Works in Clinical Genetics, 2001, Vol 59, Issue 6

Results: 15

Long-term reversal of hypercholesterolemia in low-density lipoprotein receptor (LDLR)-deficient mice by adenovirus-mediated LDLR gene transfer combined with CD154 blockade.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 391, doi. 10.1111/j.1399-0004.2001.590602.5.x

By:

Lewis, MES

Publication type:

Article

Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 438, doi. 10.1034/j.1399-0004.2001.590609.x

By:

Forster-Gibson, CJ;
Davies, J;
MacKenzie, JJ;
Harrison, K

Publication type:

Article

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype–phenotype correlation.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 444, doi. 10.1034/j.1399-0004.2001.590610.x

By:

Pepe, G;
Giusti, B;
Evangelisti, L;
Porciani, MC;
Brunelli, T;
Giurlani, L;
Attanasio, M;
Fattori, R;
Bagni, C;
Comeglio, P;
Abbate, R;
Gensini, GF

Publication type:

Article

Genetic landmarks through philately: the Human Genome Project and the new millennium.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 393, doi. 10.1034/j.1399-0004.2001.590603.x

By:

Galenzoski, K;
Chudley, AE

Publication type:

Article

Antley–Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 451, doi. 10.1034/j.1399-0004.2001.590611.x

By:

Yamamoto, T;
Pipo, JR;
Ninomiya, H;
Ieshima, A;
Koeda, T

Publication type:

Article

The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 375, doi. 10.1034/j.1399-0004.2001.590601.x

By:

Nowaczyk, MJM;
Waye, JS

Publication type:

Article

HotSpots.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 387, doi. 10.1034/j.1399-0004.2001.590602.x

By:

Lewis, MES

Publication type:

Article

Treatment of severe hypercholesterolemia in apolipoprotein E-deficient mice by intramuscular injection of plasmid DNA.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 389, doi. 10.1034/j.1399-0004.2001.590602.3.x

By:

Lewis, MES

Publication type:

Article

Hammerhead ribozyme as a therapeutic agent for hyperlipidemia: Production of truncated apolipoprotein B and hypolipidemic effects in a dyslipidemia murine model.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 389, doi. 10.1034/j.1399-0004.2001.590602.3.x

By:

Lewis, MES

Publication type:

Article

Prolonged correction of hyperlipidemia in mice with familial hypercholesterolemia using an adeno-associated viral vector expressing very-low-density lipoprotein receptor.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 390, doi. 10.1111/j.1399-0004.2001.590602.4.x

By:

Lewis, MES

Publication type:

Article

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 424, doi. 10.1034/j.1399-0004.2001.590607.x

By:

Katsanis, N;
Shroyer, NF;
Lewis, RA;
Cavender, JC;
Al-Rajhi, AA;
Jabak, M;
Lupski, JR

Publication type:

Article

Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 430, doi. 10.1034/j.1399-0004.2001.590608.x

By:

Dalal, I;
Grunebaum, E;
Cohen, A;
Roifman, CM

Publication type:

Article

LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 397, doi. 10.1034/j.1399-0004.2001.590604.x

By:

Brorholt-Petersen, JU;
Jensen, HK;
Raungaard, B;
Gregersen, N;
Faergeman, O

Publication type:

Article

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 406, doi. 10.1034/j.1399-0004.2001.590605.x

By:

Lebo, RV;
Ikuta, T;
Milunsky, JM;
Milunsky, A

Publication type:

Article

Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 418, doi. 10.1034/j.1399-0004.2001.590606.x

By:

Chappuis, PO;
Hamel, N;
Paradis, A-J;
Deschênes, J;
Robidoux, A;
Potvin, C;
Cantin, J;
Tonin, P;
Ghadirian, P;
Foulkes, WD

Publication type:

Article