Works matching IS 00099163 AND DT 2002 AND VI 62 AND IP 1

Results: 16

Service provision of complex mutation analysis: a technical and economic appraisal using dystrophin point mutation analysis as an example.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 29, doi. 10.1034/j.1399-0004.2002.620104.x

By:

Nixon, J;
Cockburn, D;
Hopkin, J;
Seller, A;
Huson, SM

Publication type:

Article

Non-syndromic autosomal-dominant deafness.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 1, doi. 10.1034/j.1399-0004.2002.620101.x

By:

Petersen, MB

Publication type:

Article

Development and diseases of the pancreas.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 14, doi. 10.1034/j.1399-0004.2002.620102.x

By:

Johansson, KA;
Grapin-Botton, A

Publication type:

Article

Two more genes involved in recental retardation in an ever x-panding repertoire of proteins and pathways.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 24, doi. 10.1034/j.1399-0004.2002.6201031.x

By:

Devon, RS

Publication type:

Article

Re-engineering dystrophin for gene therapy of Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 25, doi. 10.1034/j.1399-0004.2002.610403_2.x

By:

Raamsdonk, J van

Publication type:

Article

Towards an understanding of the molecular pathogenesis of autosomal-recessive polycystic kidney disease (ARPKD): identification of a novel protein, fibrocystin.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 27, doi. 10.1034/j.1399-0004.2002.6201033.x

By:

Yanai, A

Publication type:

Article

Apolipoprotein E gene polymorphism in cerebrovascular disease: a case–controlstudy.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 39, doi. 10.1034/j.1399-0004.2002.620105.x

By:

Luthra, K;
Prasad, K;
Kumar, P;
Dwivedi, M;
Pandey, RM;
Das, N

Publication type:

Article

Influence of the angiotensin-converting enzyme gene insertion/deletion polymorphism on lipoprotein/lipid response to gemfibrozil.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 45, doi. 10.1034/j.1399-0004.2002.620106.x

By:

Bossé, Y;
Vohl, M-C;
Dumont, M;
Brochu, M;
Bergeron, J;
Després, J-P;
Prud'homme, D

Publication type:

Article

The relationship between plasma t-PA and PAI-1 levels is dependent on epistatic effects of the ACE I/D and PAI-1 4G/5G polymorphisms.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 53, doi. 10.1034/j.1399-0004.2002.620107.x

By:

Moore, JH;
Smolkin, ME;
Lamb, JM;
Brown, NJ;
Vaughan, DE

Publication type:

Article

Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 60, doi. 10.1034/j.1399-0004.2002.620108.x

By:

Andrieux, J;
Audrézet, MP;
Frachon, I;
Leroyer, C;
Roge, C;
Scotet, V;
Férec, C

Publication type:

Article

DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 68, doi. 10.1034/j.1399-0004.2002.620109.x

By:

Ludwig, EH;
Mahley, RW;
Palaoglu, E;
Özbayrakçı, S;
Balestra, ME;
Borecki, IB;
Innerarity, TL;
Farese, RV

Publication type:

Article

A comparison of combinatorial partitioning and linear regression for the detection of epistatic effects of the ACE I/D and PAI-1 4G/5G polymorphisms on plasma PAI-1 levels.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 74, doi. 10.1034/j.1399-0004.2002.620110.x

By:

Moore, JH;
Lamb, JM;
Brown, NJ;
Vaughan, DE

Publication type:

Article

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 80, doi. 10.1034/j.1399-0004.2002.620111.x

By:

McWilliams, S;
Nelson, T;
Sudo, RT;
Zapata-Sudo, G;
Batti, M;
Sambuughin, N

Publication type:

Article

657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 84, doi. 10.1034/j.1399-0004.2002.620112.x

By:

Tekin, M;
Doğu, F;
Taçyıldız, N;
Akar, E;
İkincioğullari, A;
Oğur, G;
Yavuz, G;
Babacan, E;
Akar, N

Publication type:

Article

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 89, doi. 10.1034/j.1399-0004.2002.620113.x

By:

Eggermann, K;
Mau, UA;
Bujdosó, G;
Koltai, E;
Engels, H;
Schubert, R;
Eggermann, T;
Raff, R;
Schwanitz, G

Publication type:

Article

Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men.

Published in:

Clinical Genetics, 2002, v. 62, n. 1, p. 94, doi. 10.1034/j.1399-0004.2002.620114.x

By:

Fiedler, J;
Bittner, M;
Puhl, W;
Brenner, RE

Publication type:

Article