Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 3

Results: 24

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 234, doi. 10.1002/humu.9058

By:

Filocamo, Mirella;
Mazzotti, Raffaella;
Stroppiano, Marina;
Seri, Marco;
Giona, Fiorina;
Parenti, Giancarlo;
Regis, Stefano;
Corsolini, Fabio;
Zoboli, Stefania;
Gatti, Rosanna

Publication type:

Article

Population genetic implications from DNA polymorphism in random human genomic sequences.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 209, doi. 10.1002/humu.10117

By:

Shen, Peidong;
Buchholz, Molly;
Sung, Raphael;
Roxas, Adriane;
Franco, Claudia;
Yang, Wei-Hsien;
Jagadeesan, Raja;
Davis, Karen;
Oefner, Peter J.

Publication type:

Article

Third international meeting on the genetic epidemiology of complex traits, April 4-6, 2002, Cambridge, UK.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 227, doi. 10.1002/humu.10120

By:

John, Sally;
Jenkins, Suzanne

Publication type:

Article

Human piebaldism: six novel mutations of the proto-oncogene KIT.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 234, doi. 10.1002/humu.9057

By:

Syrris, Petros;
Heathcote, Kirsten;
Carrozzo, Romeo;
Devriendt, Koen;
Elçioglu, Nursel;
Garrett, Christine;
McEntagart, Meriel;
Carter, Nicholas D.

Publication type:

Article

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 197, doi. 10.1002/humu.10112

By:

Katzke, Stefanie;
Booms, Patrick;
Tiecke, Frank;
Palz, Monika;
Pletschacher, Angelika;
Türkmen, Seval;
Neumann, Luitgard M.;
Pregla, Reinhard;
Leitner, Christa;
Schramm, Cornelia;
Lorenz, Peter;
Hagemeier, Christian;
Fuchs, Josefine;
Skovby, Flemming;
Rosenberg, Thomas;
Robinson, Peter N.

Publication type:

Article

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 232, doi. 10.1002/humu.9053

By:

Tang, Nelson L.S.;
Hwu, W.L.;
Chan, Rachel T.;
Law, L.K.;
Fung, L.M.;
Zhang, W.M.

Publication type:

Article

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 153, doi. 10.1002/humu.10113

By:

Robinson, Peter N.;
Booms, Patrick;
Katzke, Stefanie;
Ladewig, Markus;
Neumann, Luitgard;
Palz, Monika;
Pregla, Reinhard;
Tiecke, Frank;
Rosenberg, Thomas

Publication type:

Article

Identification of seven novel mutations of F8C by DHPLC.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 231, doi. 10.1002/humu.9052

By:

Frusconi, Sabrina;
Passerini, Ilaria;
Girolami, Francesca;
Masieri, Maddalena;
Linari, Silvia;
Longo, Giovanni;
Morfini, Massimo;
Torricelli, Francesca

Publication type:

Article

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 237, doi. 10.1002/humu.9063

By:

Kiehntopf, Michael;
Schickel, Jörg;
Gönne, Bärbel von der;
Koch, Hans Georg;
Superti-Furga, Andrea;
Steinmann, Beat;
Deufel, Thomas;
Harms, Erik

Publication type:

Article

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 235, doi. 10.1002/humu.9060

By:

Tani, Sergio Massayuki;
Wang, Yue;
Kanegane, Hirokazu;
Futatani, Takeshi;
Pinto, Jorge;
Vilela, Maria Marluce dos Santos;
Miyawaki, Toshio

Publication type:

Article

Analysis of the PTCH coding region in human rhabdomyosarcoma.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 233, doi. 10.1002/humu.9056

By:

Calzada-Wack, Julia;
Schnitzbauer, Udo;
Walch, Axel;
Wurster, Karl-Heinz;
Kappler, Roland;
Nathrath, Michaela;
Hahn, Heidi

Publication type:

Article

Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 230, doi. 10.1002/humu.9049

By:

Patmasiriwat, Pimpicha;
Bhothisuwan, Kris;
Sinilnikova, Olga M.;
Chopin, Sandrine;
Methakijvaroon, Suthida;
Badzioch, Michael;
Padungsutt, Puchong;
Vattanaviboon, Phantip;
Vattanasapt, Vanchai;
Szabo, Csilla;
Saunders, Grady F.;
Goldgar, David;
Lenoir, Gilbert M.

Publication type:

Article

Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 235, doi. 10.1002/humu.9059

By:

Kang, Hio Chung;
Kim, Il-Jin;
Park, Jae-Hyun;
Kwon, Hyuk-Jun;
Won, Yong-Jin;
Heo, Seung Chul;
Lee, Sang-Yon;
Kim, Kyung-Hee;
Shin, Yong;
Noh, Dong Young;
Yang, Dae-Hyun;
Choe, Kuk Jin;
Lee, Bong Hwa;
King, Soon Beom;
Park, Jae-Gahb

Publication type:

Article

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 218, doi. 10.1002/humu.10108

By:

Casilli, Federica;
Di Rocco, Zorika Christiana;
Gad, Sophie;
Tournier, Isabelle;
Stoppa-Lyonnet, Dominique;
Frebourg, Thierry;
Tosi, Mario

Publication type:

Article

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 231, doi. 10.1002/humu.9051

By:

Venturi, N.;
Rovelli, A.;
Parini, R.;
Menni, F.;
Brambillasca, F.;
Bertagnolio, F.;
Uziel, G.;
Gatti, R.;
Filocamo, M.;
Donati, M.A.;
Biondi, A.;
Goldwurm, S.

Publication type:

Article

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9061

By:

van der Hout, Annemarie H.;
Verlind, Edwin;
Beemer, Frits A.;
Buys, Charles H.C.M.;
Hofstra, Robert M.W.;
Scheffer, Hans

Publication type:

Article

Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Δ2642 (E2642del) polymorphisms.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 233, doi. 10.1002/humu.9055

By:

Hećimović, Silva;
Klepac, Nataša;
Vlašić, Jelena;
Vojta, Aleksandar;
Janko, Dolores;
Škarpa-Prpić, Ingrid;
Canki-Klain, Nina;
Marković, Dubravko;
Božikov, Jadranka;
Relja, Maja;
Pavelić, Krešimir

Publication type:

Article

SNP databases and pharmacogenetics: great start, but a long way to go.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 174, doi. 10.1002/humu.10115

By:

Marsh, Sharon;
Kwok, Pui;
McLeod, Howard L.

Publication type:

Article

Mutational analysis of patients with the diagnosis of choroideremia.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 189, doi. 10.1002/humu.10114

By:

McTaggart, Kerry E.;
Tran, Mai;
Mah, Dean Y.;
Lai, Sarah W.;
Nesslinger, Nancy J.;
MacDonald, Ian M.

Publication type:

Article

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 180, doi. 10.1002/humu.10084

By:

Arranz, J.A.;
Piñol, F.;
Kozak, L.;
Pérez-Cerdá, C.;
Cormand, B.;
Ugarte, M.;
Riudor, E.

Publication type:

Article

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9062

By:

Bogdanova, Nadja;
Markoff, Arseni;
Pollmann, Hartmut;
Nowak-Göttl, Ulrike;
Eisert, Roswith;
Dworniczak, Bernd;
Eigel, Antonin;
Horst, Jürgen

Publication type:

Article

Data mining of public SNP databases for the selection of intragenic SNPs.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 162, doi. 10.1002/humu.10107

By:

Aerts, Jan;
Wetzels, Yves;
Cohen, Nadine;
Aerssens, Jeroen

Publication type:

Article

Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 230, doi. 10.1002/humu.9050

By:

Monney, Carole T.;
Kaltenrieder, Valérie;
Cousin, Pascal;
Bonny, Christophe;
Schorderet, Daniel F.

Publication type:

Article

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 232, doi. 10.1002/humu.9054

By:

Chan, Lisa Y.S.;
Lam, Ching-Wan;
Mak, Ying-Tat;
Tomlinson, Brian;
Tsang, Man-Woo;
Baum, Larry;
Masarei, John R.L.;
Pang, Chi-Pui

Publication type:

Article