Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 1

Results: 19

Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse.

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 9, doi. 10.1002/humu.20060

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 93, doi. 10.1002/humu.20057

By:

Wood, Nigel;
Fraser, Adrian;
Bidwell, Jeffrey;
Standen, Graham

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 104, doi. 10.1002/humu.9256

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 43, doi. 10.1002/humu.20056

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 100, doi. 10.1002/humu.20051

By:

Caligo, Maria Adelaide;
Agata, Simona;
Aceto, Gitana;
Crucianelli, Rosella;
Manoukian, Siranoush;
Peissel, Bernard;
Scaini, Maria Chiara;
Sensi, Elisa;
Veschi, Serena;
Cama, Alessandro;
Radice, Paolo;
Viel, Alessandra;
D'Andrea, Emma;
Montagna, Marco

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 104, doi. 10.1002/humu.9255

By:

Reamon-Buettner, Stella Marie;
Borlak, Juergen

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 102, doi. 10.1002/humu.20073

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 14, doi. 10.1002/humu.20050

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 1, doi. 10.1002/humu.20066

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 76, doi. 10.1002/humu.20059

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 103, doi. 10.1002/humu.9254

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 105, doi. 10.1002/humu.9258

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 21, doi. 10.1002/humu.20055

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 86, doi. 10.1002/humu.20054

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 35, doi. 10.1002/humu.20061

By:

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

Publication type:

Article

Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 52, doi. 10.1002/humu.20058

By:

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

Publication type:

Article

Novel MC1R variants in Ligurian melanoma patients and controls.

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 103, doi. 10.1002/humu.9253

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 63, doi. 10.1002/humu.20069

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 1, p. 104, doi. 10.1002/humu.9257

By:

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

Publication type:

Article