Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 9

Results: 21

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 999, doi. 10.1038/ejhg.2012.42

By:

Leidenroth, Andreas;
Sorte, Hanne Sørmo;
Gilfillan, Gregor;
Ehrlich, Melanie;
Lyle, Robert;
Hewitt, Jane E

Publication type:

Article

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 933, doi. 10.1038/ejhg.2012.36

By:

Reunert, Janine;
Wentzell, Rüdiger;
Walter, Michael;
Jakubiczka, Sibylle;
Zenker, Martin;
Brune, Thomas;
Rust, Stephan;
Marquardt, Thorsten

Publication type:

Article

A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 965, doi. 10.1038/ejhg.2012.46

By:

Kruse, Lisbeth Venø;
Nyegaard, Mette;
Christensen, Ulla;
Møller-Larsen, Steffen;
Haagerup, Annette;
Deleuran, Mette;
Hansen, Lars Gudmund;
Venø, Stine Krogh;
Goossens, Dirk;
Del-Favero, Jurgen;
Børglum, Anders Dupont

Publication type:

Article

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 984, doi. 10.1038/ejhg.2012.39

By:

Hedberg, Carola;
Melberg, Atle;
Kuhl, Angelika;
Jenne, Dieter;
Oldfors, Anders

Publication type:

Article

Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 956, doi. 10.1038/ejhg.2012.22

By:

Pardo, Luba M;
Piras, Giovanna;
Asproni, Rosanna;
van der Gaag, Kristiaan J;
Gabbas, Attilio;
Ruiz-Linares, Andres;
de Knijff, Peter;
Monne, Maria;
Rizzu, Patrizia;
Heutink, Peter

Publication type:

Article

A family-based association test to detect gene-gene interactions in the presence of linkage.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 973, doi. 10.1038/ejhg.2012.45

By:

De Lobel, Lizzy;
Thijs, Lutgarde;
Kouznetsova, Tatiana;
Staessen, Jan A;
Van Steen, Kristel

Publication type:

Article

The phenotype associated with a large deletion on MECP2.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 921, doi. 10.1038/ejhg.2012.34

By:

Bebbington, Ami;
Downs, Jenny;
Percy, Alan;
Pineda, Mercé;
Zeev, Bruria Ben;
Bahi-Buisson, Nadia;
Leonard, Helen

Publication type:

Article

Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1004, doi. 10.1038/ejhg.2012.38

By:

de Jong, Simone;
van Eijk, Kristel R;
Zeegers, Dave W L H;
Strengman, Eric;
Janson, Esther;
Veldink, Jan H;
van den Berg, Leonard H;
Cahn, Wiepke;
Kahn, René S;
Boks, Marco P M;
Ophoff, Roel A

Publication type:

Article

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 990, doi. 10.1038/ejhg.2012.29

By:

Bondurand, Nadége;
Fouquet, Virginie;
Baral, Viviane;
Lecerf, Laure;
Loundon, Natalie;
Goossens, Michel;
Duriez, Benedicte;
Labrune, Philippe;
Pingault, Veronique

Publication type:

Article

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.122

By:

Van Rij, Maartje C;
De Rademaeker, Marjan;
Moutou, Céline;
Dreesen, Jos C F M;
De Rycke, Martine;
Liebaers, Inge;
Geraedts, Joep P M;
De Die-Smulders, Christine E M;
Viville, Stéphane

Publication type:

Article

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35

By:

Jannot, Anne-Sophie;
Amiel, Jeanne;
Pelet, Anna;
Lantieri, Francesca;
Fernandez, Raquel M;
Verheij, Joke B G M;
Garcia-Barcelo, Merce;
Arnold, Stacey;
Ceccherini, Isabella;
Borrego, Salud;
Hofstra, Robert M W;
Tam, Paul K H;
Munnich, Arnold;
Chakravarti, Aravinda;
Clerget-Darpoux, Françoise;
Lyonnet, Stanislas

Publication type:

Article

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 995, doi. 10.1038/ejhg.2012.21

By:

Guerrini, Renzo;
Mei, Davide;
Cordelli, Duccio Maria;
Pucatti, Daniela;
Franzoni, Emilio;
Parrini, Elena

Publication type:

Article

Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 953, doi. 10.1038/ejhg.2012.33

By:

Åberg, Karolina;
Khachane, Amit N;
Rudolf, Gábor;
Nerella, Srilaxmi;
Fugman, Douglas A;
Tischfield, Jay A;
van den Oord, Edwin JCG

Publication type:

Article

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 911, doi. 10.1038/ejhg.2012.56

By:

Hastings, Ros;
de Wert, Guido;
Fowler, Brian;
Krawczak, Michael;
Vermeulen, Eric;
Bakker, Egbert;
Borry, Pascal;
Dondorp, Wybo;
Nijsingh, Niels;
Barton, David;
Schmidtke, Jörg;
van El, Carla G;
Vermeesch, Joris;
Stol, Yrrah;
Carmen Howard, Heidi;
Cornel, Martina C

Publication type:

Article

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 938, doi. 10.1038/ejhg.2012.27

By:

van Uum, Chris MJ;
Stevens, Servi JC;
Dreesen, Joseph CFM;
Drüsedau, Marion;
Smeets, Hubert J;
Hollanders-Crombach, Bertien;
Die-Smulders, Christine EM de;
Geraedts, Joep PM;
Engelen, John JM;
Coonen, Edith

Publication type:

Article

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 986, doi. 10.1038/ejhg.2012.43

By:

Knijnenburg, Jeroen;
van Bever, Yolande;
Hulsman, Lorette O M;
van Kempen, Chantal A P;
Bolman, Galhana M;
van Loon, Rosa Laura E;
Beverloo, H Berna;
van Zutven, Laura J C M

Publication type:

Article

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 945, doi. 10.1038/ejhg.2012.40

By:

Raducu, Madalina;
Baets, Jonathan;
Fano, Oihane;
Van Coster, Rudy;
Cruces, Jesús

Publication type:

Article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114

By:

Rujirabanjerd, Sinitdhorn;
Nelson, John;
Tarpey, Patrick S;
Hackett, Anna;
Edkins, Sarah;
Raymond, F Lucy;
Schwartz, Charles E;
Turner, Gillian;
Iwase, Shigeki;
Shi, Yang;
Futreal, P Andrew;
Stratton, Michael R;
Gecz, Jozef

Publication type:

Article

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 928, doi. 10.1038/ejhg.2012.26

By:

Kagami, Masayo;
Kato, Fumiko;
Matsubara, Keiko;
Sato, Tomoko;
Nishimura, Gen;
Ogata, Tsutomu

Publication type:

Article

Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 981, doi. 10.1038/ejhg.2012.37

By:

Eisinger, François;
Fabre, Roxane;
Lasset, Christine;
Stoppa-Lyonnet, Dominique;
Julian-Reynier, Claire;
Nogues, Catherine

Publication type:

Article

All you ever wanted to know about teratogens and more.

Published in:

2012

By:

Becker, Kristin

Publication type:

Book Review