Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 1

Results: 15

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 33, doi. 10.1002/humu.20371

By:

Pujo, Lucie;
Fagart, Jérôme;
Gary, Françoise;
Papadimitriou, Dimitris T.;
Claës, Aurélie;
Jeunemaître, Xavier;
Zennaro, Maria-Christina

Publication type:

Article

Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 97, doi. 10.1002/humu.9469

By:

Sims, Lynn M.;
Garvey, Dennis;
Ballantyne, Jack

Publication type:

Article

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 81, doi. 10.1002/humu.20417

By:

Pelletier, Valérie;
Jambou, Marguerite;
Delphin, Nathalie;
Zinovieva, Elena;
Stum, Morgane;
Gigarel, Nadine;
Dollfus, Hélène;
Hamel, Christian;
Toutain, Annick;
Dufier, Jean-Louis;
Roche, Olivier;
Munnich, Arnold;
Bonnefont, Jean-Paul;
Kaplan, Josseline;
Rozet, Jean-Michel

Publication type:

Article

Microsatellite in the 3′ untranslated region of human fibroblast growth factor 9 (FGF9) gene exhibits pleiotropic effect on modulating FGF9 protein expression.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 98, doi. 10.1002/humu.9471

By:

Chen, Tsung-Ming;
Kuo, Pao-Lin;
Hsu, Chien-Hui;
Tsai, Shaw-Jenq;
Chen, Mong-Jen;
Lin, Chieh-Wei;
Sun, H. Sunny

Publication type:

Article

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 41, doi. 10.1002/humu.20401

By:

Ibrahim, El Chérif;
Hims, Matthew M.;
Shomron, Noam;
Burge, Christopher B.;
Slaugenhaupt, Susan A.;
Reed, Robin

Publication type:

Article

Mutations in the C7orf11 ( TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 92, doi. 10.1002/humu.20419

By:

Botta, Elena;
Offman, Judith;
Nardo, Tiziana;
Ricotti, Roberta;
Zambruno, Giovanna;
Sansone, Daniela;
Balestri, Paolo;
Raams, Anja;
Kleijer, Wim J.;
Jaspers, Nicolaas G.J.;
Sarasin, Alain;
Lehmann, Alan R.;
Stefanini, Miria

Publication type:

Article

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 54, doi. 10.1002/humu.20403

By:

Bogdanova, Nadja;
Markoff, Arseni;
Eisert, Roswith;
Wermes, Cornelia;
Pollmann, Hartmut;
Todorova, Albena;
Chlystun, Marcin;
Nowak-Göttl, Ulrike;
Horst, Jürgen

Publication type:

Article

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 27, doi. 10.1002/humu.20436

By:

Lesage, Suzanne;
Magali, Periquet;
Lohmann, Ebba;
Lacomblez, Lucette;
Teive, Helio;
Janin, Sabine;
Cousin, Pierre-Yves;
Dürr, Alexandra;
Brice, Alexis

Publication type:

Article

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 98, doi. 10.1002/humu.9472

By:

Marongiu, Roberta;
Brancati, Francesco;
Antonini, Angelo;
Ialongo, Tamara;
Ceccarini, Caterina;
Scarciolla, Oronzo;
Capalbo, Anna;
Benti, Riccardo;
Pezzoli, Gianni;
Dallapiccola, Bruno;
Goldwurm, Stefano;
Valente, Enza Maria

Publication type:

Article

Somatic microindels: analysis in mouse soma and comparison with the human germline.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 69, doi. 10.1002/humu.20416

By:

Gonzalez, Kelly D.;
Hill, Kathleen A.;
Li, Kai;
Li, Wenyan;
Scaringe, William A.;
Wang, Ji-Cheng;
Gu, Dongqing;
Sommer, Steve S.

Publication type:

Article

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 1, doi. 10.1002/humu.20393

By:

Ahronowitz, Iris;
Xin, Winnie;
Kiely, Rosemary;
Sims, Katherine;
MacCollin, Mia;
Nunes, Fabio P.

Publication type:

Article

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 61, doi. 10.1002/humu.20409

By:

Lyfenko, Alla D.;
Ducreux, Sylvie;
Wang, Ying;
Xu, Le;
Zorzato, Francesco;
Ferreiro, Ana;
Meissner, Gerhard;
Treves, Susan;
Dirksen, Robert T.

Publication type:

Article

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 97, doi. 10.1002/humu.9470

By:

Dodé, Catherine;
Fouveaut, Corinne;
Mortier, Geert;
Janssens, Sandra;
Bertherat, Jérôme;
Mahoudeau, Jacques;
Kottler, Marie-Laure;
Chabrolle, Christine;
Gancel, Antoine;
François, Inge;
Devriendt, Koen;
Wolczynski, Slawomir;
Pugeat, Michel;
Pineiro-Garcia, Alfons;
Murat, Arnaud;
Bouchard, Philippe;
Young, Jacques;
Delpech, Marc;
Hardelin, Jean-Pierre

Publication type:

Article

The Italian XLMR bank: a clinical and molecular database.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 13, doi. 10.1002/humu.20411

By:

Pescucci, C.;
Caselli, R.;
Mari, F.;
Speciale, C.;
Ariani, F.;
Bruttini, M.;
Sampieri, K.;
Mencarelli, M.A.;
Scala, E.;
Longo, I.;
Artuso, R.;
Renieri, A.;
Meloni, I.

Publication type:

Article

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 19, doi. 10.1002/humu.20433

By:

Plecko, Barbara;
Paul, Karl;
Paschke, Eduard;
Stoeckler-Ipsiroglu, Sylvia;
Struys, Eduard;
Jakobs, Cornelis;
Hartmann, Hans;
Luecke, Thomas;
di Capua, Matteo;
Korenke, Christoph;
Hikel, Christiane;
Reutershahn, Elke;
Freilinger, Michael;
Baumeister, Fritz;
Bosch, Friedrich;
Erwa, Wolfgang

Publication type:

Article