Pesquisa | Secretaria de Estado da Saúde

1.

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

Tassabehji, M; Newton, V E; Read, A P.

Nat Genet ; 8(3): 251-5, 1994 Nov.

Artigo Inglês | MEDLINE | ID: mdl-7874167

2.

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

Hughes, A E; Newton, V E; Liu, X Z; Read, A P.

Nat Genet ; 7(4): 509-12, 1994 Aug.

Artigo Inglês | MEDLINE | ID: mdl-7951321

3.

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

Tassabehji, M; Read, A P; Newton, V E; Patton, M; Gruss, P; Harris, R; Strachan, T.

Nat Genet ; 3(1): 26-30, 1993 Jan.

Artigo Inglês | MEDLINE | ID: mdl-8490648

4.

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault, V; Bondurand, N; Kuhlbrodt, K; Goerich, D E; Préhu, M O; Puliti, A; Herbarth, B; Hermans-Borgmeyer, I; Legius, E; Matthijs, G; Amiel, J; Lyonnet, S; Ceccherini, I; Romeo, G; Smith, J C; Read, A P; Wegner, M; Goossens, M.

Nat Genet ; 18(2): 171-3, 1998 Feb.

Artigo Inglês | MEDLINE | ID: mdl-9462749

5.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

Toomes, C; James, J; Wood, A J; Wu, C L; McCormick, D; Lench, N; Hewitt, C; Moynihan, L; Roberts, E; Woods, C G; Markham, A; Wong, M; Widmer, R; Ghaffar, K A; Pemberton, M; Hussein, I R; Temtamy, S A; Davies, R; Read, A P; Sloan, P; Dixon, M J; Thakker, N S.

Nat Genet ; 23(4): 421-4, 1999 Dec.

Artigo Inglês | MEDLINE | ID: mdl-10581027

6.

PAX genes.

Strachan, T; Read, A P.

Curr Opin Genet Dev ; 4(3): 427-38, 1994 Jun.

Artigo Inglês | MEDLINE | ID: mdl-7919921

7.

Huntington's disease: testing the test.

Read, A P.

Nat Genet ; 4(4): 329-30, 1993 Aug.

Artigo Inglês | MEDLINE | ID: mdl-8401575

8.

Pax genes--paired feet in three camps.

Read, A P.

Nat Genet ; 9(4): 333-4, 1995 Apr.

Artigo Inglês | MEDLINE | ID: mdl-7795631

9.

LIM-kinase deleted in Williams syndrome.

Tassabehji, M; Metcalfe, K; Fergusson, W D; Carette, M J; Dore, J K; Donnai, D; Read, A P; Pröschel, C; Gutowski, N J; Mao, X; Sheer, D.

Nat Genet ; 13(3): 272-3, 1996 Jul.

Artigo Inglês | MEDLINE | ID: mdl-8673124

10.

Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity.

Wu, C L; Sloan, P; Read, A P; Harris, R; Thakker, N.

Cancer Res ; 54(24): 6484-8, 1994 Dec 15.

Artigo Inglês | MEDLINE | ID: mdl-7987846

11.

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

Smith, S J; Rucka, A K; Berry, J L; Davies, M; Mylchreest, S; Paterson, C R; Heath, D A; Tassabehji, M; Read, A P; Mee, A P; Mawer, E B.

J Bone Miner Res ; 14(5): 730-9, 1999 May.

Artigo Inglês | MEDLINE | ID: mdl-10320521

12.

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

McGaughran, J M; Oates, A; Donnai, D; Read, A P; Tassabehji, M.

Eur J Hum Genet ; 11(6): 468-74, 2003 Jun.

Artigo Inglês | MEDLINE | ID: mdl-12774041

13.

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Tassabehji, M; Carette, M; Wilmot, C; Donnai, D; Read, A P; Metcalfe, K.

Eur J Hum Genet ; 7(7): 737-47, 1999.

Artigo Inglês | MEDLINE | ID: mdl-10573005

14.

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe, K; Rucka, A K; Smoot, L; Hofstadler, G; Tuzler, G; McKeown, P; Siu, V; Rauch, A; Dean, J; Dennis, N; Ellis, I; Reardon, W; Cytrynbaum, C; Osborne, L; Yates, J R; Read, A P; Donnai, D; Tassabehji, M.

Eur J Hum Genet ; 8(12): 955-63, 2000 Dec.

Artigo Inglês | MEDLINE | ID: mdl-11175284

15.

X-linked and FSH dystrophies in one family.

Lecky, B R; MacKenzie, J M; Read, A P; Wilcox, D E.

Neuromuscul Disord ; 1(4): 275-8, 1991.

Artigo Inglês | MEDLINE | ID: mdl-1822806

16.

Matching for properdin factor B (Bf) in renal transplantation.

Dyer, P A; Klouda, P T; Johnson, R W; Read, A P; Mallick, N P; Harris, R.

Transplantation ; 32(5): 424-5, 1981 Nov.

Artigo Inglês | MEDLINE | ID: mdl-7036459

17.

Monozygotic twinning and Wiedemann-Beckwith syndrome.

Clayton-Smith, J; Read, A P; Donnai, D.

Am J Med Genet ; 42(4): 633-7, 1992 Feb 15.

Artigo Inglês | MEDLINE | ID: mdl-1609846

18.

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

Liu, X Z; Newton, V E; Read, A P.

Am J Med Genet ; 55(1): 95-100, 1995 Jan 02.

Artigo Inglês | MEDLINE | ID: mdl-7702105

19.

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).

Norman, A M; Read, A P; Clayton-Smith, J; Andrews, T; Donnai, D.

Am J Med Genet ; 42(4): 638-41, 1992 Feb 15.

Artigo Inglês | MEDLINE | ID: mdl-1609847

20.

Genetic analysis in rheumatoid arthritis.

Read, A P.

Dis Markers ; 4(1-2): 59-66, 1986 Jun.

Artigo Inglês | MEDLINE | ID: mdl-3330698

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

PAX genes.

Huntington's disease: testing the test.

Pax genes--paired feet in three camps.

LIM-kinase deleted in Williams syndrome.

Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity.

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

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

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Elastin: mutational spectrum in supravalvular aortic stenosis.

X-linked and FSH dystrophies in one family.

Matching for properdin factor B (Bf) in renal transplantation.

Monozygotic twinning and Wiedemann-Beckwith syndrome.

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).

Genetic analysis in rheumatoid arthritis.