Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 2

Results: 20

Neurofibromatosis 1.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 131, doi. 10.1038/sj.ejhg.5201676

By:

Ferner, Rosalie E.

Publication type:

Article

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 185, doi. 10.1038/sj.ejhg.5201723

By:

Joensuu, Tarja;
Kuronen, Mervi;
Alakurtti, Kirsi;
Tegelberg, Saara;
Hakala, Paula;
Aalto, Antti;
Huopaniemi, Laura;
Aula, Nina;
Michellucci, Roberto;
Eriksson, Kai;
Lehesjoki, Anna-Elina

Publication type:

Article

Pairwise linkage disequilibrium under disease models.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 212, doi. 10.1038/sj.ejhg.5201731

By:

Schrodi, Steven J.;
Garcia, Veronica E.;
Rowland, Charley;
Jones, Hywel B.

Publication type:

Article

Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 221, doi. 10.1038/sj.ejhg.5201732

By:

Barlera, Simona;
Specchia, Claudia;
Farrall, Martin;
Chiodini, Benedetta D.;
Franzosi, Maria Grazia;
Rust, Stephan;
Green, Fiona;
Nicolis, Enrico B.;
Peden, John;
Assmann, Gerd;
Collins, Rory;
Hamsten, Anders;
Tognoni, Gianni;
Watkins, Hugh

Publication type:

Article

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 242, doi. 10.1038/sj.ejhg.5201733

By:

Basel-Vanagaite, Lina;
Pelet, Anna;
Steiner, Zvi;
Munnich, Arnold;
Rozenbach, Yoram;
Shohat, Mordechai;
Lyonnet, Stanislas

Publication type:

Article

Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 237, doi. 10.1038/sj.ejhg.5201734

By:

Cybulski, Cezary;
Wokołorczyk, Dominika;
Kładny, Józef;
Kurzwaski, Grzegorz;
Suchy, Joanna;
Grabowska, Ewa;
Gronwald, Jacek;
Huzarski, Tomasz;
Byrski, Tomasz;
Górski, Bohdan;
Dȩcedil, Tadeusz;
Narod, Steven A.;
Lubiński, Jan

Publication type:

Article

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735

By:

Ruiter, E. Mariken;
Siers, Marloes H.;
van den Elzen, Christa;
van Engelen, Baziel G.;
Smeitink, Jan A. M.;
Rodenburg, Richard J.;
Hol, Frans A.

Publication type:

Article

Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 173, doi. 10.1038/sj.ejhg.5201736

By:

White, Dominic R. A.;
Ganesh, Anuradha;
Nishimura, Darryl;
Rattenberry, Eleanor;
Ahmed, Shakeel;
Smith, Ursula M.;
Pasha, Shanaz;
Raeburn, Sandy;
Trembath, Richard C.;
Rajab, Anna;
Macdonald, Fiona;
Banin, Eyal;
Stone, Edwin M.;
Johnson, Colin A.;
Sheffield, Val C.;
Maher, Eamonn R.

Publication type:

Article

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 143, doi. 10.1038/sj.ejhg.5201737

By:

Schoumans, Jacqueline;
Wincent, Josephine;
Barbaro, Michela;
Djureinovic, Tatjana;
Maguire, Paula;
Forsberg, Lena;
Staaf, Johan;
Thuresson, Ann Charlotte;
Borg, Åke;
Nordgren, Ann;
Malm, Gunilla;
Anderlid, Britt Marie

Publication type:

Article

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 162, doi. 10.1038/sj.ejhg.5201738

By:

Patsalis, Philippos C.;
Kousoulidou, Ludmila;
Männik, Katrin;
Sismani, Carolina;
Žilina, Olga;
Parkel, Sven;
Puusepp, Helen;
Tõnisson, Neeme;
Palta, Priit;
Remm, Maido;
Kurg, Ants

Publication type:

Article

Replication of reported linkages for dyslexia and spelling and suggestive evidence for novel regions on chromosomes 4 and 17.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 194, doi. 10.1038/sj.ejhg.5201739

By:

Bates, Timothy C.;
Luciano, Michelle;
Castles, Anne;
Coltheart, Max;
Wright, Margaret J.;
Martin, Nicholas G.

Publication type:

Article

Stability of BAT26 in Lynch syndrome colorectal tumours.

Published in:

2007

By:

Jaskowski, Lesley;
Young, Joanne;
Jackson, Leigh;
Arnold, Sven;
Barker, Melissa A.;
Walsh, Michael D.;
Buchanan, Daniel D.;
Holman, Samantha;
Mensink, Kara A.;
Jenkins, Mark A.;
Hopper, John L.;
Thibodeau, Stephen N.;
Jass, Jeremy R.;
Spurdle, Amanda B.

Publication type:

Letter

Reply to Jaskowski et al.

Published in:

2007

By:

Pastrello, Chiara;
Tricarico, Rossella;
Tibiletti, Maria Grazia;
Papi, Laura;
Fornasarig, Mara;
Morabito, Alberto;
Agostini, Marco;
Genuardi, Maurizio;
Viel, Alessandra

Publication type:

Letter

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 179, doi. 10.1038/sj.ejhg.5201742

By:

Gruber, Robert;
Janecke, Andreas R,;
Fauth, Christine;
Utermann, Gerd;
Fritsch, Peter O,;
Schmuth, Matthias

Publication type:

Article

Using HapMap data: a cautionary note.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 246, doi. 10.1038/sj.ejhg.5201743

By:

Biswas, Nidhan K.;
Dey, Badal;
Majumder, Partha P.

Publication type:

Article

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201744

By:

Zankl, Andreas;
Jackson, Gail C.;
Crettol, Laureane Mittaz;
Taylor, Jacky;
Elles, Rob;
Mortier, Geert R.;
Spranger, Jurgen;
Zabel, Bernhard;
Unger, Sheila;
Merrer, Martine Le;
Cormier-Daire, Valerie;
Hall, Christine M.;
Wright, Michael J.;
Bonafe, Luisa;
Superti-Furga, Andrea;
Briggs, Michael D.

Publication type:

Article

A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 204, doi. 10.1038/sj.ejhg.5201748

By:

Rootsi, Siiri;
Zhivotovsky, Lev A.;
Baldovič, Marian;
Kayser, Manfred;
Kutuev, Ildus A.;
Khusainova, Rita;
Bermisheva, Marina A.;
Gubina, Marina;
Fedorova, Sardana A.;
Ilumäe, Anne-Mai;
Khusnutdinova, Elza K.;
Voevoda, Mikhail I.;
Osipova, Ludmila P.;
Stoneking, Mark;
Lin, Alice A.;
Ferak, Vladimir;
Parik, Jüri;
Kivisild, Toomas;
Underhill, Peter A.;
Villems, Richard

Publication type:

Article

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 250, doi. 10.1038/sj.ejhg.5201750

By:

Basel-Vanagaite, Lina;
Taub, Ellen;
Halpern, Gabrielle J.;
Drasinover, Valerie;
Magal, Nurit;
Davidov, Bella;
Zlotogora, Joël;
Shohat, Mordechai

Publication type:

Article

Methods for the selection of tagging SNPs: a comparison of tagging efficiency and performance.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 228, doi. 10.1038/sj.ejhg.5201755

By:

Ding, Keyue;
Kullo, Iftikhar J.

Publication type:

Article

Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?

Published in:

2007

By:

Cybulski, Cezary;
Wokołorczyk, Dominika;
Kładny, Józef;
Kurzawski, Grzegorz;
Suchy, Joanna;
Grabowska, Ewa;
Gronwald, Jacek;
Huzarski, Tomasz;
Byrski, Tomasz;
Górski, Bohdan;
Dębniak, Tadeusz;
Narod, Steven A;
Lubiński, Jan

Publication type:

Correction Notice