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

Results: 17

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
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
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
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
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
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