Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 5

Results: 20

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 433, doi. 10.1002/humu.1122

By:

Liguori, Rosario;
Bianco, Anna Monica;
Argiriou, Anagnostis;
Pauciullo, Paolo;
Giannino, Alessandro;
Rubba, Paolo;
De Simone, Vincenzo

Publication type:

Article

Clinical spectrum of fibroblast growth factor receptor mutations; M.R. Passos-Bueno, W.R. Wilcox, E.W. Jabs, A.L. Sertié, L.G. Alonso, and H. Kitoh; (Article was originally published in Human Mutation 14:115-125, 1999).

Published in:: Human Mutation, 2001, v. 17, n. 5, p. 431, doi. 10.1002/humu.1119
Publication type:: Article

A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 437, doi. 10.1002/humu.1128

By:

Álvarez-Rodríguez, Adriana;
Triggs-Raine, Barbara;
Barros-Núñez, Patricio;
Lozano, Claudina Medina

Publication type:

Article

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 368, doi. 10.1002/humu.1111

By:

Beltcheva, Olga;
Martin, Paula;
Lenkkeri, Ulla;
Tryggvason, Karl

Publication type:

Article

Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 433, doi. 10.1002/humu.1123

By:

Shah, Zahid H.;
Toompuu, Marina;
Hakkinen, Terhi;
Rovio, Anja T.;
van Ravenswaay, Conny;
De Leenheer, Els M.R.;
Smith, Richard J.H.;
Cremers, Frans P.M.;
Cremers, Cor W.R.J.;
Jacobs, Howard T.

Publication type:

Article

Pendred syndrome, DFNB4, and PDS/ SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 403, doi. 10.1002/humu.1116

By:

Campbell, Colleen;
Cucci, Robert A.;
Prasad, Sai;
Green, Glenn E.;
Edeal, J. Bradley;
Galer, Chad E.;
Karniski, Lawrence P.;
Sheffield, Val C.;
Smith, Richard J.H.

Publication type:

Article

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 436, doi. 10.1002/humu.1127

By:

Baum, Larry;
Chan, Wai-Man;
Yeung, Kwun-Yan;
Lam, Dennis S.C.;
Kwok, Alvin K.H.;
Pang, Chi-Pui

Publication type:

Article

Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 397, doi. 10.1002/humu.1115

By:

Bargal, Ruth;
Avidan, Nili;
Olender, Tzvia;
Ben Asher, Edna;
Zeigler, Marcia;
Raas-Rothschild, Annick;
Frumkin, Ayala;
Ben-Yoseph, Omer;
Friedlender, Yechiel;
Lancet, Doron;
Bach, Gideon

Publication type:

Article

Identification of four novel polymorphisms in the calcitonin/α-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 435, doi. 10.1002/humu.1126

By:

Buervenich, Silvia;
Xiang, Fengqing;
Sydow, Olof;
Jönsson, Erik G.;
Sedvall, Göran C.;
Anvret, Maria;
Olson, Lars

Publication type:

Article

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 357, doi. 10.1002/humu.1110

By:

Khanim, Farhat;
Kirk, Jeremy;
Latif, Farida;
Barrett, Timothy G.

Publication type:

Article

Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 432, doi. 10.1002/humu.1121

By:

Miltiadous, George;
Elisaf, Moses;
Bairaktari, Helen;
Xenophontos, Stavroulla L.;
Manoli, Panayiotis;
Cariolou, Marios A.

Publication type:

Article

Nine novel APC mutations in Italian FAP patients.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 434, doi. 10.1002/humu.1125

By:

Resta, N.;
Stella, A.;
Susca, F.;
Montera, M.;
Gentile, M.;
Cariola, F.;
Prete, F.;
Tenconi, R.;
Tibiletti, M.G.;
Logrieco, G.;
Mattina, T.;
Andriulli, G.;
Caruso, M.L.;
Fiorente, P.;
Russo, S.;
Caputi-Jambrenghi, O.;
Mareni, C.;
Guanti, G.

Publication type:

Article

Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 389, doi. 10.1002/humu.1114

By:

Lipkin, Steven M.;
Wang, Victoria;
Stoler, Dan L.;
Anderson, Garth R.;
Kirsch, Ilan;
Hadley, Don;
Lynch, Henry T.;
Collins, Francis S.

Publication type:

Article

A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 423, doi. 10.1002/humu.1118

By:

Baumer, Alessandra;
Wiedemann, Ute;
Hergersberg, Martin;
Schinzel, Albert

Publication type:

Article

Five novel single nucleotide polymorphisms of the RB1 gene (g.5625T>C, g.70169T>G, g.76875A>T, g.78026delA, and g.150072T>C) in retinoblastoma patients.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 437, doi. 10.1002/humu.1129

By:

Alonso, Javier;
Moreno, Carlos;
López, Andres;
Mendiola, Marta;
García-Miguel, Purificación;
Abelairas, José;
Sarret, Enric;
Vendrell, M. Teresa;
Navajas, Aurora;
Pestaña, Angel

Publication type:

Article

Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 432, doi. 10.1002/humu.1120

By:

O'Donnell, Kate A.;
Tighe, Orna;
O'Neill, Charles;
Naughten, Eileen;
Mayne, Philip D.;
McCarthy, Tommie V.;
Vaughan, Patrick;
Croke, David T.

Publication type:

Article

Variable expressivity and mutation databases: The androgen receptor gene mutations database.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 382, doi. 10.1002/humu.1113

By:

Gottlieb, Bruce;
Beitel, Lenore K.;
Trifiro, Mark A.

Publication type:

Article

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 412, doi. 10.1002/humu.1117

By:

Alonso, Javier;
García-Miguel, Purificación;
Abelairas, José;
Mendiola, Marta;
Sarret, Enric;
Vendrell, M. Teresa;
Navajas, Aurora;
Pestaña, Angel

Publication type:

Article

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 434, doi. 10.1002/humu.1124

By:

Ward, L.M.;
Lalic, L.;
Roughley, P.J.;
Glorieux, F.H.

Publication type:

Article

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 374, doi. 10.1002/humu.1112

By:

Péquignot, Marie O.;
Dey, Runu;
Zeviani, Massimo;
Tiranti, Valeria;
Godinot, Catherine;
Poyau, Alain;
Sue, Caroline;
Di Mauro, Salvatore;
Abitbol, Marc;
Marsac, Cécile

Publication type:

Article