Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 5

Results: 17

Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 438, doi. 10.1002/humu.9283

By:

Zhang, Zhenghua;
Niu, Zhenmin;
Yuan, Wentao;
Liu, Weida;
Xiang, Leihong;
Zhang, Jing;
Chu, Xun;
Zhao, Jingjun;
Jiang, Faxing;
Chai, Bao;
Cui, Fan;
Wang, Ying;
Zhang, Kaiyue;
Wang, Yi;
Xu, Shijie;
Xia, Longqing;
Gu, Jun;
Zhang, Shoumin;
Meng, Xuemei;
Wang, Shuxia

Publication type:

Article

CRB1 mutation spectrum in inherited retinal dystrophies.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 355, doi. 10.1002/humu.20093

By:

den Hollander, Anneke I.;
Davis, Jason;
van der Velde-Visser, Saskia D.;
Zonneveld, Marijke N.;
Pierrottet, Chiara O.;
Koenekoop, Robert K.;
Kellner, Ulrich;
van den Born, L. Ingeborgh;
Heckenlively, John R.;
Hoyng, Carel B.;
Handford, Penny A.;
Roepman, Ronald;
Cremers, Frans P.M.

Publication type:

Article

A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 408, doi. 10.1002/humu.20106

By:

Hasin, Yehudit;
Avidan, Nili;
Bercovich, Dani;
Korczyn, Amos;
Silman, Israel;
Beckmann, Jacques S.;
Sussman, Joel L.

Publication type:

Article

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285

By:

Wright, Alan F.;
Reddick, Adam C.;
Schwartz, Sharon B.;
Ferguson, Julie S.;
Aleman, Tomas S.;
Kellner, Ulrich;
Jurklies, Bernhard;
Schuster, Andreas;
Zrenner, Eberhart;
Wissinger, Bernd;
Lennon, Alan;
Shu, Xinhua;
Cideciyan, Artur V.;
Stone, Edwin M.;
Jacobson, Samuel G.;
Swaroop, Anand

Publication type:

Article

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 417, doi. 10.1002/humu.20092

By:

Clermont, Olivier;
Burlet, Philippe;
Benit, Paule;
Chanterau, Dominique;
Saugier-Veber, Pascale;
Munnich, Arnold;
Cusin, Veronica

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. 5, p. 437, doi. 10.1002/humu.20108

By:

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

Publication type:

Article

Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 400, doi. 10.1002/humu.20096

By:

Perotti, Daniela;
De Vecchi, Giovanna;
Testi, Maria A.;
Lualdi, Elena;
Modena, Piergiorgio;
Mondini, Patrizia;
Ravagnani, Fernando;
Collini, Paola;
Di Renzo, Francesca;
Spreafico, Filippo;
Terenziani, Monica;
Sozzi, Gabriella;
Fossati-Bellani, Franca;
Radice, Paolo

Publication type:

Article

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 440, doi. 10.1002/humu.9287

By:

Di Leo, Enza;
Panico, Francesca;
Tarugi, Patrizia;
Battisti, Carla;
Federico, Antonio;
Calandra, Sebastiano

Publication type:

Article

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9286

By:

Mabuchi, Akihiko;
Haga, Nobuhiko;
Maeda, Koichi;
Nakashima, Eiji;
Manabe, Noriyo;
Hiraoka, Hisatada;
Kitoh, Hiroshi;
Kosaki, Rika;
Nishimura, Gen;
Ohashi, Hirofumi;
Ikegawa, Shiro

Publication type:

Article

Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 381, doi. 10.1002/humu.20090

By:

Echwald, Søren M.;
Andersen, Kirstine L.;
Sørensen, Thorkild I.A.;
Larsen, Lesli H.;
Andersen, Teis;
Tonooka, Naoko;
Tomura, Hideaki;
Takeda, Jun;
Pedersen, Oluf

Publication type:

Article

Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 370, doi. 10.1002/humu.20087

By:

Aretz, Stefan;
Uhlhaas, Siegfried;
Sun, Yuli;
Pagenstecher, Constanze;
Mangold, Elisabeth;
Caspari, Reiner;
Möslein, Gabriela;
Schulmann, Karsten;
Propping, Peter;
Friedl, Waltraut

Publication type:

Article

Polymorphism analysis within the HLA-A locus by universal oligonucleotide array.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 428, doi. 10.1002/humu.20098

By:

Consolandi, Clarissa;
Frosini, Andrea;
Pera, Cinzia;
Ferrara, Gian Battista;
Bordoni, Roberta;
Castiglioni, Bianca;
Rizzi, Ermanno;
Mezzelani, Alessandra;
Bernardi, Luigi Rossi;
De Bellis, Gianluca;
Battaglia, Cristina

Publication type:

Article

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 441, doi. 10.1002/humu.9289

By:

Savino, Maria;
d'Apolito, Maria;
Formica, Vincenza;
Baorda, Filomena;
Mari, Francesca;
Renieri, Alessandra;
Carabba, Enrico;
Tarantino, Enrico;
Andreucci, Elena;
Belli, Serena;
Muzio, Lorenzo Lo;
Dallapiccola, Bruno;
Zelante, Leopoldo;
Savoia, Anna

Publication type:

Article

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 435, doi. 10.1002/humu.20109

By:

Gallou, Catherine;
Chauveau, Dominique;
Richard, Stéphane;
Joly, Dominique;
Giraud, Sophie;
Olschwang, Sylviane;
Martin, Natacha;
Saquet, Céline;
Chrétien, Yves;
Méjean, Arnaud;
Correas, Jean-Michel;
Benoît, Gérard;
Colombeau, Pierre;
Grünfeld, Jean-Pierre;
Junien, Claudine;
Béroud, Christophe

Publication type:

Article

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 388, doi. 10.1002/humu.20097

By:

Pey, Angel L.;
Pérez, Belén;
Desviat, Lourdes R.;
Martínez, Ma Angeles;
Aguado, Cristina;
Erlandsen, Heidi;
Gámez, Alejandra;
Stevens, Raymond C.;
Thórólfsson, Matthías;
Ugarte, Magdalena;
Martínez, Aurora

Publication type:

Article

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 438, doi. 10.1002/humu.9284

By:

Gheduzzi, Dealba;
Guidetti, Rita;
Anzivino, Claudia;
Tarugi, Patrizia;
Di Leo, Enza;
Quaglino, Daniela;
Ronchetti, Ivonne Pasquali

Publication type:

Article

Homeologous recombination between AluSx-sequences as a cause of hemophilia.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 440, doi. 10.1002/humu.9288

By:

Rossetti, Liliana C.;
Goodeve, Anne;
Larripa, Irene B.;
De Brasi, Carlos D.

Publication type:

Article