Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 2

Results: 21

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 203, doi. 10.1002/humu.9474

By:

Rubio, Juan C.;
Garcia-Consuegra, Ines;
Nogales-Gadea, Gisela;
Blazquez, Alberto;
Cabello, Ana;
Lucia, Alejandro;
Andreu, Antoni L.;
Arenas, Joaquin;
Martin, Miguel A.

Publication type:

Article

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9481

By:

Birk Møller, Lisbeth;
Nygren, Anders O.H.;
Scott, Patrick;
Hougaard, Pia;
Bieber Nielsen, Jytte;
Hartmann, Caroline;
Güttler, Flemming;
Tyfield, Linda;
Zschocke, Johannes

Publication type:

Article

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 150, doi. 10.1002/humu.20400

By:

Krawczak, Michael;
Thomas, Nick S.T.;
Hundrieser, Bernd;
Mort, Matthew;
Wittig, Michael;
Hampe, Jochen;
Cooper, David N.

Publication type:

Article

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9478

By:

Borck, Guntram;
Zarhrate, Mohamed;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 183, doi. 10.1002/humu.20422

By:

Deburgrave, Nathalie;
Daoud, Fatma;
Llense, Stéphane;
Barbot, Jean Claude;
Récan, Dominique;
Peccate, Cécile;
Burghes, Arthur H.M.;
Béroud, Christophe;
Garcia, Luis;
Kaplan, Jean-Claude;
Chelly, Jamel;
Leturcq, France

Publication type:

Article

Genotype-phenotype correlations in von Hippel-Lindau disease.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 143, doi. 10.1002/humu.20385

By:

Ong, Kai Ren;
Woodward, Emma R.;
Killick, Pip;
Lim, Caron;
Macdonald, Fiona;
Maher, Eamonn R.

Publication type:

Article

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 206, doi. 10.1002/humu.9480

By:

Ferrentino, Rosa;
Bassi, Maria Teresa;
Chitayat, David;
Tabolacci, Elisabetta;
Meroni, Germana

Publication type:

Article

Identification of seven novel germline mutations in the human E-cadherin ( CDH1) Gene.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 203, doi. 10.1002/humu.9473

By:

More, H.;
Humar, B.;
Weber, W.;
Ward, R.;
Christian, A.;
Lintott, C.;
Graziano, F.;
Ruzzo, A-M.;
Acosta, E.;
Boman, B.;
Harlan, M.;
Ferreira, P.;
Seruca, R.;
Suriano, G.;
Guilford, P.

Publication type:

Article

Deletion of exon 16 of the dystrophin gene is not associated with disease.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9477

By:

Schwartz, Marianne;
Dunø, Morten;
Palle, Anne Lise;
Krag, Thomas;
Vissing, John

Publication type:

Article

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 177, doi. 10.1002/humu.20421

By:

Rooms, Liesbeth;
Reyniers, Edwin;
Kooy, R. Frank

Publication type:

Article

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 208, doi. 10.1002/humu.9483

By:

Haruna, Yoshisumi;
Kobori, Atsushi;
Makiyama, Takeru;
Yoshida, Hidetada;
Akao, Masaharu;
Doi, Takahiro;
Tsuji, Keiko;
Ono, Seiko;
Nishio, Yukiko;
Shimizu, Wataru;
Inoue, Takehiko;
Murakami, Tomoaki;
Tsuboi, Naoya;
Yamanouchi, Hideo;
Ushinohama, Hiroya;
Nakamura, Yoshihide;
Yoshinaga, Masao;
Horigome, Hitoshi;
Aizawa, Yoshifusa;
Kita, Toru

Publication type:

Article

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9476

By:

Botzenhart, Elke M.;
Bartalini, Gabriella;
Blair, Edward;
Brady, Angela F.;
Elmslie, Frances;
Chong, Karen L.;
Christy, Katie;
Torres-Martinez, Wilfredo;
Danesino, Cesare;
Deardorff, Matthew A.;
Fryns, Jean-Pierre;
Marlin, Sandrine;
Garcia-Minaur, Sixto;
Hellenbroich, Yorck;
Hay, Beverly N.;
Penttinen, Maila;
Shashi, Vandana;
Terhal, Paulien;
Van Maldergem, Lionel;
Whiteford, Margo L.

Publication type:

Article

Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 99, doi. 10.1002/humu.20420

By:

Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 196, doi. 10.1002/humu.20428

By:

Béroud, Christophe;
Tuffery-Giraud, Sylvie;
Matsuo, Masafumi;
Hamroun, Dalil;
Humbertclaude, Véronique;
Monnier, Nicole;
Moizard, Marie-Pierre;
Voelckel, Marie-Antoinette;
Calemard, Laurence Michel;
Boisseau, Pierre;
Blayau, Martine;
Philippe, Christophe;
Cossée, Mireille;
Pagès, Michel;
Rivier, François;
Danos, Olivier;
Garcia, Luis;
Claustres, Mireille

Publication type:

Article

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 159, doi. 10.1002/humu.20394

By:

Sánchez-Sánchez, Francisco;
Ramírez-Castillejo, Carmen;
Weekes, Daniel B.;
Beneyto, Magdalena;
Prieto, Félix;
Nájera, Carmen;
Mittnacht, Sibylle

Publication type:

Article

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482

By:

de Brouwer, Arjan P.M.;
Yntema, Helger G.;
Kleefstra, Tjitske;
Lugtenberg, Dorien;
Oudakker, Astrid R.;
de Vries, Bert B.A.;
van Bokhoven, Hans;
Van Esch, Hilde;
Frints, Suzanne G.M.;
Froyen, Guy;
Fryns, Jean-Pierre;
Raynaud, Martine;
Moizard, Marie-Pierre;
Ronce, Nathalie;
Bensalem, Anissa;
Moraine, Claude;
Poirier, Karine;
Castelnau, Laetitia;
Saillour, Yoann;
Bienvenu, Thierry

Publication type:

Article

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9475

By:

Caciotti, Anna;
Donati, Maria Alice;
Procopio, Elena;
Filocamo, Mirella;
Kleijer, Wim;
Wuyts, Wim;
Blaumeiser, Bettina;
d'Azzo, Alessandra;
Simi, Lisa;
Orlando, Claudio;
McKenzie, Fiona;
Fiumara, Agata;
Zammarchi, Enrico;
Morrone, Amelia

Publication type:

Article

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 206, doi. 10.1002/humu.9479

By:

Giardine, Belinda;
van Baal, Sjozef;
Kaimakis, Polynikis;
Riemer, Cathy;
Miller, Webb;
Samara, Maria;
Kollia, Panagoula;
Anagnou, Nicholas P.;
Chui, David H.K.;
Wajcman, Henri;
Hardison, Ross C.;
Patrinos, George P.

Publication type:

Article

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 137, doi. 10.1002/humu.20449

By:

Miné, Manuèle;
Chen, Jian-Min;
Brivet, Michèle;
Desguerre, Isabelle;
Marchant, Dominique;
de Lonlay, Pascale;
Bernard, Aral;
Férec, Claude;
Abitbol, Marc;
Ricquier, Daniel;
Marsac, Cécile

Publication type:

Article

A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 168, doi. 10.1002/humu.20397

By:

Griseri, Paola;
Lantieri, Francesca;
Puppo, Francesca;
Bachetti, Tiziana;
Di Duca, Marco;
Ravazzolo, Roberto;
Ceccherini, Isabella

Publication type:

Article

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 131, doi. 10.1002/humu.20423

By:

Shi, Jinxiu;
Liu, Qiang;
Sommer, Steve S.

Publication type:

Article