Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 4

Results: 24

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 421, doi. 10.1038/ejhg.2009.186

By:

Weterman, Marian A. J.;
van Ruissen, Fred;
de Wissel, Marit;
Bordewijk, Lou;
Samijn, Johnny P. A.;
van der Pol, W. Ludo;
Meggouh, Farid;
Baas, Frank

Publication type:

Article

Septo-optic dysplasia.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 393, doi. 10.1038/ejhg.2009.125

By:

Webb, Emma A.;
Dattani, Mehul T.

Publication type:

Article

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 448, doi. 10.1038/ejhg.2009.183

By:

Masny, Peter S.;
Chan, On Ying A.;
de Greef, Jessica C.;
Bengtsson, Ulla;
Ehrlich, Melanie;
Tawil, Rabi;
Lock, Leslie F.;
Hewitt, Jane E.;
Stocksdale, Jennifer;
Martin, Jorge H.;
van der Maarel, Silvere M.;
Winokur, Sara T.

Publication type:

Article

Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment.

Published in:

2010

By:

Fernández-Fernández, Francisco José

Publication type:

Letter

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 442, doi. 10.1038/ejhg.2009.161

By:

Hannan, Fadil M.;
Nesbit, M. Andrew;
Turner, Jeremy J. O.;
Stacey, Joanna M.;
Cianferotti, Luisella;
Christie, Paul T.;
Conigrave, Arthur D.;
Whyte, Michael P.;
Thakker, Rajesh V.

Publication type:

Article

Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 490, doi. 10.1038/ejhg.2009.182

By:

May, Linda;
van Bodegom, David;
Frölich, Marijke;
van Lieshout, Lisette;
Slagboom, P. Eline;
Westendorp, Rudi G. J.;
Kuningas, Maris

Publication type:

Article

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 407, doi. 10.1038/ejhg.2009.190

By:

Shahin, Hashem;
Walsh, Tom;
Rayyan, Amal Abu;
Lee, Ming K.;
Higgins, Jake;
Dickel, Diane;
Lewis, Kristen;
Thompson, James;
Baker, Carl;
Nord, Alex S.;
Stray, Sunday;
Gurwitz, David;
Avraham, Karen B.;
King, Mary-Claire;
Kanaan, Moien

Publication type:

Article

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 463, doi. 10.1038/ejhg.2009.172

By:

Pichler, Irene;
Fuchsberger, Christian;
Platzer, Christa;
Çalişkan, Minal;
Marroni, Fabio;
Pramstaller, Peter P.;
Ober, Carole

Publication type:

Article

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 479, doi. 10.1038/ejhg.2009.194

By:

Underhill, Peter A.;
Myres, Natalie M.;
Rootsi, Siiri;
Metspalu, Mait;
Zhivotovsky, Lev A.;
King, Roy J.;
Lin, Alice A.;
Chow, Cheryl-Emiliane T.;
Semino, Ornella;
Battaglia, Vincenza;
Kutuev, Ildus;
Järve, Mari;
Chaubey, Gyaneshwer;
Ayub, Qasim;
Mohyuddin, Aisha;
Mehdi, S. Qasim;
Sengupta, Sanghamitra;
Rogaev, Evgeny I.;
Khusnutdinova, Elza K.;
Pshenichnov, Andrey

Publication type:

Article

Genomic landscape of positive natural selection in Northern European populations.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 471, doi. 10.1038/ejhg.2009.184

By:

Lappalainen, Tuuli;
Salmela, Elina;
Andersen, Peter M.;
Dahlman-Wright, Karin;
Sistonen, Pertti;
Savontaus, Marja-Liisa;
Schreiber, Stefan;
Lahermo, Päivi;
Kere, Juha

Publication type:

Article

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 496, doi. 10.1038/ejhg.2009.185

By:

Sobrin, Lucia;
Maller, Julian B.;
Neale, Benjamin M.;
Reynolds, Robyn C.;
Fagerness, Jesen A.;
Daly, Mark J.;
Seddon, Johanna M.

Publication type:

Article

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192

By:

Willemsen, Marjolein H.;
Fernandez, Bridget A.;
Bacino, Carlos A.;
Gerkes, Erica;
de Brouwer, Arjan P. M.;
Pfundt, Rolph;
Sikkema-Raddatz, Birgit;
Scherer, Stephen W.;
Marshall, Christian R.;
Potocki, Lorraine;
van Bokhoven, Hans;
Kleefstra, Tjitske

Publication type:

Article

Ethical implications of the use of whole genome methods in medical research.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 398, doi. 10.1038/ejhg.2009.191

By:

Kaye, Jane;
Boddington, Paula;
de Vries, Jantina;
Hawkins, Naomi;
Melham, Karen

Publication type:

Article

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 502, doi. 10.1038/ejhg.2009.195

By:

Mero, Inger-Lise;
Lorentzen, Åslaug R.;
Ban, Maria;
Smestad, Cathrine;
Celius, Elisabeth G.;
Aarseth, Jan H.;
Myhr, Kjell-Morten;
Link, Jenny;
Hillert, Jan;
Olsson, Tomas;
Kockum, Ingrid;
Masterman, Thomas;
Oturai, Annette Bang;
Søndergaard, Helle Bach;
Sellebjerg, Finn;
Saarela, Janna;
Kemppinen, Anu;
Elovaara, Irina;
Spurkland, Anne;
Dudbridge, Frank

Publication type:

Article

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 414, doi. 10.1038/ejhg.2009.193

By:

Wouters, Vinciane;
Limaye, Nisha;
Uebelhoer, Melanie;
Irrthum, Alexandre;
Boon, Laurence M;
Mulliken, John B;
Enjolras, Odile;
Baselga, Eulalia;
Berg, Jonathan;
Dompmartin, Anne;
Ivarsson, Sten A.;
Kangesu, Loshan;
Lacassie, Yves;
Murphy, Jill;
Teebi, Ahmad S.;
Penington, Anthony;
Rieu, Paul;
Vikkula, Miikka

Publication type:

Article

High-throughput sequencing of microdissected chromosomal regions.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 457, doi. 10.1038/ejhg.2009.196

By:

Weise, Anja;
Timmermann, Bernd;
Grabherr, Manfred;
Werber, Martin;
Heyn, Patricia;
Kosyakova, Nadezda;
Liehr, Thomas;
Neitzel, Heidemarie;
Konrat, Kateryna;
Bommer, Christiane;
Dietrich, Carola;
Rajab, Anna;
Reinhardt, Richard;
Mundlos, Stefan;
Lindner, Tom H.;
Hoffmann, Katrin

Publication type:

Article

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 505, doi. 10.1038/ejhg.2009.198

By:

Burlet, Philippe;
Gigarel, Nadine;
Magen, Maryse;
Drunat, Séverine;
Benachi, Alexandra;
Hesters, Laetitia;
Munnich, Arnold;
Bonnefont, Jean-Paul;
Steffann, Julie

Publication type:

Article

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 436, doi. 10.1038/ejhg.2009.199

By:

Williams, Stephen R.;
Mullegama, Sureni V.;
Rosenfeld, Jill A.;
Dagli, Aditi I.;
Hatchwell, Eli;
Allen, William P.;
Williams, Charles A.;
Elsea, Sarah H.

Publication type:

Article

Reply to Fernández-Fernández.

Published in:

2010

By:

Shovlin, Claire L.;
Govani, Fatima S.

Publication type:

Letter

Hereditary haemorrhagic telangiectasia and genetic thrombophilia.

Published in:

2010

By:

Bianca, S.;
Cutuli, N.;
Bianca, M.;
Barrano, B.;
Cataliotti, A.;
Barone, C.;
Indaco, L.;
Milana, G.

Publication type:

Letter

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.

Published in:

2010

By:

Pichler, Irene;
Fuchsberger, Christian;
Platzer, Christa;
Çalişkan, Minal;
Marroni, Fabio;
Pramstaller, Peter P.;
Ober, Carole

Publication type:

Correction Notice

Reply to Bianca et al.

Published in:

2010

By:

Shovlin, Claire L.;
Govani, Fatima S.

Publication type:

Letter

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.

Published in:

2010

By:

Titze, Sabrina;
Peters, Hartmut;
Währisch, Sandra;
Harder, Thomas;
Guse, Katrin;
Buske, Annegret;
Tinschert, Sigrid;
Harder, Anja

Publication type:

Correction Notice

Evaluation of the discriminative accuracy of genomic profiling in the prediction of common complex diseases.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 485, doi. 10.1038/ejhg.2009.209

By:

Moonesinghe, Ramal;
Liu, Tiebin;
Khoury, Muin J.

Publication type:

Article