Works matching IS 00099163 AND DT 2003 AND VI 63 AND IP 5

Results: 17

Familial predisposition to tufted angioma: identification of blood and lymphatic vascular components.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 393, doi. 10.1034/j.1399-0004.2003.00034.x

By:

Tille, J-C;
Morris, MA;
Bründler, M-A;
Pepper, MS

Publication type:

Article

It's only teeth – are there limits to genetic testing?

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 333, doi. 10.1034/j.1399-0004.2003.00045.x

By:

Aldred, MJ;
Crawford, PJM;
Savarirayan, R;
Savulescu, J

Publication type:

Article

Interaction between SREBP-1a and APOB polymorphisms influences total and low-density lipoprotein cholesterol levels in patients with coronary artery disease.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 380, doi. 10.1034/j.1399-0004.2003.00057.x

By:

Rios, DLS;
Vargas, AF;
Torres, MR;
Zago, AJ;
Callegari-Jacques, SM;
Hutz, MH

Publication type:

Article

Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 368, doi. 10.1034/j.1399-0004.2003.00060.x

By:

Miller, A;
Brown, LK;
Pastores, GM;
Desnick, RJ

Publication type:

Article

APOA5 -1131T>C polymorphism is associated with triglyceride levels in Chinese men.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 377, doi. 10.1034/j.1399-0004.2003.00063.x

By:

Baum, L;
Tomlinson, B;
Thomas, GN

Publication type:

Article

Five new subjects with ring chromosome 22.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 410, doi. 10.1034/j.1399-0004.2003.00064.x

By:

Ishmael, HA;
Cataldi, D;
Begleiter, ML;
Pasztor, LM;
Dasouki, MJ;
Butler, MG

Publication type:

Article

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 400, doi. 10.1034/j.1399-0004.2003.00067.x

By:

Kanavakis, E;
Efthymiadou, A;
Strofalis, S;
Doudounakis, S;
Traeger-Synodinos, J;
Tzetis, M

Publication type:

Article

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 418, doi. 10.1034/j.1399-0004.2003.00069.x

By:

Tadin-Strapps, M;
Salas-Alanis, JC;
Moreno, L;
Warburton, D;
Martinez-Mir, A;
Christiano, AM

Publication type:

Article

Triple A syndrome: genotype–phenotype assessment.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 415, doi. 10.1034/j.1399-0004.2003.00070.x

By:

Prpic, I;
Huebner, A;
Persic, M;
Handschug, K;
Pavletic, M

Publication type:

Article

Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 358, doi. 10.1034/j.1399-0004.2003.00072.x

By:

Heng, HHQ;
Ye, CJ;
Yang, F;
Ebrahim, S;
Liu, G;
Bremer, SW;
Thomas, CM;
Ye, J;
Chen, TJ;
Tuck-Muller, C;
Yu, JW;
Krawetz, SA;
Johnson, A

Publication type:

Article

Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 427, doi. 10.1034/j.1399-0004.2003.00073.x

By:

Martin, N;
Zügge, K;
Brandt, R;
Friebel, D;
Janssen, B;
Zimmerhackl, L B

Publication type:

Article

Evaluation of a Tay-Sachs Disease screening program.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 386, doi. 10.1034/j.1399-0004.2003.00074.x

By:

Gason, AA;
Sheffield, E;
Bankier, A;
Aitken, MA;
Metcalfe, S;
Barlow Stewart, K;
Delatycki, MB

Publication type:

Article

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 423, doi. 10.1034/j.1399-0004.2003.00076.x

By:

Tartaglia, M;
Cotter, PD;
Zampino, G;
Gelb, BD;
Rauen, KA

Publication type:

Article

New mutations, new etiologies for Parkinson disease.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 352, doi. 10.1034/j.1399-0004.2003.00086.x

By:

Warby, S;
MacDonald, MLE;
Abrahams, BS

Publication type:

Article

Ironing out hemochromatosis heterogeneity.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 354, doi. 10.1034/j.1399-0004.2003.t01-1-00086.x

By:

MacDonald, MLE

Publication type:

Article

Mutations for a cytochrome c oxidase deficiency found by a novel strategy – up front computation makes the genomic haystack more manageable.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 355, doi. 10.1034/j.1399-0004.2003.t01-2-00086.x

By:

Abrahams, BS

Publication type:

Article

Vascular malformations: localized defects in vascular morphogenesis.

Published in:

Clinical Genetics, 2003, v. 63, n. 5, p. 340, doi. 10.1034/j.1399-0004.2003.00092.x

By:

Brouillard, P;
Vikkula, M

Publication type:

Article