Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 5

Results: 29

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 563, doi. 10.1038/sj.ejhg.5201391

By:

Horn, Denise;
Chyrek, Magdalena;
Kleier, Saskia;
Lüttgen, Sabine;
Bolz, Hanno;
Hinkel, Georg-Klaus;
Korenke, Georg Christoph;
Rieß, Angelika;
Schell-Apacik, Can;
Tinschert, Sigrid;
Wieczorek, Dagmar;
Gillessen-Kaesbach, Gabriele;
Kutsche, Kerstin

Publication type:

Article

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372

By:

Hichri, Haifa;
Stoetzel, Corinne;
Laurier, Virginie;
Caron, Solenne;
Sigaudy, Sabine;
Sarda, Pierre;
Hamel, Christian;
Martin-Coignard, Dominique;
Gilles, Morin;
Leheup, Bruno;
Holder, Mureille;
Kaplan, Josseline;
Bitoun, Pierre;
Lacombe, Didier;
Verloes, Alain;
Bonneau, Dominique;
Perrin-Schmitt, Fabienne;
Brandt, Christian;
Besancon, Anne-Françoise;
Mandel, Jean-Louis

Publication type:

Article

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339

By:

Geneviève, David;
Héron, Delphine;
El Ghouzzi, Vincent;
Prost-Squarcioni, Catherine;
Le Merrer, Martine;
Jacquette, Aurélia;
Sanlaville, Damien;
Pinton, Florence;
Villeneuve, Nathalie;
Kalifa, Gabriel;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 528, doi. 10.1038/sj.ejhg.5201366

By:

Wakui, Keiko;
Gregato, Giuliana;
Ballif, Blake C.;
Glotzbach, Caron D.;
Bailey, Kristen A.;
Pao-Lin Kuo;
Whui-Chen Sue;
Sheffield, Leslie J.;
Irons, Mira;
Gomez, Enrique G.;
Hecht, Jacqueline T.;
Potocki, Lorraine;
Shaffer, Lisa G.

Publication type:

Article

Haplotype structure of TNFRSF5-TNFSF5 (CD40-CD40L) and association analysis in systemic lupus erythematosus.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 669, doi. 10.1038/sj.ejhg.5201367

By:

Chadha, Sapna;
Miller, Katie;
Farwell, Lisa;
Lightstone, Liz B.;
Daly, Mark J.;
Rioux, John D.;
Vyse, Timothy J.

Publication type:

Article

Genetic Testing: From chromosomes to DNA, a revolution in prenatal diagnosis.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 517, doi. 10.1038/sj.ejhg.5201327

By:

Breuning, Martijn H.

Publication type:

Article

Linkage disequilibrium patterns vary substantially among populations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 677, doi. 10.1038/sj.ejhg.5201368

By:

Sawyer, Sarah L.;
Mukherjee, Namita;
Pakstis, Andrew J.;
Feuk, Lars;
Kidd, Judith R.;
Brookes, Anthony J.;
Kidd, Kenneth K.

Publication type:

Article

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 623, doi. 10.1038/sj.ejhg.5201363

By:

Blakely, Emma L.;
de Silva, Rajith;
King, Andrew;
Schwarzer, Verena;
Harrower, Tim;
Dawidek, Gervase;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 570, doi. 10.1038/sj.ejhg.5201371

By:

Valle, Laura;
Cascón, Alberto;
Melchor, Lorenzo;
Otero, Ignacio;
Rodríguez-Perales, Sandra;
Sánchez, Lydia;
Cruz Cigudosa, Juan;
Robledo, Mercedes;
Weber, Barbara;
Urioste, Miguel;
Benítez, Javier

Publication type:

Article

A 2.3?Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 586, doi. 10.1038/sj.ejhg.5201369

By:

Bonaglia, Maria Clara;
Giorda, Roberto;
Tenconi, Romano;
Pessina, Marco;
Pramparo, Tiziano;
Borgatti, Renato;
Zuffardi, Orsetta

Publication type:

Article

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.

Published in:

2005

By:

Vink, Geraldine R.;
van Asperen, Christi J.;
Devilee, Peter;
Breuning, Martijn H.;
Bakker, Egbert

Publication type:

Letter

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

Published in:

2005

By:

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

Publication type:

Correction Notice

Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 649, doi. 10.1038/sj.ejhg.5201392

By:

Leeuwen, Irma S. Lantinga-van;
Leonhard, Wouter N.;
Dauwerse, Hans;
Baelde, Hans J.;
van Oost, Bernard A.;
Breuning, Martijn H.;
Peters, Dorien J. M.

Publication type:

Article

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 547, doi. 10.1038/sj.ejhg.5201374

By:

Kennedy, Jason;
Jackson, Gail;
Ramsden, Simon;
Taylor, Jacky;
Newman, William;
Wright, Michael J;
Donnai, Dian;
Elles, Rob;
Briggs, Michael D

Publication type:

Article

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 617, doi. 10.1038/sj.ejhg.5201375

By:

Tajsharghi, Homa;
Darin, Niklas;
Rekabdar, Elham;
Kyllerman, Mårten;
Wahlström, Jan;
Martinsson, Tommy;
Oldfors, Anders

Publication type:

Article

A y<sup>+</sup>LAT-1 mutant protein interferes with y<sup>+</sup>LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 628, doi. 10.1038/sj.ejhg.5201376

By:

Sperandeo, Maria P.;
Paladino, Simona;
Maiuri, Luigi;
Maroupulos, George D.;
Zurzolo, Chiara;
Taglialatela, Maurizio;
Andria, Generoso;
Sebastio, Gianfranco

Publication type:

Article

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 592, doi. 10.1038/sj.ejhg.5201378

By:

Bartsch, Oliver;
Rasi, Sasan;
Hoffmann, Kristina;
Blin, Nikolaus

Publication type:

Article

Gene Therapy: The‘pro-sense’approach to Duchenne muscular dystrophy.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 518, doi. 10.1038/sj.ejhg.5201381

By:

van Deutekom, Judith C. T.

Publication type:

Article

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 635, doi. 10.1038/sj.ejhg.5201386

By:

Bicocchi, Maria Patrizia;
Migeon, Barbara R.;
Pasino, Mirella;
Lanza, Tiziana;
Bottini, Federico;
Boeri, Elio;
Molinari, Angelo C.;
Corsolini, Fabio;
Morerio, Cristina;
Acquila, Maura

Publication type:

Article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383

By:

Sanlaville, Damien;
Genevieve, David;
Bernardin, Céline;
Amiel, Jeanne;
Baumann, Clarisse;
de Blois, Marie-Christine;
Cormier-Daire, Valérie;
Gerard, Bénédicte;
Gerard, Marion;
Le Merrer, Martine;
Parent, Philippe;
Prieur, Fabienne;
Prieur, Marguerite;
Raoul, Odile;
Toutain, Annick;
Verloes, Alain;
Viot, Géraldine;
Romana, Serge;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

Functional disomy of the Xq28 chromosome region.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 579, doi. 10.1038/sj.ejhg.5201384

By:

Sanlaville, Damien;
Prieur, Marguerite;
de Blois, Marie-Christine;
Genevieve, David;
Lapierre, Jean-Michel;
Ozilou, Catherine;
Picq, Monique;
Gosset, Philippe;
Morichon-Delvallez, Nicole;
Munnich, Arnold;
Cormier-Daire, Valerie;
Baujat, Genevieve;
Romana, Serge;
Vekemans, Michel;
Turleau, Catherine

Publication type:

Article

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.

Published in:

2005

By:

Poirier, Karine;
Francis, Fiona;
Hamel, Ben;
Moraine, Claude;
Fryns, Jean Pierre;
Ropers, Hans H.;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Letter

Frequency of large CFTR gene rearrangements in Italian CF patients.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 687, doi. 10.1038/sj.ejhg.5201387

By:

Bombieri, Cristina;
Bonizzato, Alberto;
Castellani, Carlo;
Assael, Baroukh M.;
Pignatti, Pier Franco

Publication type:

Article

Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 660, doi. 10.1038/sj.ejhg.5201388

By:

Blanton, Ronald E.;
Salam, Ekram Abdel;
Ehsan, Amgad;
King, Charles H.;
Goddard, Katrina A. B.

Publication type:

Article

Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 641, doi. 10.1038/sj.ejhg.5201393

By:

Tabolacci, Elisabetta;
Pietrobono, Roberta;
Moscato, Umberto;
Oostra, Ben A.;
Chiurazzi, Pietro;
Neri, Giovanni

Publication type:

Article

Genetic Epidemiology of Cancer: Relatively risky relatives.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 519, doi. 10.1038/sj.ejhg.5201395

By:

Pharoah, Paul

Publication type:

Article

Genetic professionals'reports of nondisclosure of genetic risk information within families.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 556, doi. 10.1038/sj.ejhg.5201394

By:

Clarke, Angus;
Richards, Martin;
Kerzin-Storrar, Lauren;
Halliday, Jane;
Young, Mary Anne;
Simpson, Sheila A.;
Featherstone, Katie;
Forrest, Karen;
Lucassen, Anneke;
Morrison, Patrick J.;
Quarrell, Oliver W. J.;
Stewart, Helen

Publication type:

Article

Twin study of genetic and aging effects on X chromosome inactivation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 599, doi. 10.1038/sj.ejhg.5201398

By:

Kristiansen, Marianne;
Knudsen, Gun P. S.;
Bathum, Lise;
Naumova, Anna K.;
Sørensen, Thorkild I. A.;
Brix, Thomas H.;
Svendsen, Anders J.;
Christensen, Kaare;
Kyvik, Kirsten O.;
Ørstavik, Karen H.

Publication type:

Article

Evolutionary Genetics: The human brain-adaptation at many levels.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 520, doi. 10.1038/sj.ejhg.5201401

By:

Oldham, Michael C.;
Geschwind, Daniel H.

Publication type:

Article