Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 6

Results: 22

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 546, doi. 10.1002/humu.1235

By:

Comeglio, Paolo;
Evans, Alison L.;
Brice, Glen W.;
Child, Anne H.

Publication type:

Article

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 516, doi. 10.1002/humu.1228

By:

Harnevik, Lotta;
Fjellstedt, Erik;
Molbæk, Annette;
Tiselius, Hans-Göran;
Denneberg, Torsten;
Söderkvist, Peter

Publication type:

Article

Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 548, doi. 10.1002/humu.1239

By:

Sokolová, J.;
Janošíková, B.;
Terwilliger, J.D.;
Freiberger, T.;
Kraus, J. P.;
Kozich, V.

Publication type:

Article

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 535, doi. 10.1002/humu.1230

By:

Elanko, Navaratnam;
Sibbring, Julie S.;
Metcalfe, Kay A.;
Clayton-Smith, Jill;
Donnai, Dian;
Temple, I. Karen;
Wall, Steven A.;
Wilkie, Andrew O.M.

Publication type:

Article

Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 ( NF1) gene.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 549, doi. 10.1002/humu.1241

By:

Fang, Li Juan;
Vidaud, Dominique;
Vidaud, Michel;
Thirion, Jean-Paul

Publication type:

Article

In memoriam.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 461, doi. 10.1002/humu.1223

By:

Kazazian, Haig H.;
Cotton, Richard G. H.

Publication type:

Article

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 546, doi. 10.1002/humu.1234

By:

Bogdanova, Nadja;
Lemcke, Beate;
Markoff, Arseni;
Pollmann, Hartmut;
Dworniczak, Bernd;
Eigel, Antonin;
Horst, Jürgen

Publication type:

Article

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 499, doi. 10.1002/humu.1227

By:

Kemp, Stephan;
Pujol, Aurora;
Waterham, Hans R.;
van Geel, Björn M.;
Boehm, Corinne D.;
Raymond, Gerald V.;
Cutting, Garry R.;
Wanders, Ronald J.A.;
Moser, Hugo W.

Publication type:

Article

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 548, doi. 10.1002/humu.1238

By:

López-Bigas, N.;
Melchionda, S.;
de Cid, R.;
Grifa, A.;
Zelante, L.;
Govea, N.;
Arbonés, M.L.;
Gasparini, P.;
Estivill, X.

Publication type:

Article

Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 549, doi. 10.1002/humu.1240

By:

Godino, Javier;
de la Hoya, Miguel;
Diaz-Rubio, Eduardo;
Benito, Manuel;
Caldés, Trinidad

Publication type:

Article

Absence of deafness-associated connexin-26 ( GJB2) gene mutations in the Omani population.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 545, doi. 10.1002/humu.1233

By:

Simsek, Mehmet;
Al-Wardy, Nadia;
Al-Khayat, Aisha;
Shanmugakonar, Muralitharan;
Al-Bulushi, Talal;
Al-Khabory, Mazin;
Al-Mujeni, Sheikha;
Al-Harthi, Samia

Publication type:

Article

Erratum: A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 552, doi. 10.1002/humu.1244

By:

Sironi, M.;
Corti, S.;
Locatelli, F.;
Cagliani, R.;
Comi, G.P.

Publication type:

Article

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 488, doi. 10.1002/humu.1226

By:

Rivolta, Carlo;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Erratum: Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 547, doi. 10.1002/humu.1237

By:

Kamarinos, Maria;
McGill, Jim;
Lynch, Michael;
Dahl, Henrik

Publication type:

Article

Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 545, doi. 10.1002/humu.1232

By:

Machackova, Eva;
Damborsky, Jiri;
Valik, Dalibor;
Foretova, Lenka

Publication type:

Article

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 550, doi. 10.1002/humu.1243

By:

Rivolta, Carlo;
Peck, Naomi E.;
Fulton, Anne B.;
Fishman, Gerald A.;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 472, doi. 10.1002/humu.1225

By:

Phelan, James K.;
Mccabe, Edward R.B.

Publication type:

Article

Spontaneous and MNNG-induced reversion of an EGFP construct in HeLa cells: An assay for observing mutations in living cells by fluorescent microscopy.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 526, doi. 10.1002/humu.1229

By:

Gemignani, Federica;
Landi, Stefano;
DeMarini, David M.;
Kole, Ryszard

Publication type:

Article

Mutation detection 2001: Sixth international symposium on mutations in the human genome, May 3-7, 2001, Bled, Slovenia.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 542, doi. 10.1002/humu.1231

By:

Cotton, Richard G.H.;
Glavac, Damjan

Publication type:

Article

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 550, doi. 10.1002/humu.1242

By:

Hutter, P.;
Rey-Berthod, C.;
Chappuis, P.O.;
Couturier, A.;
Membrez, V.;
Murphy, A.;
Joris, F.;
Schorderet, D. F.;
Delozier-Blanchet, C.;
Soravia, C.

Publication type:

Article

Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 462, doi. 10.1002/humu.1224

By:

Indo, Yasuhiro

Publication type:

Article

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 547, doi. 10.1002/humu.1236

By:

Zhang, Yao-Hua;
Huang, Bing-Ling;
Anyane-Yeboa, Kwame;
Carvalho, Julienne A.R.;
Clemons, Robert D.;
Cole, Trevor;
De Figueiredo, Bonald C.;
Lubinsky, Mark;
Metzger, Daniel L.;
Quadrelli, Roberto;
Repaske, David R.;
Reyno, Soraya;
Seaver, Laurie H.;
Vaglio, Alicia;
Van Vliet, Guy;
McCabe, Linda L.;
McCabe, Edward R.B.;
Phelan, James K.

Publication type:

Article