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