Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 2

Results: 17

Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 186, doi. 10.1002/humu.9263

By:

Pittis, M.G.;
Ricci, V.;
Guerci, V. I.;
Marçais, C.;
Ciana, G.;
Dardis, A.;
Gerin, F.;
Stroppiano, M.;
Vanier, M.T.;
Filocamo, M.;
Bembi, B.

Publication type:

Article

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9260

By:

Simpson, Bronwyn J.;
Height, Tamara A.;
Rychkov, Grigori Y.;
Nowak, Kristen J.;
Laing, Nigel G.;
Hughes, Bernard P.;
Bretag, Allan H.

Publication type:

Article

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH Method.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 164, doi. 10.1002/humu.20072

By:

Slater, Howard;
Bruno, Damien;
Ren, Hua;
La, Phung;
Burgess, Trent;
Hills, Louise;
Nouri, Sara;
Schouten, Jan;
Andy Choo, K.H.

Publication type:

Article

Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 187, doi. 10.1002/humu.9264

By:

Mozas, Pilar;
Castillo, Sergio;
Tejedor, Diego;
Reyes, Gilberto;
Alonso, Rodrigo;
Franco, Miguel;
Saenz, Pedro;
Fuentes, Francisco;
Almagro, Fátima;
Mata, Pedro;
Pocoví, Miguel

Publication type:

Article

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 147, doi. 10.1002/humu.20071

By:

Hartikka, Heini;
Kuurila, Kaija;
Körkkö, Jarmo;
Kaitila, Ilkka;
Grénman, Reidar;
Pynnönen, Seppo;
Hyland, James C.;
Ala-Kokko, Leena

Publication type:

Article

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 172, doi. 10.1002/humu.20065

By:

Ariani, Francesca;
Mari, Francesca;
Pescucci, Chiara;
Longo, Ilaria;
Bruttini, Mirella;
Meloni, Ilaria;
Hayek, Giuseppe;
Rocchi, Raffaele;
Zappella, Michele;
Renieri, Alessandra

Publication type:

Article

A gel-free SNP genotyping method: bioluminometric assay coupled with modified primer extension reactions (BAMPER) directly from double-stranded PCR products.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 155, doi. 10.1002/humu.20052

By:

Zhou, Guo-Hua;
Shirakura, Hiromi;
Kamahori, Masao;
Okano, Kazunori;
Nagai, Keiichi;
Kambara, Hideki

Publication type:

Article

Bayesian approach to discovering pathogenic SNPs in conserved protein domains.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 178, doi. 10.1002/humu.20063

By:

Cai, Zhaohui;
Tsung, Eric F.;
Marinescu, Voichita D.;
Ramoni, Marco F.;
Riva, Alberto;
Kohane, Isaac S.

Publication type:

Article

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 120, doi. 10.1002/humu.20064

By:

Steiner, Bernhard;
Truninger, Kaspar;
Sanz, Javier;
Schaller, André;
Gallati, Sabina

Publication type:

Article

OrthoDisease: A database of human disease orthologs.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 112, doi. 10.1002/humu.20068

By:

O'Brien, Kevin P.;
Westerlund, Isabelle;
Sonnhammer, Erik L.L.

Publication type:

Article

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 140, doi. 10.1002/humu.20070

By:

Loeys, B.;
De Backer, J.;
Van Acker, P.;
Wettinck, K.;
Pals, G.;
Nuytinck, L.;
Coucke, P.;
De Paepe, A.

Publication type:

Article

Sjögren-Larsson syndrome: Seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 186, doi. 10.1002/humu.9262

By:

Carney, Gael;
Wei, Shu;
Rizzo, William B.

Publication type:

Article

Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 187, doi. 10.1002/humu.9265

By:

Tomatsu, Shunji;
Filocamo, Mirella;
Orii, Koji O.;
Sly, William S.;
Gutierrez, Monica A.;
Nishioka, Tatsuo;
Serrato, Olga Peña;
Natale, Paola Di;
Montaño, Adriana Maria;
Yamaguchi, Seiji;
Kondo, Naomi;
Orii, Tadao;
Noguchi, Akihiko

Publication type:

Article

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 107, doi. 10.1002/humu.20067

By:

Pidasheva, Svetlana;
D'Souza-Li, Lilia;
Canaff, Lucie;
Cole, David E.C.;
Hendy, Geoffrey N.

Publication type:

Article

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 130, doi. 10.1002/humu.20062

By:

Gootjes, Jeannette;
Schmohl, Frank;
Mooijer, Petra A.W.;
Dekker, Conny;
Mandel, Hanna;
Topcu, Meral;
Huemer, Martina;
von Schütz, M.;
Marquardt, Thorsten;
Smeitink, Jan A.;
Waterham, Hans R.;
Wanders, Ronald J.A.

Publication type:

Article

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9259

By:

Pennings, Ronald J.E.;
te Brinke, Heleen;
Weston, Michael D.;
Claassen, Annemarie;
Orten, Dana J.;
Weekamp, Henriëtte;
van Aarem, Annelies;
Huygen, Patrick L.M.;
Deutman, August F.;
Hoefsloot, Lies H.;
Cremers, Frans P.M.;
Cremers, Cor W.R.J.;
Kimberling, William J.;
Kremer, Hannie

Publication type:

Article

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9261

By:

Choi, Byung-Ok;
Lee, Mi Sun;
Shin, Sang Hee;
Hwang, Jung Hee;
Choi, Kyoung-Gyu;
Kim, Won-Ki;
Sunwoo, Il Nam;
Kim, Nam Keun;
Chung, Ki Wha

Publication type:

Article