, et al. Among authors: crosby a. Lancet. 2000 Jun 17;355(9221):2119-24. doi: 10.1016/S0140-6736(00)02379-5. Lancet. 2000. PMID: 10902626

7

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.

8

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

9

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.

10

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

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