Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 2

Results: 16

BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 171, doi. 10.1002/humu.9110

By:

Hadjisavvas, Andreas;
Charalambous, Elpida;
Adamou, Adamos;
Christodoulou, Christina G.;
Kyriacou, Kyriacos

Publication type:

Article

NF1 gene analysis based on DHPLC.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 171, doi. 10.1002/humu.9111

By:

Luc, Alessandro De;
Buccino, Anna;
Gianni, Debora;
Mangino, Massimo;
Giustini, Sandra;
Richetta, Antonio;
Divona, Luigina;
Calvieri, Stefano;
Mingarelli, Rita;
Dallapiccola, Bruno

Publication type:

Article

High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 116, doi. 10.1002/humu.10161

By:

Andersen, Paal Skytt;
Jespersgaard, Cathrine;
Vuust, Jens;
Christiansen, Michael;
Larsen, Lars Allan

Publication type:

Article

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 151, doi. 10.1002/humu.10165

By:

Scimeca, Jean-Claude;
Quincey, Danielle;
Parrinello, Hugues;
Romatet, Delphine;
Grosgeorge, Josiane;
Gaudray, Patrick;
Philip, Nicole;
Fischer, Alain;
Carle, Georges F.

Publication type:

Article

Comprehensive scanning of the ATM gene with DOVAM-S.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 123, doi. 10.1002/humu.10158

By:

Buzin, Carolyn H.;
Gatti, Richard A.;
Nguyen, Vu Q.;
Wen, Cindy Y.;
Mitui, Midori;
Sanal, Ozden;
Chen, Jie Sheng;
Nozari, Guity;
Mengos, April;
Li, Xuemin;
Fujimura, Frank;
Sommer, Steve S.

Publication type:

Article

Mutations in the CACNA1F and NYX genes in British CSNBX families.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9106

By:

Zito, Ilaria;
Allen, Louise E.;
Patel, Reshma J.;
Meindl, Alfons;
Bradshaw, Keith;
Yates, John R.;
Bird, Alan C.;
Erskine, Lynda;
Cheetham, Michael E.;
Webster, Andrew R.;
Poopalasundaram, Subathra;
Moore, Anthony T.;
Trump, Dorothy;
Hardcastle, Alison J.

Publication type:

Article

Missense mutations in the DNA-binding region and termination codon in PAX6.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 138, doi. 10.1002/humu.10163

By:

Chao, Lian-Yu;
Mishra, Rajnikant;
Strong, Louise C.;
Saunders, Grady F.

Publication type:

Article

Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 172, doi. 10.1002/humu.9112

By:

Boudeau, J.;
Kieloch, A.;
Alessi, D.R.;
Stella, A.;
Guanti, G.;
Resta, N.

Publication type:

Article

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 170, doi. 10.1002/humu.9109

By:

Udar, Nitin;
Yelchits, Svetlana;
Chalukya, Meenal;
Yellore, Vivek;
Nusinowitz, Steve;
Silva-Garcia, Rosamaria;
Vrabec, Tamara;
Hussles Maumenee, Irene;
Donoso, Larry;
Small, Kent W.

Publication type:

Article

Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 158, doi. 10.1002/humu.10166

By:

Auerbach, Arleen D.;
Greenbaum, Jason;
Pujara, Kanan;
Batish, Sat Dev;
Bitencourt, Marco A.;
Kokemohr, Indira;
Schneider, Hildegard;
Lobitzc, Stephan;
Pasquini, Ricardo;
Giampietro, Philip F.;
Hanenberg, Helmut;
Levran, Orna

Publication type:

Article

Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 112, doi. 10.1002/humu.10159

By:

Emmerson, Paul;
Maynard, Julie;
Jones, Siân;
Butler, Rachel;
Sampson, Julian R.;
Cheadle, Jeremy P.

Publication type:

Article

Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9107

By:

Angèle, Sandra;
Laugé, Anthony;
Fernet, Marie;
Moullan, Norman;
Beauvais, Pierre;
Couturier, Jérôme;
Stoppa-Lyonnet, Dominique;
Hall, Janet

Publication type:

Article

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 170, doi. 10.1002/humu.9108

By:

Proukakis, C.;
Auer-Grumbach, M.;
Wagner, K.;
Wilkinson, P.A.;
Reid, E.;
Patton, M.A.;
Warner, T.T.;
Crosby, A.H.

Publication type:

Article

Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technology.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 132, doi. 10.1002/humu.10160

By:

Belli, Carolina;
Brasi, Carlos De;
Larripa, Irene

Publication type:

Article

The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 146, doi. 10.1002/humu.10164

By:

Najmabadi, Hossein;
Neishabury, Maryam;
Sahebjam, Farhad;
Kahrizi, Kimia;
Shafaghati, Yousef;
Nikzat, Nushin;
Jalalvand, Maryam;
Aminy, Farahnaz;
Hashemi, Susan Bany;
Moghimi, Babak;
Noorian, Ali Reza;
Jannati, Ali;
Mohammadi, Mehrdad;
Javan, Khalil

Publication type:

Article

Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency.

Published in:

Human Mutation, 2003, v. 21, n. 2, p. 103, doi. 10.1002/humu.10157

By:

Tezak, Zivana;
Prandini, Paola;
Boscaro, Marco;
Marin, Alessandra;
Devaney, Joseph;
Marino, Michael;
Fanin, Marina;
Trevisan, Carlo P.;
Park, Julie;
Tyson, Weslie;
Finkel, R.;
Garcia, Carlos;
Angelini, Corrado;
Hoffman, Eric P.;
Pegoraro, Elena

Publication type:

Article