Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 3

Results: 19

Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.

Published in:

2008

By:

Friez, Michael J.;
Wilson, Joseph A. P.

Publication type:

Letter

Y-chromosome diversity characterizes the Gulf of Oman.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 374, doi. 10.1038/sj.ejhg.5201934

By:

Cadenas, Alicia M.;
Zhivotovsky, Lev A.;
Cavalli-Sforza, Luca L.;
Underhill, Peter A.;
Herrera, Rene J.

Publication type:

Article

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 279, doi. 10.1038/sj.ejhg.5201937

By:

Bombard, Yvonne;
Penziner, Elizabeth;
Suchowersky, Oksana;
Guttman, Mark;
Paulsen, Jane S.;
Bottorff, Joan L.;
Hayden, Michael R.

Publication type:

Article

A genome-wide scan suggests a susceptibility locus on 5p13 for nasopharyngeal carcinoma.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 343, doi. 10.1038/sj.ejhg.5201951

By:

Li-Fu Hu;
Qian-Hui Qiu;
Sheng-Miao Fu;
Di Sun;
Magnusson, Kristinn;
Bing He;
Lindblom, Annika;
Ernberg, Ingemar

Publication type:

Article

Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 350, doi. 10.1038/sj.ejhg.5201952

By:

Yang, P.;
Koopmann, T .T.;
Pfeufer, A.;
Jalilzadeh, S.;
Schulze-Bahr, E.;
Kääb, S.;
Wilde, A. A.;
Roden, D. M.;
Bezzina, C. R.

Publication type:

Article

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 391, doi. 10.1038/sj.ejhg.5201964

By:

Roth, Stephen M.;
Walsh, Sean;
Liu, Dongmei;
Metter, E. Jeffrey;
Ferrucci, Luigi;
Hurley, Ben F.

Publication type:

Article

It's in a chart! Handbook of Physical Measurements – Second Edition.

Published in:

2008

By:

Moog, Ute

Publication type:

Book Review

Process and outcome in communication of genetic information within families: a systematic review.

Published in:

2008

By:

Gaff, Clara L.;
Clarke, Angus J.;
Atkinson, Paul

Publication type:

Correction Notice

The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 358, doi. 10.1038/sj.ejhg.5201973

By:

Krapels, Ingrid P. C.;
Raijmakers-Eichhorn, Judith;
Peters, Wilbert H. M.;
Roelofs, Hennie M. J.;
Ras, Frank;
Steegers-Theunissen, Régine P. M.

Publication type:

Article

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 328, doi. 10.1038/sj.ejhg.5201974

By:

Zeschnigk, Michael;
Albrecht, Beate;
Buiting, Karin;
Kanber, Deniz;
Eggermann, Thomas;
Binder, Gerhard;
Gromoll, Jörg;
Prott, Eva-Christina;
Seland, Saskia;
Horsthemke, Bernhard

Publication type:

Article

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975

By:

Koolen, David A.;
Sistermans, Erik A.;
Nilessen, Willy;
Knight, Samantha J. L.;
Regan, Regina;
Liu, Yan T.;
Kooy, R. Frank;
Rooms, Liesbeth;
Romano, Corrado;
Fichera, Marco;
Schinzel, Albert;
Baumer, Alessandra;
Anderlid, Britt-Marie;
Schoumans, Jacqueline;
Van Kessel, Ad Geurts;
Nordenskjold, Magnus;
De Vries, Bert B. A.

Publication type:

Article

Provision and quality assurance of preimplantation genetic diagnosis in Europe.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 290, doi. 10.1038/sj.ejhg.5201976

By:

Corveleyn, Anniek;
Morris, Michael A;
Dequeker, Elisabeth;
Sermon, Karen;
Davies, James Lawford;
Antiñolo, Guillermo;
Schmutzler, Andreas;
Vanecek, Jiri;
Nagels, Nick;
Zika, Eleni;
Palau, Francesc;
Ibarreta, Dolores

Publication type:

Article

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 305, doi. 10.1038/sj.ejhg.5201978

By:

Grisart, Bernard;
Rack, Katrina;
Vidrequin, Sébastien;
Hilbert, Pascale;
Deltenre, Pierre;
Verellen-Dumoulin, Christine;
Destrée, Anne

Publication type:

Article

Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 335, doi. 10.1038/sj.ejhg.5201979

By:

Boomsma, Dorret I.;
Willemsen, Gonneke;
Sullivan, Patrick F.;
Heutink, Peter;
Meijer, Piet;
Sondervan, David;
Kluft, Cornelis;
Smit, Guus;
Nolen, Willem A.;
Zitman, Frans G.;
Smit, Johannes H.;
Hoogendijk, Witte J.;
Van Dyck, Richard;
De Geus, Eco J. C.;
Penninx, Brenda W. J. H.

Publication type:

Article

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 367, doi. 10.1038/sj.ejhg.5201980

By:

Kuhl, Angelika;
Melberg, Atle;
Meinl, Edgar;
Nürnberg, Gudrun;
Nürnberg, Peter;
Kehrer-Sawatzki, Hildegard;
Jenne, Dieter E

Publication type:

Article

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 300, doi. 10.1038/sj.ejhg.5201982

By:

Rezaie, Tayebeh;
Ghoroghchian, Rose;
Bell, Rachel;
Brice, Glen;
Hasan, Ali;
Burnand, Kevin;
Vernon, Steve;
Mansour, Sahar;
Mortimer, Peter;
Jeffery, Steve;
Child, Anne;
Sarfarazi, Mansoor

Publication type:

Article

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 312, doi. 10.1038/sj.ejhg.5201985

By:

Gilling, Mette;
Lauritsen, Marlene Briciet;
Møller, Morten;
Henriksen, Karen Friis;
Vicente, Astrid;
Oliveira, Guiomar;
Cintin, Christina;
Eiberg, Hans;
Andersen, Paal Skyt;
Mors, Ole;
Rosenberg, Thomas;
Brøndum-Nielsen, Karen;
Cotterill, Rodney M. J.;
Lundsteen, Claes;
Ropers, Hans-Hilger;
Ullmann, Reinhard;
Bache, Iben;
Tümer, Zeynep;
Tommerup, Niels

Publication type:

Article

Genome-wide association studies of quantitative traits with related individuals: little (power) lost but much to be gained.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 387, doi. 10.1038/sj.ejhg.5201990

By:

Visscher, Peter M.;
Andrew, Toby;
Nyholt, Dale R.

Publication type:

Article

Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 320, doi. 10.1038/sj.ejhg.5201991

By:

Laugel, Vincent;
Dalloz, Cecile;
Stary, Anne;
Cormier-Daire, Valerie;
Desguerre, Isabelle;
Renouil, Michel;
Fourmaintraux, Alain;
Velez-Cruz, Renier;
Egly, Jean-Marc;
Sarasin, Alain;
Dollfus, Helene

Publication type:

Article