Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 9

Results: 17

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1100, doi. 10.1002/humu.20841

By:

Gaudio, Daniela del;
Yang, Yaping;
Boggs, Barbara A.;
Schmitt, Eric S.;
Lee, Jennifer A.;
Sahoo, Trilochan;
Pham, Hoang T.;
Wiszniewska, Joanna;
Craig Chinault, A.;
Beaudet, Arthur L.;
Eng, Christine M.

Publication type:

Article

SLC45A2: a novel malignant melanoma-associated gene.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1161, doi. 10.1002/humu.20804

By:

Fernandez, L.P.;
Milne, R.L.;
Pita, G.;
Avilés, J.A.;
Lázaro, P.;
Benítez, J.;
Ribas, G.

Publication type:

Article

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1141, doi. 10.1002/humu.20771

By:

Buiting, Karin;
Kanber, Deniz;
Martín-Subero, José I.;
Lieb, Wolfgang;
Terhal, Paulien;
Albrecht, Beate;
Purmann, Sabine;
Gross, Stephanie;
Lich, Christina;
Siebert, Reiner;
Horsthemke, Bernhard;
Gillessen-Kaesbach, Gabriele

Publication type:

Article

Moving Microarrays Into Clinical Care.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1081, doi. 10.1002/humu.20856

By:

Watson, Michael S.

Publication type:

Article

Automated splicing mutation analysis by information theory.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1168, doi. 10.1002/humu.20867

By:

Nalla, Vijay K.;
Rogan, Peter K.

Publication type:

Article

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1147, doi. 10.1002/humu.20786

By:

Chavarria-Soley, Gabriela;
Sticht, Heinrich;
Aklillu, Eleni;
Ingelman-Sundberg, Magnus;
Pasutto, Francesca;
Reis, André;
Rautenstrauss, Bernd

Publication type:

Article

Variants of the MATP/ SLC45A2 gene are protective for melanoma in the French population.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1154, doi. 10.1002/humu.20823

By:

Guedj, Mickaël;
Bourillon, Agnès;
Combadières, Christophe;
Rodero, Mathieu;
Dieudé, Philippe;
Descamps, Vincent;
Dupin, Nicolas;
Wolkenstein, Pierre;
Aegerter, Philippe;
Lebbe, Céleste;
Basset-Seguin, Nicole;
Prum, Bernard;
Saiag, Philippe;
Grandchamp, Bernard;
Soufir, Nadem

Publication type:

Article

Somatic mosaicism for copy number variation in differentiated human tissues.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1118, doi. 10.1002/humu.20815

By:

Piotrowski, Arkadiusz;
Bruder, Carl E.G.;
Andersson, Robin;
de Ståhl, Teresita Diaz;
Menzel, Uwe;
Sandgren, Johanna;
Poplawski, Andrzej;
von Tell, Desiree;
Crasto, Chiquito;
Bogdan, Adam;
Bartoszewski, Rafal;
Bebok, Zsuzsa;
Krzyzanowski, Maciej;
Jankowski, Zbigniew;
Partridge, E. Christopher;
Komorowski, Jan;
Dumanski, Jan P.

Publication type:

Article

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E173, doi. 10.1002/humu.20826

By:

Pros, Eva;
Gómez, Carolina;
Martín, Thamar;
Fábregas, Pere;
Serra, Eduard;
Lázaro, Conxi

Publication type:

Article

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E194, doi. 10.1002/humu.20836

By:

Chouery, Eliane;
Delague, Valérie;
Bergougnoux, Anne;
Koussa, Salam;
Serre, Jean-Louis;
Mégarbané, André

Publication type:

Article

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1108, doi. 10.1002/humu.20762

By:

Sorani, Marco D.;
Manley, Geoffrey T.;
Giacomini, Kathleen M.

Publication type:

Article

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1083, doi. 10.1002/humu.20829

By:

Saillour, Yoann;
Cossée, Mireille;
Leturcq, France;
Vasson, Aurélie;
Beugnet, Caroline;
Poirier, Karine;
Commere, Virginie;
Sublemontier, Sébastien;
Viel, Marion;
Letourneur, Franck;
Barbot, Jean Claude;
Deburgrave, Nathalie;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1133, doi. 10.1002/humu.20759

By:

Kiefer, Susan M.;
Robbins, Lynn;
Barina, Andrew;
Zhang, Zhihong;
Rauchman, Michael

Publication type:

Article

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E132, doi. 10.1002/humu.20820

By:

Kannengiesser, Caroline;
Gérard, Bénédicte;
El Benna, Jamel;
Henri, Dominique;
Kroviarski, Yolande;
Chollet-Martin, Sylvie;
Gougerot-Pocidalo, Marie-Anne;
Elbim, Carole;
Grandchamp, Bernard

Publication type:

Article

Microarray-based mutation detection in the dystrophin gene.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1091, doi. 10.1002/humu.20831

By:

Hegde, Madhuri R.;
Chin, Ephrem L.H.;
Mulle, Jennifer G.;
Okou, David T.;
Warren, Stephen T.;
Zwick, Michael E.

Publication type:

Article

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E150, doi. 10.1002/humu.20824

By:

Wong, Lee-Jun C.;
Naviaux, Robert K.;
Brunetti-Pierri, Nicola;
Zhang, Qing;
Schmitt, Eric S.;
Truong, Cavatina;
Milone, Margherita;
Cohen, Bruce H.;
Wical, Beverly;
Ganesh, Jaya;
Basinger, Alice A.;
Burton, Barbara K.;
Swoboda, Kathryn;
Gilbert, Donald L.;
Vanderver, Adeline;
Saneto, Russell P.;
Maranda, Bruno;
Arnold, Georgianne;
Abdenur, Jose E.;
Waters, Paula J.

Publication type:

Article

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1125, doi. 10.1002/humu.20750

By:

Marcelis, Carlo L.M.;
Hol, Frans A.;
Graham, Gail E.;
Rieu, Paul N.M.A.;
Kellermayer, Richard;
Meijer, Rowdy P.P.;
Lugtenberg, Dorien;
Scheffer, Hans;
van Bokhoven, Hans;
Brunner, Han G.;
de Brouwer, Arjan P.M.

Publication type:

Article