Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 4

Results: 13

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200595

By:

Houten, Sander M;
Koster, Janet;
Romeijn, Gerrit-Jan;
Frenkel, Joost;
Di Rocco, Maja;
Caruso, Ubaldo;
Landrieu, Pierre;
Kelley, Richard I;
Kuis, Wietse;
Poll-The, Bwee Tien;
Gibson, K Michael;
Wanders, Ronald JA;
Waterham, Hans R

Publication type:

Article

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 260

By:

Cuisset, Laurence;
Drenth, Joost PH;
Simon, Anna;
Vincent, Marie Francoise;
van der Velde Visser, Saskia;
van der Meer, Jos WM;
Grateau, Gilles;
Delpech, Marc

Publication type:

Article

Alu insertion polymorphisms and the genetic structure of human populations from the Caucasus.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 267, doi. 10.1038/sj.ejhg.5200615

By:

Nasidze, Ivane;
Risch, Gregory M;
Robichaux, Myles;
Sherry, Stephen T;
Batzer, Mark A;
Stoneking, Mark

Publication type:

Article

3rd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis: SNPs: ‘Some Notable Progress’.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 316, doi. 10.1038/sj.ejhg.5200616

By:

White, P Scott;
Kwok, Pui-Yan;
Oefner, Peter;
Brookes, Anthony J

Publication type:

Article

Haplotypes vs single marker linkage disequilibrium tests: what do we gain?

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 291, doi. 10.1038/sj.ejhg.5200619

By:

Akey, Joshua;
Jin, Li;
Xiong, Momiao

Publication type:

Article

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 237, doi. 10.1038/sj.ejhg.5200620

By:

Mühl, Adolf;
Möslinger, Dorothea;
Item, Chike B;
Stöckler-Ipsiroglu, Silvia

Publication type:

Article

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA<sup>Leu(CUN)</sup> and is associated with dilated cardiomyopathy.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 311, doi. 10.1038/sj.ejhg.5200622

By:

Grasso, Maurizia;
Diegoli, Marta;
Brega, Agnese;
Campana, Carlo;
Tavazzi, Luigi;
Arbustini, Eloisa

Publication type:

Article

An alpha<sub>1</sub>-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200623

By:

Henry, Michael T;
Cave, Samantha;
Rendall, Jackie;
O'Connor, Clare M;
Morgan, Kevin;
FitzGerald, Muiris X;
Kalsheker, Noor

Publication type:

Article

The family based association test method: strategies for studying general genotype–phenotype associations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 301, doi. 10.1038/sj.ejhg.5200625

By:

Horvath, Steve;
Xu, Xin;
Laird, Nan M

Publication type:

Article

Is mitochondrial DNA depletion involved in Alzheimer's disease?

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 279

By:

Rodríguez-Santiago, Benjamín;
Casademont, Jordi;
Nunes, Virginia

Publication type:

Article

Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 307, doi. 10.1038/sj.ejhg.5200630

By:

Alexander, Christiane;
Bernstein, Steven L;
Rocchi, Mariano;
Auburger, Georg

Publication type:

Article

A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 286, doi. 10.1038/sj.ejhg.5200631

By:

Schuring-Blom, G Heleen;
Boer, Kees;
Leschot, Nico J

Publication type:

Article

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 244, doi. 10.1038/sj.ejhg.5200633

By:

Heath, Karen E;
Humphries, Steve E;
Middleton-Price, Helen;
Boxer, Maureen

Publication type:

Article