Read AP - Search Results

1

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M. Bondurand N, et al. Among authors: read ap. Hum Mol Genet. 1999 Sep;8(9):1785-9. doi: 10.1093/hmg/8.9.1785. Hum Mol Genet. 1999. PMID: 10441344

2

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M. Pingault V, et al. Among authors: read ap. Nat Genet. 1998 Feb;18(2):171-3. doi: 10.1038/ng0298-171. Nat Genet. 1998. PMID: 9462749

3

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. DeStefano AL, et al. Among authors: read ap. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197

4

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read AP. Tassabehji M, et al. Among authors: read ap. Hum Mol Genet. 1994 Jul;3(7):1069-74. doi: 10.1093/hmg/3.7.1069. Hum Mol Genet. 1994. PMID: 7981674

5

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL. Rowe PS, et al. Among authors: read ap. Hum Mol Genet. 1997 Apr;6(4):539-49. doi: 10.1093/hmg/6.4.539. Hum Mol Genet. 1997. PMID: 9097956

6

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ. Tassabehji M, et al. Among authors: read ap. Hum Mol Genet. 1998 Jun;7(6):1021-8. doi: 10.1093/hmg/7.6.1021. Hum Mol Genet. 1998. PMID: 9580666

7

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).

Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Amiel J, et al. Among authors: read ap. Clin Dysmorphol. 1998 Jan;7(1):17-20. Clin Dysmorphol. 1998. PMID: 9546825

8

Waardenburg syndrome.

Read AP, Newton VE. Read AP, et al. J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. J Med Genet. 1997. PMID: 9279758 Free PMC article. Review.

9

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M. McGaughran JM, et al. Among authors: read ap. Eur J Hum Genet. 2003 Jun;11(6):468-74. doi: 10.1038/sj.ejhg.5200987. Eur J Hum Genet. 2003. PMID: 12774041

10

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP. Tassabehji M, et al. Among authors: read ap. Hum Mol Genet. 1997 Jul;6(7):1029-36. doi: 10.1093/hmg/6.7.1029. Hum Mol Genet. 1997. PMID: 9215671

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