Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 5

Results: 30

Clinical utility gene card for: Biotinidase deficiency.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2012.28

By:

Küry, Sébastien;
Ramaekers, Vincent;
Bézieau, Stéphane;
Wolf, Barry

Publication type:

Article

Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 488, doi. 10.1038/ejhg.2011.190

By:

Li, Jinghui;
Liu, Hong;
Liu, Jian;
Fu, Xi'an;
Yu, Yongxiang;
Yu, Gongqi;
Chen, Shumin;
Chu, Tongsheng;
Lu, Nan;
Bao, Fangfang;
Yuan, Chunying;
Zhang, Furen

Publication type:

Article

Clinical utility gene card for: Werner syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.265

By:

Hisama, Fuki M;
Kubisch, Christian;
Martin, George M;
Oshima, Junko

Publication type:

Article

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.251

By:

Ramsden, Simon C;
Davidson, Alice E;
Leroy, Bart P;
Moore, Anthony T;
Webster, Andrew R;
Black, Graeme C M;
Manson, Forbes D C

Publication type:

Article

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 510, doi. 10.1038/ejhg.2011.241

By:

van Eeghen, Agnies M;
Black, Margaux E;
Pulsifer, Margaret B;
Kwiatkowski, David J;
Thiele, Elizabeth A

Publication type:

Article

Use of the gamma method for self-contained gene-set analysis of SNP data.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 565, doi. 10.1038/ejhg.2011.236

By:

Biernacka, Joanna M;
Jenkins, Gregory D;
Wang, Liewei;
Moyer, Ann M;
Fridley, Brooke L

Publication type:

Article

Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 498, doi. 10.1038/ejhg.2011.188

By:

Bombard, Yvonne;
Miller, Fiona A;
Hayeems, Robin Z;
Wilson, Brenda J;
Carroll, June C;
Paynter, Martha;
Little, Julian;
Allanson, Judith;
Bytautas, Jessica P;
Chakraborty, Pranesh

Publication type:

Article

Clinical utility gene card for: familial erythrocytosis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.252

By:

Hussein, Kais;
Percy, Melanie;
McMullin, Mary Frances

Publication type:

Article

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 588, doi. 10.1038/ejhg.2011.255

By:

Corcia, Philippe;
Ingre, Caroline;
Blasco, Helene;
Press, Rayomand;
Praline, Julien;
Antar, Catherine;
Veyrat-Durebex, Charlotte;
Guettard, Yves-Olivier;
Camu, William;
Andersen, Peter M;
Vourc'h, Patrick;
Andres, Christian R

Publication type:

Article

Direct-to-consumer genetic testing services: what are the medical benefits?

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 483, doi. 10.1038/ejhg.2011.229

By:

Frebourg, Thierry

Publication type:

Article

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 594, doi. 10.1038/ejhg.2012.32

By:

Tabet, Anne-Claude;
Pilorge, Marion;
Delorme, Richard;
Amsellem, Frédérique;
Pinard, Jean-Marc;
Leboyer, Marion;
Verloes, Alain;
Benzacken, Brigitte;
Betancur, Catalina

Publication type:

Article

Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 559, doi. 10.1038/ejhg.2011.245

By:

Gartland, Alison;
Skarratt, Kristen K;
Hocking, Lynne J;
Parsons, Claire;
Stokes, Leanne;
Jørgensen, Niklas Rye;
Fraser, William D;
Reid, David M;
Gallagher, James A;
Wiley, James S

Publication type:

Article

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 521, doi. 10.1038/ejhg.2011.246

By:

Wellesley, Diana;
Dolk, Helen;
Boyd, Patricia A;
Greenlees, Ruth;
Haeusler, Martin;
Nelen, Vera;
Garne, Ester;
Khoshnood, Babak;
Doray, Berenice;
Rissmann, Anke;
Mullaney, Carmel;
Calzolari, Elisa;
Bakker, Marian;
Salvador, Joaquin;
Addor, Marie-Claude;
Draper, Elizabeth;
Rankin, Judith;
Tucker, David

Publication type:

Article

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 534, doi. 10.1038/ejhg.2011.239

By:

Vergult, Sarah;
Dauber, Andrew;
Chiaie, Barbara Delle;
Van Oudenhove, Elke;
Simon, Marleen;
Rihani, Ali;
Loeys, Bart;
Hirschhorn, Joel;
Pfotenhauer, Jean;
Phillips, John A;
Mohammed, Shehla;
Ogilvie, Caroline;
Crolla, John;
Mortier, Geert;
Menten, Björn

Publication type:

Article

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 540, doi. 10.1038/ejhg.2011.244

By:

Tabet, Anne-Claude;
Pilorge, Marion;
Delorme, Richard;
Amsellem, Frédérique;
Pinard, Jean-Marc;
Leboyer, Marion;
Verloes, Alain;
Benzacken, Brigitte;
Betancur, Catalina

Publication type:

Article

Newborn screening for sickle cell disease: whose reproductive benefit?

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 484, doi. 10.1038/ejhg.2011.191

By:

Ross, Lainie Friedman

Publication type:

Article

Disease gene identification strategies for exome sequencing.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 490, doi. 10.1038/ejhg.2011.258

By:

Gilissen, Christian;
Hoischen, Alexander;
Brunner, Han G;
Veltman, Joris A

Publication type:

Article

Clinical utility gene card for: haemophilia B.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.268

By:

Jenkins, Peter Vincent;
Keenan, Catriona;
Keeney, Steve;
Cumming, Tony;
O'Donnell, James S

Publication type:

Article

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 584, doi. 10.1038/ejhg.2011.234

By:

Léger, Sandy;
Balguerie, Xavier;
Goldenberg, Alice;
Drouin-Garraud, Valérie;
Cabot, Annick;
Amstutz-Montadert, Isabelle;
Young, Paul;
Joly, Pascal;
Bodereau, Virginie;
Holder-Espinasse, Muriel;
Jamieson, Robyn V;
Krause, Amanda;
Chen, Hongsheng;
Baumann, Clarisse;
Nunes, Luis;
Dollfus, Hélène;
Goossens, Michel;
Pingault, Véronique

Publication type:

Article

Reply to Talseth-Palmer et al.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 488, doi. 10.1038/ejhg.2011.235

By:

Houlle, Solene;
Charbonnier, Françoise;
Houivet, Estelle;
Tinat, Julie;
Buisine, Marie-Pierre;
Caron, Olivier;
Benichou, Jacques;
Baert-Desurmont, Stéphanie;
Frebourg, Thierry

Publication type:

Article

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233

By:

Delahaye, Andrée;
Bitoun, Pierre;
Drunat, Séverine;
Gérard-Blanluet, Marion;
Chassaing, Nicolas;
Toutain, Annick;
Verloes, Alain;
Gatelais, Frédérique;
Legendre, Marie;
Faivre, Laurence;
Passemard, Sandrine;
Aboura, Azzedine;
Kaltenbach, Sophie;
Quentin, Samuel;
Dupont, Céline;
Tabet, Anne-Claude;
Amselem, Serge;
Elion, Jacques;
Gressens, Pierre;
Pipiras, Eva

Publication type:

Article

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 577, doi. 10.1038/ejhg.2011.226

By:

Harinck, Femme;
Kluijt, Irma;
van Mil, Saskia E;
Waisfisz, Quinten;
van Os, Theo AM;
Aalfs, Cora M;
Wagner, Anja;
Olderode-Berends, Maran;
Sijmons, Rolf H;
Kuipers, Ernst J;
Poley, Jan-Werner;
Fockens, Paul;
Bruno, Marco J

Publication type:

Article

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 552, doi. 10.1038/ejhg.2011.223

By:

Richards, Allan J;
McNinch, Annie;
Whittaker, Joanne;
Treacy, Becky;
Oakhill, Kim;
Poulson, Arabella;
Snead, Martin P

Publication type:

Article

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 580, doi. 10.1038/ejhg.2011.243

By:

Amouroux, Cyril;
Vincent, Marie;
Blanchet, Patricia;
Puechberty, Jacques;
Schneider, Anouck;
Chaze, Anne Marie;
Girard, Manon;
Tournaire, Magali;
Jorgensen, Christian;
Morin, Denis;
Sarda, Pierre;
Lefort, Geneviève;
Geneviève, David

Publication type:

Article

How to deal with the early GWAS data when imputing and combining different arrays is necessary.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 572, doi. 10.1038/ejhg.2011.231

By:

Uh, Hae-Won;
Deelen, Joris;
Beekman, Marian;
Helmer, Quinta;
Rivadeneira, Fernando;
Hottenga, Jouke-Jan;
Boomsma, Dorret I;
Hofman, Albert;
Uitterlinden, André G;
Slagboom, P E;
Böhringer, Stefan;
Houwing-Duistermaat, Jeanine J

Publication type:

Article

8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 487, doi. 10.1038/ejhg.2011.232

By:

Talseth-Palmer, Bente A;
Scott, Rodney J;
Vasen, Hans F A;
Wijnen, Juul T

Publication type:

Article

Reply to Ross' commentary: Reproductive benefit through newborn screening: preferences, policy and ethics.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 486, doi. 10.1038/ejhg.2012.25

By:

Bombard, Yvonne;
Miller, Fiona A

Publication type:

Article

Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 547, doi. 10.1038/ejhg.2011.224

By:

Heald, Brandie;
Edelman, Emily;
Eng, Charis

Publication type:

Article

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 505, doi. 10.1038/ejhg.2011.247

By:

Delatycki, Martin B;
Wolthuizen, Michelle;
Collins, Veronica;
Varley, Elizabeth;
Craven, Joanna;
Allen, Katrina J;
Gurrin, Lyle C;
Aitken, Maryanne;
Trembath, M Kaye;
Bond, Lyndal;
Wilson, Gabrielle R;
Stephenson, Sarah EM;
Macciocca, Ivan;
Hickerton, Chriselle;
Lockhart, Paul J;
Metcalfe, Sylvia A

Publication type:

Article

Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 516, doi. 10.1038/ejhg.2011.242

By:

Liu, Zhuo;
Wang, Zhigang;
Li, Yuanyuan;
Ouyang, Shengrong;
Chang, Huibo;
Zhang, Ting;
Zheng, Xiaoying;
Wu, Jianxin

Publication type:

Article