Volume 22; Issue 4

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Human Mutation
Volume 22; Issue 4

Human Mutation

Volume 22; Issue 4

1

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1

Walter D. Park, John F. O'Brien, Patrick A. Lundquist, Daniel L. Kraft, Cate Walsh Vockley, Pamela S. Karnes, Marc C. Patterson, Karen Snow

Journal:

Year:

2003

Language:

english

File:

PDF, 255 KB

english, 2003

2

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Kim Cryns, Theru A. Sivakumaran, Jody M.W. Van den Ouweland, Ronald J.E. Pennings, Cor W.R.J. Cremers, Kris Flothmann, Terry-Lynn Young, Richard J.H. Smith, Marci M. Lesperance, Guy Van Camp

Journal:

Year:

2003

Language:

english

File:

PDF, 490 KB

english, 2003

3

Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders

Journal:

Year:

2003

Language:

english

File:

PDF, 355 KB

english, 2003

4

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

Orland Díez, Ana Osorio, Mercedes Durán, José Ignacio Martinez-Ferrandis, Miguel de la Hoya, Raquel Salazar, Ana Vega, Berta Campos, Raquel Rodríguez-López, Eladio Velasco, Javier Chaves, Eduardo Díaz

Journal:

Year:

2003

Language:

english

File:

PDF, 196 KB

english, 2003

5

MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency

P.J. Wightman, R. Santer, A. Ribes, F. Dougherty, N. McGill, D.R. Thorburn, D.R. FitzPatrick

Journal:

Year:

2003

Language:

english

File:

PDF, 10.28 MB

english, 2003

6

Rapid detection of β-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC

Yi-Ning Su, Chien-Nan Lee, Chia-Cheng Hung, Chi-An Chen, Wen-Fang Cheng, Po-Nien Tsao, Chia-Li Yu, Fon-Jou Hsieh

Journal:

Year:

2003

Language:

english

File:

PDF, 314 KB

english, 2003

7

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain

Berta Campos, Orland Díez, Montserrat Domènech, Manel Baena, Judith Balmaña, Judit Sanz, Amaya Ramírez, Carmen Alonso, Montserrat Baiget

Journal:

Year:

2003

Language:

english

File:

PDF, 122 KB

english, 2003

8

Mutational analysis of the AGL gene: Five novel mutations in GSD III patients

S. Lucchiari, M.A. Donati, D. Melis, M. Filocamo, R. Parini, N. Bresolin, G.P. Comi

Journal:

Year:

2003

Language:

english

File:

PDF, 71 KB

english, 2003

9

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica

Sébastien Küry, Monia Kharfi, Ridha Kamoun, Alain Taïeb, Eric Mallet, Jean-Jacques Baudon, Catherine Glastre, Bruno Michel, Francis Sebag, David Brooks, Volker Schuster, Catherine Scoul, Brigitte Drén

Journal:

Year:

2003

Language:

english

File:

PDF, 152 KB

english, 2003

10

Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young

Vilma Mantovani, Silvana Salardi, Vincenzo Cerreta, Daniela Bastia, Marinella Cenci, Luca Ragni, Stefano Zucchini, Raffaele Parente, Alessandro Cicognani

Journal:

Year:

2003

Language:

english

File:

PDF, 35 KB

english, 2003

11

Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant

Maria Savino, Adriana Borriello, Maria d'Apolito, Maria Criscuolo, Maria Del Vecchio, Anna Monica Bianco, Michele Di Perna, Rita Calzone, Bruno Nobili, Adriana Zatterale, Leopoldo Zelante, Hans Joenje

Journal:

Year:

2003

Language:

english

File:

PDF, 136 KB

english, 2003

12

Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations

Velamakanni Saroj Kiran, Chitra Kannabiran, Kalyana Chakravarthi, Geeta K. Vemuganti, Santosh G. Honavar

Journal:

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

13

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever

Dimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, Andrée Delahaye, Florence Niel, Serge Amselem

Journal:

Year:

2003

Language:

english

File:

PDF, 28 KB

english, 2003

14

CFTR genotypes in patients with normal or borderline sweat chloride levels

Delphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Marie Desgeorges, Mireille Claustres, Hervé Mittre, Martine Blayau, Dominique Bozon, Marie-Claire Malinge, Nicol

Journal:

Year:

2003

Language:

english

File:

PDF, 40 KB

english, 2003

15

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions

S. Funghini, M.A. Donati, E. Pasquini, E. Zammarchi, A. Morrone

Journal:

Year:

2003

Language:

english

File:

PDF, 52 KB

english, 2003

16

Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

Paola Origone, Carlo Bellini, Debora Sambarino, Barbara Banelli, Guido Morcaldi, Carmen La Rosa, Franco Stanzial, Claudio Castellan, Domenico A. Coviello, Cecilia Garrè, Eugenio Bonioli

Journal:

Year:

2003

File:

PDF, 10 KB

2003

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