Volume 24; Issue 1

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Human Mutation
Volume 24; Issue 1

Human Mutation

Volume 24; Issue 1

1

Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia

Sally Plummer, Clare Tower, Pedro Alonso, Linda Morgan, Phil Baker, Fiona Broughton-Pipkin, Noor Kalsheker

Journal:

Year:

2004

Language:

english

File:

PDF, 142 KB

english, 2004

2

The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy

Maria Adelaide Caligo, Simona Agata, Gitana Aceto, Rosella Crucianelli, Siranoush Manoukian, Bernard Peissel, Maria Chiara Scaini, Elisa Sensi, Serena Veschi, Alessandro Cama, Paolo Radice, Alessandra

Journal:

Year:

2004

Language:

english

File:

PDF, 81 KB

english, 2004

3

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Bert Bakker, Martijn H. Breuning, Johan T. den Dunnen

Journal:

Year:

2004

Language:

english

File:

PDF, 202 KB

english, 2004

4

Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma

Yun Wang, Pedro Kringen, Gunnar B. Kristensen, Ruth Holm, Mark M.O. Baekelandt, Magali Olivier, Hanne Skomedal, Pierre Hainaut, Claes G. Tropé, Vera M. Abeler, Jahn M. Nesland, Anne-Lise Børresen-Dale

Journal:

Year:

2004

Language:

english

File:

PDF, 522 KB

english, 2004

5

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent, Véronique David

Journal:

Year:

2004

Language:

english

File:

PDF, 225 KB

english, 2004

6

RT-PCR permits simultaneous genotyping of thiopurine S-methyltransferase allelic variants by multiplex induced heteroduplex analysis

Nigel Wood, Adrian Fraser, Jeffrey Bidwell, Graham Standen

Journal:

Year:

2004

Language:

english

File:

PDF, 213 KB

english, 2004

7

Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?

M. Fanin, L. Fulizio, A.C. Nascimbeni, M. Spinazzi, G. Piluso, V.M. Ventriglia, G. Ruzza, G. Siciliano, C.P. Trevisan, L. Politano, V. Nigro, C. Angelini

Journal:

Year:

2004

Language:

english

File:

PDF, 260 KB

english, 2004

8

Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray

Rosemary Ekong, Steve Jeremiah, David Judah, Ordan Lehmann, Farideh Mirzayans, Ying-Chun Hung, Michael A. Walter, Shomi Bhattacharya, Timothy W. Gant, Sue Povey, Jonathan Wolfe

Journal:

Year:

2004

Language:

english

File:

PDF, 261 KB

english, 2004

9

Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse

Nicolas Gilbert, Jamee M. Bomar, Margit Burmeister, John V. Moran

Journal:

Year:

2004

Language:

english

File:

PDF, 257 KB

english, 2004

10

Functional analysis of polymorphisms in the promoter regions of genes on 22q11

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

Journal:

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

11

DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applications

David Fredman, M. Jobs, L. Strömqvist, A.J. Brookes

Journal:

Year:

2004

Language:

english

File:

PDF, 145 KB

english, 2004

12

Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors

Reyna Favis, Jianmin Huang, Norman P. Gerry, Alfred Culliford, Philip Paty, Thierry Soussi, Francis Barany

Journal:

Year:

2004

Language:

english

File:

PDF, 582 KB

english, 2004

13

The androgen receptor gene mutations database (ARDB): 2004 update

Bruce Gottlieb, Lenore K. Beitel, Jian Hui Wu, Mark Trifiro

Journal:

Year:

2004

Language:

english

File:

PDF, 51 KB

english, 2004

14

Novel MC1R variants in Ligurian melanoma patients and controls

Lorenza Pastorino, Roberto Cusano, William Bruno, Francesca Lantieri, Paola Origone, Monica Barile, Sara Gliori, Graeme A. Shepherd, Richard A. Sturm, Giovanna Bianchi Scarra

Journal:

Year:

2004

Language:

english

File:

PDF, 1.87 MB

english, 2004

15

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families

Jörg Fiedler, Martine Le Merrer, Geert Mortier, Solange Heuertz, Laurence Faivre, Rolf E. Brenner

Journal:

Year:

2004

Language:

english

File:

PDF, 2.13 MB

english, 2004

16

TBX5 mutations in Non-Holt-Oram Syndrome (HOS) malformed hearts

Stella Marie Reamon-Buettner, Juergen Borlak

Journal:

Year:

2004

Language:

english

File:

PDF, 39 KB

english, 2004

17

A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes

Frédéric Leprêtre, Francis Vasseur, Martine Vaxillaire, Philipp E. Scherer, Saira Ali, Kenneth Linton, Timothy Aitman, Philippe Froguel

Journal:

Year:

2004

Language:

english

File:

PDF, 2.74 MB

english, 2004

18

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate

F. Pezzetti, M. Martinelli, L. Scapoli, F. Carinci, A. Palmieri, J. Marchesini, P. Carinci, E. Caramelli, R. Rullo, F. Gombos, M. Tognon

Journal:

Year:

2004

Language:

english

File:

PDF, 37 KB

english, 2004

19

Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

V. Ricci, M. Stroppiano, F. Corsolini, M. Di Rocco, G. Parenti, S. Regis, S. Grossi, R. Biancheri, R. Mazzotti, M. Filocamo

Journal:

Year:

2004

Language:

english

File:

PDF, 35 KB

english, 2004