Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 2

Results: 25

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 137, doi. 10.1038/ejhg.2009.103

By:

Gazzerro, Elisabetta;
Sotgia, Federica;
Bruno, Claudio;
Lisanti, Michael P.;
Minetti, Carlo

Publication type:

Article

An integrated phenomic approach to multivariate allelic association.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 233, doi. 10.1038/ejhg.2009.133

By:

Medland, Sarah Elizabeth;
Neale, Michael Churton

Publication type:

Article

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 157, doi. 10.1038/ejhg.2009.139

By:

Fullston, Tod;
Brueton, Louise;
Willis, Tracey;
Philip, Sunny;
MacPherson, Lesley;
Finnis, Merran;
Gecz, Jozef;
Morton, Jenny

Publication type:

Article

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 212, doi. 10.1038/ejhg.2009.140

By:

Sanz, Javier;
von Känel, Thomas;
Schneider, Mircea;
Steiner, Bernhard;
Schaller, André;
Gallati, Sabina

Publication type:

Article

Association of the TGF-β receptor genes with abdominal aortic aneurysm.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 240, doi. 10.1038/ejhg.2009.141

By:

Baas, A. F.;
Medic, J.;
van 't Slot, R.;
de Kovel, C. G.;
Zhernakova, A.;
Geelkerken, R. H.;
Kranendonk, S. E.;
van Sterkenburg, S. M.;
Grobbee, D. E.;
Boll, A. P.;
Wijmenga, C.;
Blankensteijn, J. D.;
Ruigrok, Y. M.

Publication type:

Article

A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 245, doi. 10.1038/ejhg.2009.142

By:

Briggs, Christine E.;
Chao-Yu Guo;
Schoettler, Cynthia;
Rosoklija, Ilina;
Silva, Andres;
Bauer, Stuart B.;
Retik, Alan B.;
Kunkel, Louis;
Nguyen, Hiep T.

Publication type:

Article

Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 194, doi. 10.1038/ejhg.2009.143

By:

Kaidonis, Xenia;
Wan Chin Liaw;
Roberts, Ainslie Derrick;
Ly, Marleesa;
Anson, Donald;
Byers, Sharon

Publication type:

Article

Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 200, doi. 10.1038/ejhg.2009.144

By:

Dziedzic, Dariusz;
Węgrzyn, Grzegorz;
Jakóbkiewicz-Banecka, Joanna

Publication type:

Article

Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 251, doi. 10.1038/ejhg.2009.145

By:

Christiaans, Imke;
Kok, Tjitske M.;
van Langen, Irene M.;
Birnie, Erwin;
Bonsel, Gouke J.;
Wilde, Arthur A. M.;
Smets, Ellen M. A.

Publication type:

Article

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 206, doi. 10.1038/ejhg.2009.148

By:

Vegt, Rinus;
Bertoli-Avella, Aida M.;
Tulen, Joke H. M.;
de Graaf, Bianca;
Verkerk, Annemieke J. M. H.;
Vervoort, Jeroen;
Twigt, Carla M.;
Maat-Kievit, Anneke;
van Tuijl, Ruud;
van der Lijn, Marieke;
Hengeveld, Michiel W.;
Oostra, Ben A.

Publication type:

Article

Migrations are of all times.

Published in:

2010

By:

Roels, Frank

Publication type:

Book Review

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 186, doi. 10.1038/ejhg.2009.151

By:

Douma, Kirsten F. L.;
Aaronson, Neil K.;
Vasen, Hans F. A.;
Verhoef, Senno;
Gundy, Chad M.;
Bleiker, Eveline M. A.

Publication type:

Article

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 163, doi. 10.1038/ejhg.2009.152

By:

van Bon, Bregje W. M.;
Koolen, David A.;
Brueton, Louise;
McMullan, Dominic;
Lichtenbelt, Klaske D.;
Adès, Lesley C.;
Peters, Gregory;
Gibson, Kate;
Novara, Francesca;
Pramparo, Tiziano;
Bernardina, Bernardo Dalla;
Zoccante, Leonardo;
Balottin, Umberto;
Piazza, Fausta;
Pecile, Vanna;
Gasparini, Paolo;
Guerci, Veronica;
Kets, Marleen;
Pfundt, Rolph;
de Brouwer, Arjan P.

Publication type:

Article

Reply to Camprubí et al.

Published in:

2010

By:

Cassidy, Suzanne B.;
Driscoll, Daniel J.

Publication type:

Letter

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 178, doi. 10.1038/ejhg.2009.154

By:

Bernardini, Laura;
Alesi, Viola;
Loddo, Sara;
Novelli, Antonio;
Bottillo, Irene;
Battaglia, Agatino;
Digilio, Maria Cristina;
Zampino, Giuseppe;
Ertel, Adam;
Fortina, Paolo;
Surrey, Saul;
Dallapiccola, Bruno

Publication type:

Article

Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 254, doi. 10.1038/ejhg.2009.156

By:

Brix, Thomas Heiberg;
Hansen, Pia Skov;
kyvik, Kirsten Ohm;
Hegedüs, Laszlo

Publication type:

Article

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 171, doi. 10.1038/ejhg.2009.158

By:

Bergman, Jorieke E. H.;
Bosman, Erika A.;
van Ravenswaaij-Arts, Conny M. A.;
Steel, Karen P.

Publication type:

Article

Progress in therapeutic antisense applications for neuromuscular disorders.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 146, doi. 10.1038/ejhg.2009.160

By:

Aartsma-Rus, Annemieke;
van Ommen, Gert-Jan B.

Publication type:

Article

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162

By:

Malan, Valérie;
Chevallier, Suzanne;
Soler, Gwendoline;
Coubes, Christine;
Lacombe, Didier;
Pasquier, Laurent;
Soulier, Jean;
Morichon-Delvallez, Nicole;
Turleau, Catherine;
Munnich, Arnold;
Romana, Serge;
Vekemans, Michel;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 258, doi. 10.1038/ejhg.2009.164

By:

Franco, Luis M.;
de Ravel, Thomy;
Graham, Brett H.;
Frenkel, Stephanie M.;
Van Driessche, Jozef;
Stankiewicz, Pawel;
Lupski, James R.;
Vermeesch, Joris R.;
Sau Wai Cheung

Publication type:

Article

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 218, doi. 10.1038/ejhg.2009.165

By:

Muiños-Gimeno, Margarita;
Montfort, Magda;
Bayés, Mònica;
Estivill, Xavier;
Espinosa-Parrilla, Yolanda

Publication type:

Article

Prader–Willi and Angelman syndromes: genetic counseling.

Published in:

2010

By:

Camprubí, Cristina;
Coll, Maria Dolors;
Gabau, Elisabeth;
Guitart, Míriam

Publication type:

Letter

Long time no see: the Type and Contre-type concept.

Published in:

2010

By:

Neri, Giovanni;
Di Raimo, Francesca Romana

Publication type:

Opinion

Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Published in:

2010

By:

van Bon, Bregje W. M.;
Koolen, David A.;
Brueton, Louise;
McMullan, Dominic;
Lichtenbelt, Klaske D.;
Adès, Lesley C.;
Peters, Gregory;
Gibson, Kate;
Novara, Francesca;
Pramparo, Tiziano;
Bernardina, Bernardo Dalla;
Zoccante, Leonardo;
Balottin, Umberto;
Piazza, Fausta;
Pecile, Vanna;
Gasparini, Paolo;
Guerci, Veronica;
Kets, Marleen;
Pfundt, Rolph;
de Brouwer, Arjan P.

Publication type:

Correction Notice

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Published in:

2010

By:

Sun, Chen;
Tranebjærg, Lisbeth;
Torbergsen, Torberg;
Holmgren, Gösta;
Van Ghelue, Marijke

Publication type:

Correction Notice