Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 10

Results: 17

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1018, doi. 10.1038/ejhg.2012.53

By:

Geelen, Els;
Horstman, Klasien;
Marcelis, Carlo LM;
Doevendans, Pieter A;
Van Hoyweghen, Ine

Publication type:

Article

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1096, doi. 10.1038/ejhg.2012.51

By:

Ishmukhametova, Aliya;
Van Kien, Philippe Khau;
Méchin, Déborah;
Thorel, Delphine;
Vincent, Marie-Claire;
Rivier, François;
Coubes, Christine;
Humbertclaude, Véronique;
Claustres, Mireille;
Tuffery-Giraud, Sylvie

Publication type:

Article

The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1071, doi. 10.1038/ejhg.2012.48

By:

Kolder, Iris CRM;
Michels, Michelle;
Christiaans, Imke;
Ten Cate, Folkert J;
Majoor-Krakauer, Danielle;
Danser, Alexander HJ;
Lekanne Deprez, Robert H;
Tanck, Michael WT;
Wilde, Arthur AM;
Bezzina, Connie R;
Dooijes, Dennis

Publication type:

Article

Lactose malabsorption is a risk factor for decreased bone mineral density in pancreatic insufficient cystic fibrosis patients.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1092, doi. 10.1038/ejhg.2012.52

By:

Mądry, Edyta;
Krasińska, Beata;
Drzymała-Czyż, Sławomira;
Sands, Dorota;
Lisowska, Aleksandra;
Grebowiec, Philip;
Minarowska, Alina;
Oralewska, Beata;
Mańkowski, Przemyslaw;
Moczko, Jerzy;
Walkowiak, Jarosław

Publication type:

Article

Afghanistan from a Y-chromosome perspective.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1063, doi. 10.1038/ejhg.2012.59

By:

Lacau, Harlette;
Gayden, Tenzin;
Regueiro, Maria;
Chennakrishnaiah, Shilpa;
Bukhari, Areej;
Underhill, Peter A;
Garcia-Bertrand, Ralph L;
Herrera, Rene J

Publication type:

Article

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1, doi. 10.1038/ejhg.2012.91

By:

Biancalana, Valérie;
Beggs, Alan H;
Das, Soma;
Jungbluth, Heinz;
Kress, Wolfram;
Nishino, Ichizo;
North, Kathryn;
Romero, Norma B;
Laporte, Jocelyn

Publication type:

Article

Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1078, doi. 10.1038/ejhg.2012.47

By:

Webb, Bradley T;
Guo, An-Yuan;
Maher, Brion S;
Zhao, Zhongming;
van den Oord, Edwin J;
Kendler, Kenneth S;
Riley, Brien P;
Gillespie, Nathan A;
Prescott, Carol A;
Middeldorp, Christel M;
Willemsen, Gonneke;
de Geus, Eco JC;
Hottenga, Jouke-Jan;
Boomsma, Dorret I;
Slagboom, Eline P;
Wray, Naomi R;
Montgomery, Grant W;
Martin, Nicholas G;
Wright, Margie J;
Heath, Andrew C

Publication type:

Article

PDGFRa mutations in humans with isolated cleft palate.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1058, doi. 10.1038/ejhg.2012.55

By:

Rattanasopha, Sawitree;
Tongkobpetch, Siraprapa;
Srichomthong, Chalurmpon;
Siriwan, Pichit;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1024, doi. 10.1038/ejhg.2012.57

By:

Mansour, Sahar;
Swinkels, Marielle;
Terhal, Paulien A;
Wilson, Louise C;
Rich, Philip;
Van Maldergem, Lionel;
Zwijnenburg, Petra JG;
Hall, Christine M;
Robertson, Stephen P;
Newbury-Ecob, Ruth

Publication type:

Article

Aniridia.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1011, doi. 10.1038/ejhg.2012.100

By:

Hingorani, Melanie;
Hanson, Isabel;
van Heyningen, Veronica

Publication type:

Article

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1032, doi. 10.1038/ejhg.2012.60

By:

Radhakrishna, Uppala;
Ratnamala, Uppala;
Deutsch, Samuel;
Bartoloni, Lucia;
Kuracha, Murali R;
Singh, Raminder;
Banwait, Jasjit;
Bastola, Dhundy K;
Johar, Kaid;
Nath, Swapan K;
Antonarakis, Stylianos E

Publication type:

Article

De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1037, doi. 10.1038/ejhg.2012.49

By:

Ehli, Erik A;
Abdellaoui, Abdel;
Hu, Yueshan;
Hottenga, Jouke Jan;
Kattenberg, Mathijs;
van Beijsterveldt, Toos;
Bartels, Meike;
Althoff, Robert R;
Xiao, Xiangjun;
Scheet, Paul;
de Geus, Eco J;
Hudziak, James J;
Boomsma, Dorret I;
Davies, Gareth E

Publication type:

Article

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1051, doi. 10.1038/ejhg.2012.138

By:

Shashi, Vandana;
Francis, Alan;
Hooper, Stephen R;
Kranz, Peter G;
Zapadka, Michael;
Schoch, Kelly;
Ip, Edward;
Tandon, Neeraj;
Howard, Timothy D;
Keshavan, Matcheri S

Publication type:

Article

Clinical utility gene card for: Glanzmann thrombasthenia.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1102, doi. 10.1038/ejhg.2012.178

By:

Fiore, Mathieu;
Nurden, Alan T;
Nurden, Paquita;
Seligsohn, Uri

Publication type:

Article

Clinical utility gene card for: Glanzmann thrombasthenia.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1, doi. 10.1038/ejhg.2012.151

By:

Fiore, Mathieu;
Nurden, Alan T;
Nurden, Paquita;
Seligsohn, Uri

Publication type:

Article

Sampling strategies for rare variant tests in case-control studies.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1085, doi. 10.1038/ejhg.2012.58

By:

Zöllner, Sebastian

Publication type:

Article

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1044, doi. 10.1038/ejhg.2012.41

By:

Lana, Erica;
Mégarbané, André;
Tourrière, Hélène;
Sarda, Pierre;
Lefranc, Gérard;
Claustres, Mireille;
De Sario, Albertina

Publication type:

Article