Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 8

Results: 25

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 941, doi. 10.1038/ejhg.2008.21

By:

Girirajan, Santhosh;
Patel, Nisha;
Slager, Rebecca E;
Tokarz, Mary E;
Bucan, Maja;
Wiley, Jenny L;
Elsea, Sarah H

Publication type:

Article

Genomic Medicine: ‘Grand challenges’ in the translation of genomics to human health.

Published in:

2008

By:

Ginsburg, Geoffrey S

Publication type:

Editorial

Testing replication of a 5-SNP set for general cognitive ability in six population samples.

Published in:

2008

By:

Luciano, Michelle;
Lind, Penelope A;
Deary, Ian J;
Payton, Antony;
Posthuma, Danielle;
Butcher, Lee M;
Bochdanovits, Zoltan;
Whalley, Lawrence J;
Visscher, Peter M;
Harris, Sarah E;
Polderman, Tinca J C;
Davis, Oliver S P;
Wright, Margaret J;
Starr, John M;
de Geus, Eco J C;
Bates, Timothy C;
Montgomery, Grant W;
Boomsma, Dorret I;
Martin, Nicholas G;
Plomin, Robert

Publication type:

Correction Notice

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 961, doi. 10.1038/ejhg.2008.22

By:

Anttonen, Anna-Kaisa;
Siintola, Eija;
Tranebjaerg, Lisbeth;
Iwata, Nobue K;
Bijlsma, Emilia K;
Meguro, Hiroyuki;
Ichikawa, Yaeko;
Goto, Jun;
Kopra, Outi;
Lehesjoki, Anna-Elina

Publication type:

Article

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 897, doi. 10.1038/ejhg.2008.28

By:

Giorda, Roberto;
Bonaglia, M Clara;
Milani, Greta;
Baroncini, Anna;
Spada, Francesca;
Beri, Silvana;
Menozzi, Giorgia;
Rusconi, Marianna;
Zuffardi, Orsetta

Publication type:

Article

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 977, doi. 10.1038/ejhg.2008.33

By:

Skinningsrud, Beate;
Husebye, Eystein S;
Gervin, Kristina;
Løvås, Kristian;
Blomhoff, Anne;
Wolff, Anette B;
Kemp, E Helen;
Egeland, Thore;
Undlien, Dag E

Publication type:

Article

Uptake of testing for BRCA1/2 mutations in South East Scotland.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 906, doi. 10.1038/ejhg.2008.17

By:

Holloway, Susan M;
Bernhard, Birgitta;
Campbell, Harry;
Lam, Wayne W K

Publication type:

Article

Marco Fraccaro.

Published in:

2008

By:

Jacobs, Patricia A;
Robson, Bette

Publication type:

Obituary

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 913, doi. 10.1038/ejhg.2008.29

By:

Seneca, Sara;
Morris, Michael A;
Patton, Simon;
Elles, Rob;
Sequeiros, Jorge

Publication type:

Article

Influence of the cystathionine β-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1010, doi. 10.1038/ejhg.2008.69

By:

Summers, Carolyn M.;
Hammons, Andrea L.;
Mitchell, Laura E.;
Woodside, Jayne V.;
Yarnell, John W. G.;
Young, Ian S.;
Evans, Alun;
Whitehead, Alexander S.

Publication type:

Article

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 888, doi. 10.1038/ejhg.2008.30

By:

Pera, Alejandra;
Villamar, Manuela;
Viñuela, Antonio;
Gandía, Marta;
Medà, Carme;
Moreno, Felipe;
Hernández-Chico, Concepción

Publication type:

Article

Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 955, doi. 10.1038/ejhg.2008.27

By:

Abboud, Shérine;
Viiri, Leena E;
Lütjohann, Dieter;
Goebeler, Sirkka;
Luoto, Teemu;
Friedrichs, Silvia;
Desfontaines, Philippe;
Gazagnes, Marie-dominique;
Laloux, Patrice;
Peeters, André;
Seeldrayers, Pierrette;
Lehtimaki, Terho;
Karhunen, Pekka;
Pandolfo, Massimo;
Laaksonen, Reijo

Publication type:

Article

A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 970, doi. 10.1038/ejhg.2008.31

By:

Willaert, Andy;
Van Pottelbergh, Inge;
Zmierczak, Hans;
Goemaere, Stefan;
Kaufman, Jean-Marc;
De Paepe, Anne;
Coucke, Paul

Publication type:

Article

Unaffected patients with a homozygous absence of the SMN1 gene.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 930, doi. 10.1038/ejhg.2008.41

By:

Jędrzejowska, Maria;
Borkowska, Janina;
Zimowski, Janusz;
Kostera-Pruszczyk, Anna;
Milewski, Michał;
Jurek, Marta;
Sielska, Danuta;
Kostyk, Ewa;
Nyka, Walenty;
Zaremba, Jacek;
Hausmanowa-Petrusewicz, Irena

Publication type:

Article

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 921, doi. 10.1038/ejhg.2008.39

By:

Trip, Jeroen;
Drost, Gea;
Verbove, Dennis J;
van der Kooi, Anneke J;
Kuks, Jan B M;
Notermans, Nicolette C;
Verschuuren, Jan J;
de Visser, Marianne;
van Engelen, Baziel G M;
Faber, Carin G;
Ginjaar, Ieke B

Publication type:

Article

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

Published in:

2008

By:

Frank-Hansen, Rune;
Page, Stephen P;
Syrris, Petros;
McKenna, William J;
Christiansen, Michael;
Andersen, Paal Skytt

Publication type:

Correction Notice

Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1002, doi. 10.1038/ejhg.2008.40

By:

Vasilopoulos, Yiannis;
Walters, Kevin;
Cork, Michael J;
Duff, Gordon W;
Sagoo, Gurdeep S;
Tazi-Ahnini, Rachid

Publication type:

Article

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34

By:

Kroos, Marian A;
Mullaart, Reinier A;
Van Vliet, Laura;
Pomponio, Robert J;
Amartino, Hernan;
Kolodny, Edwin H;
Pastores, Gregory M;
Wevers, Ron A;
Van der Ploeg, Ans T;
Halley, Dicky J J;
Reuser, Arnold J J

Publication type:

Article

Testing informative missingness in genetic studies using case–parent triads.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 992, doi. 10.1038/ejhg.2008.38

By:

Guo, Chao-Yu;
Cupples, Laura Adrienne;
Yang, Qiong

Publication type:

Article

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1014, doi. 10.1038/ejhg.2008.89

By:

Béri-Dexheimer, Mylène;
Latger-Cannard, Véronique;
Philippe, Christophe;
Bonnet, Céline;
Chambon, Pascal;
Roth, Virginie;
Grégoire, Marie-José;
Bordigoni, Pierre;
Lecompte, Thomas;
Leheup, Bruno;
Jonveaux, Philippe

Publication type:

Article

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 880, doi. 10.1038/ejhg.2008.42

By:

Torniero, Claudia;
Dalla Bernardina, Bernardo;
Novara, Francesca;
Cerini, Roberto;
Bonaglia, Clara;
Pramparo, Tiziano;
Ciccone, Roberto;
Guerrini, Renzo;
Zuffardi, Orsetta

Publication type:

Article

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 983, doi. 10.1038/ejhg.2008.43

By:

Siltanen, Sanna;
Syrjäkoski, Kirsi;
Fagerholm, Rainer;
Ikonen, Tarja;
Lipman, Peter;
Mallott, Jacob;
Holli, Kaija;
Tammela, Teuvo L J;
Järvinen, Heikki J;
Mecklin, Jukka-Pekka;
Aittomäki, Kristiina;
Blomqvist, Carl;
Bailey-Wilson, Joan E;
Nevanlinna, Heli;
Aaltonen, Lauri A;
Schleutker, Johanna;
Vahteristo, Pia

Publication type:

Article

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 935, doi. 10.1038/ejhg.2008.47

By:

Duno, Morten;
Sveen, Marie-Louise;
Schwartz, Marianne;
Vissing, John

Publication type:

Article

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1019, doi. 10.1038/ejhg.2008.90

By:

Hosoki, Kana;
Ogata, Tsutomu;
Kagami, Masayo;
Tanaka, Touju;
Saitoh, Shinji

Publication type:

Article

Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.

Published in:

2008

By:

de Snoo, Femke A;
Hottenga, Jouke-Jan;
Gillanders, Elizabeth M;
Sandkuijl, Lodewijk A;
Jones, Mary Pat;
Bergman, Wilma;
van der Drift, Clasine;
van Leeuwen, Inge;
van Mourik, Leny;
Huurne, Jeanet A C ter;
Frants, Rune R;
Willemze, Rein;
Breuning, Martijn H;
Trent, Jeffrey M;
Gruis, Nelleke A

Publication type:

Correction Notice