Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 14

Results: 10

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1449

By:

Kenneson, Aileen

Publication type:

Article

Functional analysis of neurofibromatosis 2 (NF2) missense mutations.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1519

By:

Gutmann, David H.

Publication type:

Article

A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1475

By:

Arima, Takahiro

Publication type:

Article

Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1491

By:

Gaunt, Tom R.

Publication type:

Article

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1441

By:

Nakamura, Koichiro

Publication type:

Article

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1465

By:

Michaud, Jacques L.

Publication type:

Article

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14

By:

Cummings, Christopher J.;
Sun, Yaling;
Opal, Puneet;
Antalffy, Barbara;
Mestril, Ruben;
Orr, Harry T.;
Dillmann, Wolfgang H.;
Zoghbi, Huda Y.

Publication type:

Article

Mutations in the diastrophic dysplasia sulfate transporter ( DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1485

By:

Karniski, Lawrence P.

Publication type:

Article

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1503

By:

Cacheux, Valère

Publication type:

Article

An element in intron 1 of the CFTR gene augments intestinal expression in vivo.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1455

By:

Rowntree, Rebecca K.

Publication type:

Article