Volume 24; Issue 5

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Human Mutation
Volume 24; Issue 5

Human Mutation

Volume 24; Issue 5

1

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 341 KB

english, 2004

2

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 235 KB

english, 2004

3

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

4

CRB1 mutation spectrum in inherited retinal dystrophies

Anneke I. den Hollander, Jason Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively,

Journal:

Year:

2004

Language:

english

File:

PDF, 351 KB

english, 2004

5

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

Daniela Perotti, Giovanna De Vecchi, Maria A. Testi, Elena Lualdi, Piergiorgio Modena, Patrizia Mondini, Fernando Ravagnani, Paola Collini, Francesca Di Renzo, Filippo Spreafico, Monica Terenziani, Ga

Journal:

Year:

2004

Language:

english

File:

PDF, 201 KB

english, 2004

6

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

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

Journal:

Year:

2004

Language:

english

File:

PDF, 390 KB

english, 2004

7

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 185 KB

english, 2004

8

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 514 KB

english, 2004

9

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 58 KB

english, 2004

10

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

Catherine Gallou, Dominique Chauveau, Stéphane Richard, Dominique Joly, Sophie Giraud, Sylviane Olschwang, Natacha Martin, Céline Saquet, Yves Chrétien, Arnaud Méjean, Jean-Michel Correas, Gérard Beno

Journal:

Year:

2004

Language:

english

File:

PDF, 141 KB

english, 2004

11

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 440 KB

english, 2004

12

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 180 KB

english, 2004

13

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

Alan F. Wright, Adam C. Reddick, Sharon B. Schwartz, Julie S. Ferguson, Tomas S. Aleman, Ulrich Kellner, Bernhard Jurklies, Andreas Schuster, Eberhart Zrenner, Bernd Wissinger, Alan Lennon, Xinhua Shu

Journal:

Year:

2004

Language:

english

File:

PDF, 429 KB

english, 2004

14

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 304 KB

english, 2004

15

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 406 KB

english, 2004

16

Homeologous recombination between AluSx-sequences as a cause of hemophilia

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

Journal:

Year:

2004

Language:

english

File:

PDF, 136 KB

english, 2004

17

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

Maria Savino, Maria d'Apolito, Vincenza Formica, Filomena Baorda, Francesca Mari, Alessandra Renieri, Enrico Carabba, Enrico Tarantino, Elena Andreucci, Serena Belli, Lorenzo Lo Muzio, Bruno Dallapicc

Journal:

Year:

2004

Language:

english

File:

PDF, 57 KB

english, 2004

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