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
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 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
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
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
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
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
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
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
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
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
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
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
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