Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 2

Results: 24

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.

Published in:

2005

By:

Viel, Marion;
Leroy, Chrystel;
Des Georges, Marie;
Claustres, Mireille;
Bienvenu, Thierry

Publication type:

Letter

Association of haplotypes in theß-chemokine locus with multiple sclerosis.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 240, doi. 10.1038/sj.ejhg.5201295

By:

Vyshkina, Tamara;
Shugart, Yin Yao;
Birnbaum, Gary;
Leist, Thomas P;
Kalman, Bernadette

Publication type:

Article

No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 253, doi. 10.1038/sj.ejhg.5201296

By:

Blankenburg, Sandra;
König, Inke R.;
Moessner, Rotraut;
Laspe, Petra;
Thoms, Kai-Martin;
Krueger, Ullrich;
Khan, Sikandar G.;
Westphal, Goetz;
Volkenandt, Matthias;
Neumann, Christine;
Ziegler, Andreas;
Kraemer, Kenneth H.;
Reich, Kristian;
Emmert, Steffen

Publication type:

Article

Evaluation of NSD2 and NSD3 in overgrowth syndromes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201298

By:

Douglas, Jenny;
Coleman, Kim;
Tatton-Brown, Katrina;
Hughes, Helen E;
Temple, I Karen;
Cole, Trevor R. P;
Rahman, Nazneen

Publication type:

Article

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 208, doi. 10.1038/sj.ejhg.5201300

By:

Alakurtti, Kirsi;
Weber, Ekkehard;
Rinne, Riitta;
Theil, Gerit;
de Haan, Gerrit-Jan;
Lindhout, Dick;
Salmikangas, Paula;
Saukko, Pekka;
Lahtinen, Ulla;
Lehesjoki, Anna-Elina

Publication type:

Article

Pedigree linkage disequilibrium mapping of quantitative trait loci.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 216, doi. 10.1038/sj.ejhg.5201301

By:

Ruzong Fan;
Christie Spinka;
Lei Jin;
Jee Sun Jung

Publication type:

Article

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201302

By:

Gajecka, Marzena;
Wei Yu;
Ballif, Blake C.;
Glotzbach, Caron D.;
Bailey, Kristen A.;
Shaw, Chad A.;
Kashork, Catherine D.;
Heilstedt, Heidi A.;
Ansel, David A.;
Theisen, Aaron;
Rice, Ritva;
Rice, David P.C.;
Shaffer, Lisa G.

Publication type:

Article

Mutation in the 5'alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 176, doi. 10.1038/sj.ejhg.5201303

By:

Abidi, Fatima E.;
Cardoso, Carlos;
Lossi, Anne-Marie;
Lowry, Robert Brian;
Depetris, Danielle;
Mattéi, Marie-Geneviève;
Lubs, Herbert A.;
Stevenson, Roger E.;
Fontes, Michel;
Chudley, Albert E.;
Schwartz, Charles E.

Publication type:

Article

Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China).

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 248, doi. 10.1038/sj.ejhg.5201305

By:

Wei-Hua Jia;
Collins, Andrew;
Yi-Xin Zeng;
Bing-Jian Feng;
Xing-Juan Yu;
Li-Xi Huang;
Qi-Sheng Feng;
Ping Huang;
Ming-Hong Yao;
Yin Yao Shugart

Publication type:

Article

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 184, doi. 10.1038/sj.ejhg.5201306

By:

Modiano, Guido;
Bombieri, Cristina;
Ciminelli, Bianca Maria;
Belpinati, Francesca;
Giorgi, Silvia;
des Georges, Marie;
Scotet, Virginie;
Pompei, Fiorenza;
Ciccacci, Cinzia;
Guittard, Caroline;
Audrézet, Marie Pierre;
Begnini, Angela;
Toepfer, Michael;
Macek, Milan;
Ferec, Claude;
Claustres, Mireille;
Pignatti, Pier Franco

Publication type:

Article

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 171, doi. 10.1038/sj.ejhg.5201307

By:

Gerdes, Tommy;
Kirchhoff, Maria;
Lind, Anne-Marie;
Larsen, Gitte Vestergaard;
Schwartz, Marianne;
Lundsteen, Claes

Publication type:

Article

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 166, doi. 10.1038/sj.ejhg.5201308

By:

Niemi, Anna-Kaisa;
Moilanen, Jukka S;
Tanaka, Masashi;
Hervonen, Antti;
Hurme, Mikko;
Lehtimäki, Terho;
Arai, Yasumichi;
Hirose, Nobuyoshi;
Majamaa, Kari

Publication type:

Article

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 260, doi. 10.1038/sj.ejhg.5201309

By:

Schoumans, Jacqueline;
Nordgren, Ann;
Ruivenkamp, Claudia;
Br&oslashndum- Nielsen, Karen;
Bin Tean Teh;
Annéren, Göran;
Holmberg, Eva;
Nordenskjöld, Magnus;
Anderlid, Britt -Marie

Publication type:

Article

One third of Danish hypertrophic cardiomyopathy patients have mutations in MYH7 rod region.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 161, doi. 10.1038/sj.ejhg.5201310

By:

Hougs, Lotte;
Havndrup, Ole;
Bundgaard, Henning;
Køber, Lars;
Vuust, Jens;
Larsen, Lars Allan;
Christiansen, Michael;
Andersen, Paal Skytt

Publication type:

Article

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 154, doi. 10.1038/sj.ejhg.5201311

By:

Crolla, John A.;
Youings, Sheila A.;
Ennis, Sarah;
Jacobs, Patricia A.

Publication type:

Article

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 198, doi. 10.1038/sj.ejhg.5201315

By:

Bonora, Elena;
Lamb, Janine A.;
Barnby, Gabrielle;
Sykes, Nuala;
Moberly, Thomas;
Beyer, Kim S.;
Klauck, Sabine M.;
Poustka, Firtz;
Bacchelli, Elena;
Blasi, Francesca;
Maestrini, Elena;
Battaglia, Agatino;
Haracopos, Demetrios;
Pedersen, Lennart;
Isager, Torben;
Eriksen, Gunna;
Viskum, Birgitte;
Sorensen, Ester-Ulsted;
Brondum-Nielsen, Karen;
Cotterill, Rodney

Publication type:

Article

PARK11 is not linked with Parkinson's disease in European families.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 193, doi. 10.1038/sj.ejhg.5201317

By:

Prestel, Jürgen;
Sharma, Manu;
Leitner, Petra;
Zimprich, Alexander;
Vaughan, Jenny R.;
Dürr, Alexandra;
Bonifati, Vincenzo;
De Michele, Giuseppe;
Hanagasi, Hasmet A.;
Farrer, Matthew;
Hofer, Anne;
Asmus, Friedrich;
Volpe, Giampiero;
Meco, Giuseppe;
Brice, Alexis;
Wood, NicholasW.;
Müller-Myhsok, Bertram;
Gasser, Thomas

Publication type:

Article

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 256, doi. 10.1038/sj.ejhg.5201320

By:

Brahe, Christina;
Vitali, Tiziana;
Tiziano, Francesco D;
Angelozzi, Carla;
Pinto, Anna Maria;
Borgo, Federica;
Moscato, Umberto;
Bertini, Enrico;
Mercuri, Eugenio;
Neri, Giovanni

Publication type:

Article

Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 232, doi. 10.1038/sj.ejhg.5201321

By:

Castanet, Mireille;
Sura-Trueba, Sylvia;
Chauty, Anne;
Carré, Aurore;
de Roux, Nicolas;
Heath, Simon;
Léger, Juliane;
Lyonnet, Stanislas;
Czernichow, Paul;
Polak, Michel

Publication type:

Article

Population genetics: Female migration rate might not be greater than male rate.

Published in:

2005

By:

Shriver, Mark D.

Publication type:

Editorial

Evolutionary Genetics: Evolutionary path to the heart.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 132, doi. 10.1038/sj.ejhg.5201330

By:

Shu Ye

Publication type:

Article

Genomics: Polymorphic landscape of the human genome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 133, doi. 10.1038/sj.ejhg.5201331

By:

Cheung, Vivian G.

Publication type:

Article

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Published in:

2005

By:

Starling, Alessandra;
Kok, Fernando;
Passos-Bueno, Maria Rita;
Vainzof, Mariz;
Zatz, Mayana

Publication type:

Correction Notice

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

Published in:

2005

By:

Alakurtti, Kirsi;
Weber, Ekkehard;
Rinne, Riitta;
Theil, Gerit;
de Haan, Gerrit-Jan;
Lindhout, Dick;
Salmikangas, Paula;
Saukko, Pekka;
Lahtinen, Ulla;
Lehesjoki, Anna-Elina

Publication type:

Correction Notice