Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 1

Results: 13

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 86, doi. 10.1038/sj.ejhg.5200761

By:

Moncla, Anne;
Kpebe, Arlette;
Missirian, Chantal;
Mancini, Josette;
Villard, Laurent

Publication type:

Article

Relation between tumour necrosis factor polymorphism TNFα-308 and risk of asthma.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 82, doi. 10.1038/sj.ejhg.5200746

By:

Witte, John S.;
Palmer, Lyle J.;
O'Connor, Richard D.;
Hopkins, Penelope J.;
Hall, Jeff M.

Publication type:

Article

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200745

By:

Topçu, Meral;
Akyerli, Cemaliye;
Sayi, Ayça;
Toruner, Gökçe A.;
Kocoglu, Suha R.;
Cimbis, Mine;
Ozcelik, Tayfun

Publication type:

Article

A large deletion including most of GjB6 in recessive non syndromic deafness: a digenic effect?

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 72, doi. 10.1038/sj.ejhg.5200762

By:

Pallares-Ruiz, Nathalie;
Blanchet, Patricia;
Mondain, Michel;
Claustres, Mireille;
Roux, Anne-Francoise

Publication type:

Article

A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 62, doi. 10.1038/sj.ejhg.5200766

By:

Montpetit, Alexandre;
Boily, Gino;
Sinnett, Daniel

Publication type:

Article

The transcriptional map of the common elimiated region 1 (C3CER1) in 3p21.3.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 52, doi. 10.1038/sj.ejhg.5200758

By:

Kiss, Hajnalka;
Ying Yang;
Kiss, Csaba;
Andersson, Kenth;
Klein, George;
Imreh, Stephan;
Dumanski, Jan P.

Publication type:

Article

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 44, doi. 10.1038/sj.ejhg.5200757

By:

Tomkins, Darrell J.;
McDonald, Helen L.;
Farrell, Sandra A.;
Brown, Carolyn J.

Publication type:

Article

Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI).

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 36, doi. 10.1038/sj.ejhg.5200739

By:

Bardien-Kruger, Soraya;
Wulff, Heike;
Arieff, Zainu;
Brink, Paul;
Chandy, K George;
Corfield, Valerie

Publication type:

Article

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 26, doi. 10.1038/sj.ejhg.5200760

By:

Pujana, Miguel Angel;
Nadal, Marga;
Guitart, Miriam;
Armengol, Lluís;
Gratacòs, Mònica;
Estivill, Xavier

Publication type:

Article

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 17, doi. 10.1038/sj.ejhg.5200750

By:

Appel, Silke;
Filter, Mathias;
Reis, André;
Hennies, Hans Christian;
Bergheim, Anton;
Ogilvie, Emma;
Arndt, Silke;
Simmons, Andrew;
Lovett, Michael;
Hide, Winston;
Ramsay, Michèle;
Reichwald, Kathrin;
Zimmermann, Wolfgang;
Rosenthal, André

Publication type:

Article

DNA methylation, imptinting and cancer.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 6, doi. 10.1038/sj.ejhg.5200768

By:

Plass, Christoph;
Soloway, Paul D.

Publication type:

Article

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90[suprsk2], RSK2, ISPK, MAPKAP1).

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 2, doi. 10.1038/sj.ejhg.5200738

By:

Jacquot, Sylvie;
Zeniou, Maria;
touraine, Renaud;
Hanauer, Andr&eacute

Publication type:

Article

EDITORIAL.

Published in:

2002

By:

van Ommen, Gert-Jan B.

Publication type:

Editorial