Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 7

Results: 19

Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 752, doi. 10.1038/sj.ejhg.5201834

By:

Keymolen, Kathelijn;
Goossens, Veerle;
De rycke, Martine;
Sermon, Karen;
Boelaert, Kristel;
Bonduelle, Maryse;
Van Steirteghem, André;
Liebaers, Inge

Publication type:

Article

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 767, doi. 10.1038/sj.ejhg.5201823

By:

Caux, Frédéric;
Plauchu, Henri;
Chibon, Frédéric;
Faivre, Laurence;
Fain, Olivier;
Vabres, Pierre;
Bonnet, Françoise;
Selma, Zied Ben;
Laroche, Liliane;
Gérard, Marion;
Longy, Michel

Publication type:

Article

Linkage to chromosome 11p12 in two Maltese families with a highly penetrant form of osteoporosis.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 800, doi. 10.1038/sj.ejhg.5201814

By:

Vidal, Christopher;
Galea, Raymond;
Brincat, Mark;
Anastasi, Angela Xuereb

Publication type:

Article

Population screening and cascade testing for carriers of SMA.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 759, doi. 10.1038/sj.ejhg.5201821

By:

Smith, Melanie;
Calabro, Vanessa;
Chong, Belinda;
Gardiner, Nicole;
Cowie, Shannon;
du Sart, Desirée

Publication type:

Article

Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 774, doi. 10.1038/sj.ejhg.5201825

By:

Becker, Tim;
Jansen, Silke;
Tamm, Stephanie;
Wienker, Thomas F;
Tümmler, Burkhard;
Stanke, Frauke

Publication type:

Article

Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 791, doi. 10.1038/sj.ejhg.5201829

By:

Min, Josine L;
Meulenbelt, Ingrid;
Kloppenburg, Margreet;
van Duijn, Cornelia M;
Slagboom, P Eline

Publication type:

Article

Evidence for gene × smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 810, doi. 10.1038/sj.ejhg.5201830

By:

Dizier, Marie-Hélène;
Bouzigon, Emmanuelle;
Guilloud-Bataille, Michel;
Siroux, Valérie;
Lemainque, Arnaud;
Boland, Anne;
Lathrop, Mark;
Demenais, Florence

Publication type:

Article

Comment on Gellekink et al.

Published in:

2007

By:

Willis, Gavin

Publication type:

Letter

Transgenerational response to nutrition, early life circumstances and longevity.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 784, doi. 10.1038/sj.ejhg.5201832

By:

Kaati, Gunnar;
Bygren, Lars Olov;
Pembrey, Marcus;
Sjöström, Michael

Publication type:

Article

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831

By:

Hakonen, Anna H;
Davidzon, Guido;
Salemi, Renato;
Bindoff, Laurence A;
Van Goethem, Gert;
DiMauro, Salvatore;
Thorburn, David R;
Suomalainen, Anu

Publication type:

Article

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833

By:

Dauwerse, Johannes G;
de Vries, Bert B A;
Wouters, Cokkie H;
Bakker, Egbert;
Rappold, Gudrun;
Mortier, Geert R;
Breuning, Martijn H;
Peters, Dorien J M

Publication type:

Article

Mining the literature for relationships between genes.

Published in:

2007

By:

Oti, Martin

Publication type:

Book Review

Fanconi Anemia: Fanconi anemia, breast and embryonal cancer risk revisited.

Published in:

2007

By:

Howlett, Niall G

Publication type:

Letter

Significant variation in haplotype block structure but conservation in tagSNP patterns among global populations.

Published in:

2007

By:

Gu, Sheng;
Pakstis, Andrew J;
Li, Hui;
Speed, William C;
Kidd, Judith R;
Kidd, Kenneth K

Publication type:

Correction Notice

The clinical relevance of microsatellite alterations in head and neck squamous cell carcinoma: a critical review.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 734, doi. 10.1038/sj.ejhg.5201845

By:

De Schutter, Harlinde;
Spaepen, Marijke;
Mc Bride, William H;
Nuyts, Sandra

Publication type:

Article

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Published in:

2007

By:

Morava, Eva;
Zeevaert, Renate;
Korsch, Eckhard;
Huijben, Karin;
Wopereis, Suzan;
Matthijs, Gert;
Keymolen, Kathelijn;
Lefeber, Dirk J;
De Meirleir, Linda;
Wevers, Ron A

Publication type:

Correction Notice

The federated database – a basis for biobank-based post-genome studies, integrating phenome and genome data from 600 000 twin pairs in Europe.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 718, doi. 10.1038/sj.ejhg.5201850

By:

Muilu, Juha;
Peltonen, Leena;
Litton, Jan-Eric

Publication type:

Article

Marfan syndrome: clinical diagnosis and management.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 724, doi. 10.1038/sj.ejhg.5201851

By:

Dean, John C S

Publication type:

Article

Talking hypotheses.

Published in:

2007

By:

Müller-Myhsok, Bertram

Publication type:

Book Review