Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 1

Results: 25

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 4, doi. 10.1038/ejhg.2011.146

By:

Ormondroyd, Elizabeth;
Donnelly, Louise;
Moynihan, Clare;
Savona, Cornelie;
Bancroft, Elizabeth;
Evans, D Gareth;
Eeles, Rosalind;
Lavery, Stuart;
Watson, Maggie

Publication type:

Article

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 119, doi. 10.1038/ejhg.2011.140

By:

Boonen, Susanne E;
Hahnemann, Johanne M D;
Mackay, Deborah;
Tommerup, Niels;
Brøndum-Nielsen, Karen;
Tümer, Zeynep;
Grønskov, Karen

Publication type:

Article

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 33, doi. 10.1038/ejhg.2011.135

By:

Hammond, Peter;
Hannes, Femke;
Suttie, Michael;
Devriendt, Koen;
Vermeesch, Joris Robert;
Faravelli, Francesca;
Forzano, Francesca;
Parekh, Susan;
Williams, Steve;
McMullan, Dominic;
South, Sarah T;
Carey, John C;
Quarrell, Oliver

Publication type:

Article

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 122, doi. 10.1038/ejhg.2011.125

By:

Gray, Mary J;
Kim, Chong Ae;
Bertola, Debora Romeo;
Arantes, Paula Ricci;
Stewart, Helen;
Simpson, Michael A;
Irving, Melita D;
Robertson, Stephen P

Publication type:

Article

Coronary artery disease in Alström syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 117, doi. 10.1038/ejhg.2011.168

By:

Jatti, Kumar;
Paisey, Richard;
More, Ranjit

Publication type:

Article

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 27, doi. 10.1038/ejhg.2011.134

By:

Sugarman, Elaine A;
Nagan, Narasimhan;
Zhu, Hui;
Akmaev, Viatcheslav R;
Zhou, Zhaoqing;
Rohlfs, Elizabeth M;
Flynn, Kerry;
Hendrickson, Brant C;
Scholl, Thomas;
Sirko-Osadsa, Deborah Alexa;
Allitto, Bernice A

Publication type:

Article

No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration.

Published in:

2012

By:

Cipriani, Valentina;
Matharu, Baljinder K;
Khan, Jane C;
Shahid, Humma;
Hayward, Caroline;
Wright, Alan F;
Armbrecht, Ana Maria;
Dhillon, Baljean;
Harding, Simon P;
Bishop, Paul N;
Bunce, Catey;
Clayton, David G;
Moore, Anthony T;
Yates, John RW

Publication type:

Letter

A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 97, doi. 10.1038/ejhg.2011.156

By:

Becker, Jessica;
Wendland, Jens R;
Haenisch, Britta;
Nöthen, Markus M;
Schumacher, Johannes

Publication type:

Article

Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 41, doi. 10.1038/ejhg.2011.154

By:

Laffita-Mesa, José Miguel;
Velázquez-Pérez, Luis C;
Santos Falcón, Nieves;
Cruz-Mariño, Tania;
González Zaldívar, Yanetza;
Vázquez Mojena, Yaimee;
Almaguer-Gotay, Dennis;
Almaguer Mederos, Luis Enrique;
Rodríguez Labrada, Roberto

Publication type:

Article

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 58, doi. 10.1038/ejhg.2011.126

By:

Selmer, Kaja K;
Gilfillan, Gregor D;
Strømme, Petter;
Lyle, Robert;
Hughes, Timothy;
Hjorthaug, Hanne S;
Brandal, Kristin;
Nakken, Sigve;
Misceo, Doriana;
Egeland, Thore;
Munthe, Ludvig A;
Braekken, Sigrun K;
Undlien, Dag E

Publication type:

Article

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 69, doi. 10.1038/ejhg.2011.145

By:

Kerr, Bredford;
Soto C, Jessica;
Saez, Mauricio;
Abrams, Alexander;
Walz, Katherina;
Young, Juan I

Publication type:

Article

Brazilian urban population genetic structure reveals a high degree of admixture.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 111, doi. 10.1038/ejhg.2011.144

By:

Giolo, Suely R;
Soler, Júlia M P;
Greenway, Steven C;
Almeida, Marcio A A;
de Andrade, Mariza;
Seidman, J G;
Seidman, Christine E;
Krieger, José E;
Pereira, Alexandre C

Publication type:

Article

Natural positive selection and north-south genetic diversity in East Asia.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 102, doi. 10.1038/ejhg.2011.139

By:

Suo, Chen;
Xu, Haiyan;
Khor, Chiea-Chuen;
Ong, Rick TH;
Sim, Xueling;
Chen, Jieming;
Tay, Wan-Ting;
Sim, Kar-Seng;
Zeng, Yi-Xin;
Zhang, Xuejun;
Liu, Jianjun;
Tai, E-Shyong;
Wong, Tien-Yin;
Chia, Kee-Seng;
Teo, Yik-Ying

Publication type:

Article

A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 84, doi. 10.1038/ejhg.2011.148

By:

Gregersen, Noomi;
Dahl, Hans A;
Buttenschøn, Henriette N;
Nyegaard, Mette;
Hedemand, Anne;
Als, Thomas D;
Wang, August G;
Joensen, Sofus;
Woldbye, David PD;
Koefoed, Pernille;
Kristensen, Ann S;
Kruse, Torben A;
Børglum, Anders D;
Mors, Ole

Publication type:

Article

Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 77, doi. 10.1038/ejhg.2011.138

By:

Zaboli, Ghazal;
Ameur, Adam;
Igl, Wilmar;
Johansson, Åsa;
Hayward, Caroline;
Vitart, Veronique;
Campbell, Susan;
Zgaga, Lina;
Polasek, Ozren;
Schmitz, Gerd;
van Duijn, Cornelia;
Oostra, Ben;
Pramstaller, Peter;
Hicks, Andrew;
Meitinger, Tomas;
Rudan, Igor;
Wright, Alan;
Wilson, James F;
Campbell, Harry;
Gyllensten, Ulf

Publication type:

Article

Clinical utility gene card for: multiple endocrine neoplasia type 2.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.142

By:

Raue, Friedhelm;
Rondot, Susanne;
Schulze, Egbert;
Szpak-Ulczok, Sylwia;
Jarzab, Barbara;
Frank-Raue, Karin

Publication type:

Article

Clinical utility gene card for: Alveolar rhabdomyosarcoma.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.147

By:

Yu, Zhongxin;
Kelsey, Anna;
Alaggio, Rita;
Parham, David

Publication type:

Article

Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 20, doi. 10.1038/ejhg.2011.136

By:

Quarrell, Oliver W;
Handley, Olivia;
O'Donovan, Kirsty;
Dumoulin, Christine;
Ramos-Arroyo, Maria;
Biunno, Ida;
Bauer, Peter;
Kline, Margaret;
Landwehrmeyer, G Bernhard

Publication type:

Article

Clinical utility gene card for: Mucopolysaccharidosis type II.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.143

By:

Beck, Michael;
Wijburg, Frits A;
Gal, Andreas

Publication type:

Article

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 125, doi. 10.1038/ejhg.2011.210

By:

Benito-Sanz, Sara;
Aza-Carmona, Miriam;
Rodríguez-Estevez, Amaya;
Rica-Etxebarria, Ixaso;
Gracia, Ricardo;
Campos-Barros, Ángel;
Heath, Karen E

Publication type:

Article

Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer families.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 91, doi. 10.1038/ejhg.2011.149

By:

Saunders, Ian W;
Ross, Jason;
Macrae, Finlay;
Young, Graeme P;
Blanco, Ignacio;
Brohede, Jesper;
Brown, Glenn;
Brookes, Diana;
Lockett, Trevor;
Molloy, Peter L;
Moreno, Victor;
Capella, Gabriel;
Hannan, Garry N

Publication type:

Article

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 11, doi. 10.1038/ejhg.2011.141

By:

van Dijk, Fleur S;
Byers, Peter H;
Dalgleish, Raymond;
Malfait, Fransiska;
Maugeri, Alessandra;
Rohrbach, Marianne;
Symoens, Sofie;
Sistermans, Erik A;
Pals, Gerard

Publication type:

Article

C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 64, doi. 10.1038/ejhg.2011.151

By:

Humphries, Marian M;
Kenna, Paul F;
Campbell, Matthew;
Tam, Lawrence C S;
Nguyen, Anh T H;
Farrar, G Jane;
Botto, Marina;
Kiang, Anna Sophia;
Humphries, Peter

Publication type:

Article

Reply to Cipriani et al.

Published in:

2012

By:

Fagerness, Jesen A;
Yu, Yi;
Maller, Julian B;
Neale, Benjamin M;
Reynolds, Robyn C;
Daly, Mark J;
Seddon, Johanna M

Publication type:

Letter

Advances in Alport syndrome diagnosis using next-generation sequencing.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 50, doi. 10.1038/ejhg.2011.164

By:

Artuso, Rosangela;
Fallerini, Chiara;
Dosa, Laura;
Scionti, Francesca;
Clementi, Maurizio;
Garosi, Guido;
Massella, Laura;
Epistolato, Maria Carmela;
Mancini, Roberta;
Mari, Francesca;
Longo, Ilaria;
Ariani, Francesca;
Renieri, Alessandra;
Bruttini, Mirella

Publication type:

Article