Volume 26; Issue 3

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Human Mutation
Volume 26; Issue 3

Human Mutation

Volume 26; Issue 3

1

Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci

Unkyung Kim, Stephen Wooding, Dante Ricci, Lynn B. Jorde, Dennis Drayna

Journal:

Year:

2005

Language:

english

File:

PDF, 165 KB

english, 2005

2

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6

Sara Miksch, Amanda Lumsden, Ulf P. Guenther, Dorothee Foernzler, Stéphanie Christen-Zäch, Carol Daugherty, Raj Kumar S. Ramesar, Mark Lebwohl, Daniel Hohl, Kenneth H. Neldner, Klaus Lindpaintner, Rob

Journal:

Year:

2005

Language:

english

File:

PDF, 780 KB

english, 2005

3

Strong bias in the location of functional promoter polymorphisms

Paul R. Buckland, Bastiaan Hoogendoorn, Sharon L. Coleman, Carol A. Guy, S. Kaye Smith, Michael C. O'Donovan

Journal:

Year:

2005

Language:

english

File:

PDF, 233 KB

english, 2005

4

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A

Nadja Bogdanova, Arseni Markoff, Hartmut Pollmann, Ulrike Nowak-Göttl, Roswith Eisert, Cornelia Wermes, Albena Todorova, Antonin Eigel, Bernd Dworniczak, Jürgen Horst

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Year:

2005

Language:

english

File:

PDF, 168 KB

english, 2005

5

Scanning of genetic effects of alcohol metabolism gene (ADH1B and ADH1C) polymorphisms on the risk of alcoholism

Ihn-Geun Choi, Hyun-Gyun Son, Byung-Hwan Yang, Seok Hyeon Kim, Jun-Suk Lee, Young-Gyu Chai, Bong Ki Son, Baik Seok Kee, Byung Lae Park, Lyoung Hyo Kim, Yoo Hyun Choi, Hyoung Doo Shin

Journal:

Year:

2005

Language:

english

File:

PDF, 353 KB

english, 2005

6

UMD (Universal Mutation Database): 2005 update

Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Mireille Claustres

Journal:

Year:

2005

Language:

english

File:

PDF, 367 KB

english, 2005

7

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders

Denis I. Crane, Megan A. Maxwell, Barbara C. Paton

Journal:

Year:

2005

Language:

english

File:

PDF, 211 KB

english, 2005

8

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

Edward V. Ball, Peter D. Stenson, Shaun S. Abeysinghe, Michael Krawczak, David N. Cooper, Nadia A. Chuzhanova

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Year:

2005

Language:

english

File:

PDF, 179 KB

english, 2005

9

Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex™ whole genome amplified DNA generated from multiple DNA sources

Andrew W. Bergen, Kashif A. Haque, Ying Qi, Michael B. Beerman, Montserrat Garcia-Closas, Nathaniel Rothman, Stephen J. Chanock

Journal:

Year:

2005

Language:

english

File:

PDF, 170 KB

english, 2005

10

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools

Rebecca E. Saunders, Niamh M. O'Connell, Christine A. Lee, David J. Perry, Stephen J. Perkins

Journal:

Year:

2005

Language:

english

File:

PDF, 317 KB

english, 2005

11

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

Jürgen Kohlhase, David Chitayat, Dieter Kotzot, Serdar Ceylaner, Ursula G. Froster, Sigrun Fuchs, Tara Montgomery, Bernd Rösler

Journal:

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

12

The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

Françoise Charbonnier, Stephanie Baert-Desurmont, Ping Liang, Frederic Di Fiore, Cosette Martin, Stephanie Frerot, Sylviane Olschwang, Qing Wang, Marie-Pierre Buisine, Brigitte Gilbert, Mef Nilbert, A

Journal:

Year:

2005

Language:

english

File:

PDF, 700 KB

english, 2005

13

Gaucher mutation N188S is associated with myoclonic epilepsy

Laurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, Mary E. LaMarca, Leah Kinlaw, Raphael Schiffmann, Andreas D. Baxevanis, Ellen Sidransky

Journal:

Year:

2005

Language:

english

File:

PDF, 91 KB

english, 2005

14

A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy

Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

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Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

15

Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and “modifier” polymorphisms

Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

16

LDL-receptor mutations in Europe

Janine Genschel, George V.Z. Dedoussis, Hartmut H.-J. Schmidt

Journal:

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

17

Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms

Megan A. Maxwell, Pamela B. Leane, Barbara C. Paton, Denis I. Crane

Journal:

Year:

2005

Language:

english

File:

PDF, 113 KB

english, 2005

18

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures

Angela M. Kaindl, Sibylle Jakubiczka, Thomas Lücke, Oliver Bartsch, Joachim Weis, Gisela Stoltenburg-Didinger, Fuat Aksu, Konrad Oexle, Katrin Koehler, Angela Huebner

Journal:

Year:

2005

Language:

english

File:

PDF, 237 KB

english, 2005

19

Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry

D.W. Cox, L. Prat, J.M. Walshe, J. Heathcote, D. Gaffney

Journal:

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

20

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

Elena Pedrini, Alessandro De Luca, Enza Maria Valente, Veronica Maini, Silvia Capponcelli, Marina Mordenti, Rita Mingarelli, Luca Sangiorgi, Bruno Dallapiccola

Journal:

Year:

2005

Language:

english

File:

PDF, 162 KB

english, 2005

21

Mutation spectrum of the APC gene in 83 Korean FAP families

Duck-Woo Kim, Il-Jin Kim, Hio Chung Kang, Hye-Won Park, Yong Shin, Jae-Hyun Park, Sang-Geun Jang, Byong Chul Yoo, Min Ro Lee, Chang Won Hong, Kyu Joo Park, Nahm-Gun Oh, Nam Kyu Kim, Moo Kyung Sung, Bo

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Year:

2005

Language:

english

File:

PDF, 257 KB

english, 2005

22

ATP1A2 mutations in 11 families with familial hemiplegic migraine

Florence Riant, Maurizio De Fusco, Paolo Aridon, Anne Ducros, Claire Ploton, Florence Marchelli, Jacqueline Maciazek, Marie Germaine Bousser, Giorgio Casari, Elisabeth Tournier-Lasserve

Journal:

Year:

2005

Language:

english

File:

PDF, 497 KB

english, 2005

23

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Elke M. Botzenhart, Andrew Green, Helena Ilyina, Rainer König, R. Brian Lowry, Ivan F. M. Lo, Mordechai Shohat, Leah Burke, Julie McGaughran, Ronit Chafai, Geneviève Pierquin, Ron C Michaelis, Margo L

Journal:

Year:

2005

Language:

english

File:

PDF, 148 KB

english, 2005

24

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles

Anna Lisa E. Montalvo, Mirella Filocamo, Kristian Vlahoviček, Andrea Dardis, Susanna Lualdi, Fabio Corsolini, Bruno Bembi, Maria Gabriela Pittis

Journal:

Year:

2005

Language:

english

File:

PDF, 890 KB

english, 2005

25

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

Rachele Cagliani, Francesca Magri, Antonio Toscano, Luciano Merlini, Francesco Fortunato, Costanza Lamperti, Carmelo Rodolico, Alessandro Prelle, Manuela Sironi, Mohammed Aguennouz, Patrizia Ciscato,

Journal:

Year:

2005

Language:

english

File:

PDF, 308 KB

english, 2005

26

DHPLC Analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain

A. Marsh, C. Wicking, B. Wainwright, G. Chenevix-Trench

Journal:

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

27

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

Erik Teugels, Sylvia De Brakeleer, Guido Goelen, Willy Lissens, Erica Sermijn, Jacques De Grève

Journal:

Year:

2005

Language:

english

File:

PDF, 342 KB

english, 2005

28

Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PDUnion and G6PDAndalus

Xiao-Tao Wang, Veronica M.S. Lam, Paul C. Engel

Journal:

Year:

2005

Language:

english

File:

PDF, 171 KB

english, 2005