Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 5

Results: 17

Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A

By:

Marlin, Sandrine;
Blanchard, Stéphane;
Slim, Rima;
Lacombe, Didier;
Denoyelle, Françoise;
Alessandri, Jean-Louis;
Calzolari, Elisa;
Drouin-Garraud, Valérie;
Ferraz, F.G.;
Fourmaintraux, Alain;
Philip, Nicole;
Toublanc, Jean-Edmond;
Petit, Christine

Publication type:

Article

A germline mutation in the Von Hippel-Lindau disease gene (L178Q) detected by denaturing gradient gel electrophoresis in a large Jewish-Yemenite family.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU16>3.0.CO;2-N

By:

Jakobovitz-Picard, Orit;
Olchovsky, David;
Nativ, Ofer;
Resnick, Murray B.;
Rechavi, Gideon;
Karasik, Avraham;
Friedman, Eitan

Publication type:

Article

Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 359, doi. 10.1002/(SICI)1098-1004(199911)14:5<359::AID-HUMU1>3.0.CO;2-K

By:

Tuffery-Giraud, Sylvie;
Chambert, Sylvie;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 449, doi. 10.1002/(SICI)1098-1004(199911)14:5<449::AID-HUMU17>3.0.CO;2-H

By:

Bissar-Tadmouri, Nisrine;
Gulsen-Parman, Yesim;
Latour, Philippe;
Deymeer, Feza;
Serdaroglu, Piraye;
Vandenberghe, Antoon;
Battaloglu, Esra

Publication type:

Article

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 423, doi. 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D

By:

Hiriyanna, Kelaginamane T.;
Bingham, Eve L.;
Yashar, Beverly M.;
Ayyagari, Radha;
Fishman, Gerald;
Small, Kent W.;
Weinberg, David V.;
Weleber, Richard G.;
Lewis, Richard A.;
Andreasson, Sten;
Richards, Julia E.;
Sieving, Paul A.

Publication type:

Article

Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1

By:

Halsall, David J.;
Halligan, Eugene P.;
Elsey, Terence S.;
Cox, Timothy M.

Publication type:

Article

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K

By:

Niida, Yo;
Lawrence-Smith, Nicole;
Banwell, Ashleigh;
Hammer, Erica;
Lewis, Janine;
Beauchamp, Roberta L.;
Sims, Katherine;
Ramesh, Vijaya;
Ozelius, Laurie

Publication type:

Article

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU13>3.0.CO;2-Z

By:

Brugnoni, Raffaella;
Galantini, Stefania;
Confalonieri, Paolo;
Balestrini, Maria Rosa;
Cornelio, Ferdinando;
Mantegazza, Renato

Publication type:

Article

Jagged-1 mutation analysis in Italian Alagille syndrome patients.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 394, doi. 10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1

By:

Pilia, Giuseppe;
Uda, Manuela;
Macis, Dolores;
Frau, Fulvia;
Crisponi, Laura;
Balli, Fiorella;
Barbera, Cristiana;
Colombo, Carla;
Frediani, Tullio;
Gatti, Rosanna;
Iorio, Raffaele;
Marazzi, M. Grazia;
Marcellini, Matilde;
Musumeci, Salvatore;
Nebbia, Gabriella;
Vajro, Pietro;
Ruffa, Giuseppe;
Zancan, Lucia;
Cao, Antonio;
DeVirgilis, Stefano

Publication type:

Article

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 428, doi. 10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5

By:

Bénit, Paule;
Kara-Mostefa, Ali;
Hadj-Rabia, Smail;
Munnich, Arnold;
Bonnefont, Jean-Paul

Publication type:

Article

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 440, doi. 10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P

By:

Yuan, Bo;
Thomas, Jeanne P.;
von Kodolitsch, Yskert;
Pyeritz, Reed E.

Publication type:

Article

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q

By:

Lévy, Nicolas;
Bernard-Bronsard, Rafaëlle;
Lossi, Anne-Marie;
Colleaux, Laurence;
Cardoso, Carlos;
Villard, Laurent;
Fontés, Michel

Publication type:

Article

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4

By:

Correa, Catalina López;
Brems, Hilde;
Lázaro, Conxi;
Estivill, Xavier;
Clementi, Maurizio;
Mason, Silvia;
Rutkowski, J. Lynn;
Marynen, Peter;
Legius, Eric

Publication type:

Article

DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: Two novel mutations.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 433, doi. 10.1002/(SICI)1098-1004(199911)14:5<433::AID-HUMU10>3.0.CO;2-K

By:

Aldudo, J.;
Bullido, M.J.;
Valdivieso, F.

Publication type:

Article

A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU14>3.0.CO;2-T

By:

Khoo, A.S.B.;
Balraj, P.;
Rachedi, A.;
Chin, C.N.;
Volpi, L.

Publication type:

Article

Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 401, doi. 10.1002/(SICI)1098-1004(199911)14:5<401::AID-HUMU6>3.0.CO;2-R

By:

Mayer, Karin;
Ballhausen, Wolfgang;
Rott, Hans-Dieter

Publication type:

Article

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 369, doi. 10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E

By:

Schimmenti, Lisa A.;
Shim, Heather H.;
Wirtschafter, Jonathan D.;
Panzarino, Valerie A.;
Kashtan, Clifford E.;
Kirkpatrick, Susan J.;
Wargowski, David S.;
France, Thomas D.;
Michel, Eduard;
Dobyns, William B.

Publication type:

Article