Works matching IS 10184813 AND DT 2010 AND VI 18

Results: 263

Confirmation of association between multiple sclerosis and CYP27B1.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1349, doi. 10.1038/ejhg.2010.113

By:

Sundqvist, Emilie;
Bäärnhielm, Maria;
Alfredsson, Lars;
Hillert, Jan;
Olsson, Tomas;
Kockum, Ingrid

Publication type:

Article

Genetic variability at the PARK16 locus.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1356, doi. 10.1038/ejhg.2010.125

By:

Tucci, Arianna;
Nalls, Mike A.;
Houlden, Henry;
Revesz, Tamas;
Singleton, Andrew B.;
Wood, Nicholas W.;
Hardy, John;
Paisán-Ruiz, Coro

Publication type:

Article

A standardized framework for the validation and verification of clinical molecular genetic tests.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1276, doi. 10.1038/ejhg.2010.101

By:

Mattocks, Christopher J.;
Morris, Michael A.;
Matthijs, Gert;
Swinnen, Elfriede;
Corveleyn, Anniek;
Dequeker, Els;
Müller, Clemens R.;
Pratt, Victoria;
Wallace, Andrew

Publication type:

Article

NordicDB: a Nordic pool and portal for genome-wide control data.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1322, doi. 10.1038/ejhg.2010.112

By:

Leu, Monica;
Humphreys, Keith;
Surakka, Ida;
Rehnberg, Emil;
Juha Muilu;
Rosenström, Päivi;
Almgren, Peter;
Jääskeläinen, Juha;
Lifton, Richard P.;
Kyvik, Kirsten Ohm;
Kaprio, Jaakko;
Pedersen, Nancy L.;
Palotie, Aarno;
Hall, Per;
Grönberg, Henrik;
Groop, Leif;
Peltonen, Leena;
Palmgren, Juni;
Ripatti, Samuli

Publication type:

Article

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1236, doi. 10.1038/ejhg.2010.94

By:

Marques-Pinheiro, Alice;
Marduel, Marie;
Rabès, Jean-Pierre;
Devillers, Martine;
Villéger, Ludovic;
Allard, Delphine;
Weissenbach, Jean;
Guerin, Maryse;
Zair, Yassine;
Erlich, Danièle;
Junien, Claudine;
Munnich, Arnold;
Krempf, Michel;
Abifadel, Marianne;
Jaïs, Jean-Philippe;
Boileau, Catherine;
Varret, Mathilde

Publication type:

Article

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1310, doi. 10.1038/ejhg.2010.116

By:

Kantaputra, Piranit N.;
Klopocki, Eva;
Hennig, Bianca P.;
Praphanphoj, Verayuth;
Le Caignec, Cédric;
Isidor, Bertrand;
Kwee, Mei L.;
Shears, Deborah J.;
Mundlos, Stefan

Publication type:

Article

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1302, doi. 10.1038/ejhg.2010.115

By:

Bonaglia, Maria C.;
Marelli, Susan;
Novara, Francesca;
Commodaro, Simona;
Borgatti, Renato;
Minardo, Grazia;
Memo, Luigi;
Mangold, Elisabeth;
Beri, Silvana;
Zucca, Claudio;
Brambilla, Daniele;
Molteni, Massimo;
Giorda, Roberto;
Weber, Ruthild G.;
Zuffardi, Orsetta

Publication type:

Article

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118

By:

García-Villoria, Judit;
Gort, Laura;
Madrigal, Irene;
Fons, Carme;
Fernández, Cristina;
Navarro-Sastre, Aleix;
Milà, Montserrat;
Briones, Paz;
García-Cazorla, Angeles;
Campistol, Jaume;
Ribes, Antonia

Publication type:

Article

Comparing family members' motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1289, doi. 10.1038/ejhg.2010.114

By:

Dancyger, Caroline;
Smith, Jonathan A.;
Jacobs, Chris;
Wallace, Melissa;
Michie, Susan

Publication type:

Article

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1360, doi. 10.1038/ejhg.2010.126

By:

Cacciagli, Pierre;
Haddad, Marie-Reine;
Mignon-Ravix, Cécile;
El-Waly, Bilal;
Moncla, Anne;
Missirian, Chantal;
Chabrol, Brigitte;
Villard, Laurent

Publication type:

Article

FGF21 signalling pathway and metabolic traits - genetic association analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1344, doi. 10.1038/ejhg.2010.130

By:

Kaess, Bernhard M.;
Barnes, Timothy A.;
Stark, Klaus;
Charchar, Fadi J.;
Waterworth, Dawn;
Kijoung Song;
Wang, William Y. S.;
Vollenweider, Peter;
Waeber, Gerard;
Mooser, Vincent;
Zukowska-Szczechowska, Ewa;
Samani, Nilesh J.;
Hengstenberg, Christian;
Tomaszewski, Maciej

Publication type:

Article

Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1271, doi. 10.1038/ejhg.2010.129

By:

Borry, P.

Publication type:

Article

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1216, doi. 10.1038/ejhg.2010.96

By:

Carr, Christopher W.;
Moreno-De-Luca, Daniel;
Parker, Colette;
Zimmerman, Holly H.;
Ledbetter, Nikki;
Martin, Christa Lese;
Dobyns, William B.;
Abdul-Rahman, Omar A.

Publication type:

Article

FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1339, doi. 10.1038/ejhg.2010.131

By:

Scott, Robert A.;
Bailey, Mark E. S.;
Moran, Colin N.;
Wilson, Richard H.;
Fuku, Noriyuki;
Tanaka, Masashi;
Tsiokanos, Athanasios;
Jamurtas, Athanasios Z.;
Grammatikaki, Evangelia;
Moschonis, George;
Manios, Yannis;
Pitsiladis, Yannis P.

Publication type:

Article

Reply to Dlouha et al.

Published in:

2010

By:

Tönjes, Anke;
Kovacs, Peter;
Elliott, Katherine;
Zeggini, Eleftheria;
McCarthy, Mark I.;
Stumvoll, Michael

Publication type:

Letter

Genetic male infertility and mutation of CATSPER ion channels.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1178, doi. 10.1038/ejhg.2010.108

By:

Hildebrand, Michael S.;
Avenarius, Matthew R.;
Fellous, Marc;
Yuzhou Zhang;
Meyer, Nicole C.;
Auer, Jana;
Serres, Catherine;
Kahrizi, Kimia;
Najmabadi, Hossein;
Beckmann, Jacques S.;
Smith, Richard J. H.

Publication type:

Article

5q11.2 deletion in a patient with tracheal agenesis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1265, doi. 10.1038/ejhg.2010.84

By:

de Jong, Elisabeth M.;
Douben, Hannie;
Eussen, Bert H.;
Felix, Janine F.;
Wessels, Marja W.;
Poddighe, Pino J.;
Nikkels, Peter G. J.;
de Krijger, Ronald R.;
Tibboel, Dick;
de Klein, Annelies

Publication type:

Article

Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1209, doi. 10.1038/ejhg.2010.91

By:

Summers, Kim M.;
Raza, Sobia;
van Nimwegen, Erik;
Freeman, Thomas C.;
Hume, David A.

Publication type:

Article

Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1327, doi. 10.1038/ejhg.2010.111

By:

Reisinger, Ellen;
Meintrup, David;
Oliver, Dominik;
Fakler, Bernd

Publication type:

Article

The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1296, doi. 10.1038/ejhg.2010.119

By:

Ashida, Sato;
Koehly, Laura M.;
Roberts, J. Scott;
Chen, Clara A.;
Hiraki, Susan;
Green, Robert C.

Publication type:

Article

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1315, doi. 10.1038/ejhg.2010.105

By:

Meienberg, Janine;
Rohrbach, Marianne;
Neuenschwander, Stefan;
Spanaus, Katharina;
Giunta, Cecilia;
Alonso, Sira;
Arnold, Eliane;
Henggeler, Caroline;
Regenass, Stephan;
Patrignani, Andrea;
Azzarello-Burri, Silvia;
Steiner, Bernhard;
Nygren, Anders O. H.;
Carrel, Thierry;
Steinmann, Beat;
Mátyás, Gábor

Publication type:

Article

Lack of association between a new tag SNP in the FTO gene and BMI in Czech-Slavonic population.

Published in:

2010

By:

Dlouha, Dana;
Adamkova, Vera;
Lanska, Vera;
Hubacek, Jaroslav A

Publication type:

Letter

Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1333, doi. 10.1038/ejhg.2010.117

By:

Boccardi, Virginia;
Ambrosino, Immacolata;
Papa, Michela;
Fiore, Daniela;
Rizzo, Maria Rosaria;
Paolisso, Giuseppe;
Barbieri, Michelangela

Publication type:

Article

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1202, doi. 10.1038/ejhg.2010.107

By:

Keller, Lina;
Welander, Hedvig;
Huei-Hsin Chiang;
Tjernberg, Lars O.;
Nennesmo, Inger;
Wallin, Åsa K.;
Graff, Caroline

Publication type:

Article

Population structure and genome-wide patterns of variation in Ireland and Britain.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1248, doi. 10.1038/ejhg.2010.87

By:

O'Dushlaine, Colm T.;
Morris, Derek;
Moskvina, Valentina;
Kirov, George;
Gill, Michael;
Corvin, Aiden;
Wilson, James F.;
Cavalleri, Gianpiero L.

Publication type:

Article

Dengue hemorrhagic fever is associated with polymorphisms in JAK1.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1221, doi. 10.1038/ejhg.2010.98

By:

Silva, Luciano K.;
Blanton, Ronald E.;
Parrado, Antonio R.;
Melo, Paulo S.;
Morato, Vanessa G.;
Reis, Eliana A. G.;
Dias, Juarez P.;
Castro, Jesuina M.;
Vasconcelos, Pedro F. C.;
Goddard, Katrina A. B.;
Barreto, Maurício L.;
Reis, Mitermayer G.;
Teixeira, M. Glória

Publication type:

Article

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102

By:

Duker, Angela L.;
Ballif, Blake C.;
Bawle, Erawati V.;
Person, Richard E.;
Mahadevan, Sangeetha;
Alliman, Sarah;
Thompson, Regina;
Traylor, Ryan;
Bejjani, Bassem A.;
Shaffer, Lisa G.;
Rosenfeld, Jill A.;
Lamb, Allen N.;
Sahoo, Trilochan

Publication type:

Article

Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

Published in:: 2010
Publication type:: Correction Notice

Chadic languages and Y haplogroups.

Published in:

2010

By:

Lancaster, Andrew

Publication type:

Letter

Genes predict village of origin in rural Europe.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1269, doi. 10.1038/ejhg.2010.92

By:

O'Dushlaine, Colm;
McQuillan, Ruth;
Weale, Michael E.;
Crouch, Daniel J. M.;
Johansson, Åsa;
Aulchenko, Yurii;
Franklin, Christopher S.;
Pola&;#x0161;ek, Ozren;
Fuchsberger, Christian;
Corvin, Aiden;
Hicks, Andrew A.;
Vitart, Veronique;
Hayward, Caroline;
Wild, Sarah H.;
Meitinger, Thomas;
van Duijn, Cornelia M.;
Gyllensten, Ulf;
Wright, Alan F.;
Campbell, Harry;
Pramstaller, Peter P.

Publication type:

Article

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1228, doi. 10.1038/ejhg.2010.95

By:

Low, Daren;
Ken-Shiung Chen

Publication type:

Article

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1188, doi. 10.1038/ejhg.2010.10

By:

Sequeiros, Jorge;
Seneca, Sara;
Martindale, Joanne

Publication type:

Article

Reply to Lancaster.

Published in:

2010

By:

Cruciani, Fulvio;
Trombetta, Beniamino;
Sellitto, Daniele;
Massaia, Andrea;
Destro-Bisol, Giovanni;
Watson, Elizabeth;
Colomb, Eliane Beraud;
Dugoujon, Jean-Michel;
Moral, Pedro;
Scozzari, Rosaria

Publication type:

Letter

Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1243, doi. 10.1038/ejhg.2010.97

By:

Cummings, Nik;
Dyer, Thomas D.;
Kotea, Navaratnam;
Kowlessur, Sudhir;
Chitson, Pierrot;
Zimmet, Paul;
Blangero, John;
Jowett, Jeremy B. M.

Publication type:

Article

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1173, doi. 10.1038/ejhg.2010.8

By:

Sequeiros, Jorge;
Martindale, Joanne;
Seneca, Sara

Publication type:

Article

Hypothetical and factual willingness to participate in biobank research.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1261, doi. 10.1038/ejhg.2010.106

By:

Johnsson, Linus;
Helgesson, Gert;
Rafnar, Thorunn;
Halldorsdottir, Ingibjorg;
Kee-Seng Chia;
Eriksson, Stefan;
Hansson, Mats G.

Publication type:

Article

A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1255, doi. 10.1038/ejhg.2010.93

By:

Chao Qiang Jiang;
Bin Liu;
Cheung, Bernard M. Y.;
Tai Hing Lam;
Jie Ming Lin;
Ya Li Jin;
Xiao Jun Yue;
Kwok Leung Ong;
Tam, Sidney;
Ka Sing Wong;
Tomlinson, Brian;
Lam, Karen S. L.;
Thomas, G. Neil

Publication type:

Article

The medical geneticist as expert in the transgenerational and developmental aspects of diseases.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1075, doi. 10.1038/ejhg.2010.100

By:

Kosztolányi, György;
Cassiman, Jean-Jacques

Publication type:

Article

A qualitative study exploring genetic counsellors' experiences of counselling children.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1090, doi. 10.1038/ejhg.2010.86

By:

Ulph, Fiona;
Leong, James;
Glazebrook, Cris;
Townsend, Ellen

Publication type:

Article

Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1141, doi. 10.1038/ejhg.2010.49

By:

FitzGerald, Liesel M.;
McDonnell, Shannon K.;
Carlson, Erin E.;
Langeberg, Wendy;
McIntosh, Laura M.;
Deutsch, Kerry;
Ostrander, Elaine A.;
Schaid, Daniel J.;
Stanford, Janet L.

Publication type:

Article

A powerful score test to detect positive selection in genome-wide scans.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1148, doi. 10.1038/ejhg.2010.60

By:

Ming Zhong;
Lange, Kenneth;
Papp, Jeanette C.;
Ruzong Fan

Publication type:

Article

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1166, doi. 10.1038/ejhg.2010.80

By:

de Becdelièvre, Alix;
Costa, Catherine;
LeFloch, Annick;
Legendre, Marie;
Jouannic, Jean-Marie;
Vigneron, Jacqueline;
Bresson, Jean-Luc;
Gobin, Stéphanie;
Martin, Josiane;
Goossens, Michel;
Girodon, Emmanuelle

Publication type:

Article

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;
Moloney, Susan;
Novara, Francesca;
Pramparo, Tiziano;
Bernardina, Bernardo Dalla;
Zoccante, Leonardo;
Balottin, Umberto;
Piazza, Fausta;
Pecile, Vanna;
Gasparini, Paolo;
Guerci, Veronica;
Kets, Marleen;
Pfundt, Rolph

Publication type:

Correction Notice

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1100, doi. 10.1038/ejhg.2010.79

By:

Morris-Rosendahl, Deborah J.;
Segel, Reeval;
Born, A. Peter;
Conrad, Christoph;
Loeys, Bart;
Brooks, Susan Sklower;
Müller, Laura;
Zeschnigk, Christine;
Botti, Christina;
Rabinowitz, Ron;
Uyanik, Gökhan;
Crocq, Marc-Antoine;
Kraus, Uwe;
Degen, Ingrid;
Faes, Fran

Publication type:

Article

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1095, doi. 10.1038/ejhg.2010.41

By:

Whibley, Annabel;
Urquhart, Jill;
Dore, Jonathan;
Willatt, Lionel;
Parkin, Georgina;
Gaunt, Lorraine;
Black, Graeme;
Donnai, Dian;
Raymond, F. Lucy

Publication type:

Article

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1084, doi. 10.1038/ejhg.2010.78

By:

McClaren, Belinda J.;
Metcalfe, Sylvia A.;
Aitken, MaryAnne;
Massie, R. John;
Ukoumunne, Obioha C.;
Amor, David J.

Publication type:

Article

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82

By:

Nicolas, Elsa;
Poitelon, Yannick;
Chouery, Eliane;
Salem, Nabiha;
Levy, Nicolas;
Mégarbané, André;
Delague, Valérie

Publication type:

Article

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1121, doi. 10.1038/ejhg.2010.81

By:

Iseri, Sibel A. Ugur;
Durlu, Yusuf K.;
Tolun, Aslihan

Publication type:

Article

A screening methodology based on Random Forests to improve the detection of gene-gene interactions.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1127, doi. 10.1038/ejhg.2010.48

By:

De Lobel, Lizzy;
Geurts, Pierre;
Baele, Guy;
Castro-Giner, Francesc;
Kogevinas, Manolis;
Van Steen, Kristel

Publication type:

Article

Genomic profile of copy number variants on the short arm of human chromosome 8.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1114, doi. 10.1038/ejhg.2010.66

By:

Shihui Yu;
Fiedler, Stephanie;
Stegner, Andrew;
Graf, William D.

Publication type:

Article