Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 2

Results: 16

DHPLC analysis of the MECP2 gene in Italian Rett patients.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 132, doi. 10.1002/humu.1162

By:

Nicolao, Piero;
Carella, Massimo;
Giometto, Bruno;
Tavolato, Bruno;
Cattin, Riccardo;
Giovannucci-Uzielli, Maria Luisa;
Vacca, Marcella;
Regione, Floriana Della;
Piva, Stefania;
Bortoluzzi, Stefania;
Gasparini, Paolo

Publication type:

Article

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 141, doi. 10.1002/humu.1163

By:

Hertz, Jens Michael;
Juncker, Inger;
Persson, Ulf;
Matthijs, Gert;
Schmidtke, Jörg;
Petersen, Michael B.;
Kjeldsen, Margrethe;
Gregersen, Niels

Publication type:

Article

Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 163, doi. 10.1002/humu.1167

By:

Baudi, Francesco;
Quaresima, Barbara;
Grandinetti, Cristina;
Cuda, Giovanni;
Faniello, Concetta;
Tassone, Pierfrancesco;
Barbieri, Vito;
Bisegna, Roberta;
Ricevuto, Enrico;
Conforti, Serafino;
Viel, Alessandra;
Marchetti, Paolo;
Ficorella, Corrado;
Radice, Paolo;
Costanzo, Francesco;
Venuta, Salvatore

Publication type:

Article

Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 120, doi. 10.1002/humu.1161

By:

Chen, Hong;
Jawahar, Satya;
Qian, Yimei;
Duong, Quyen;
Chan, Gayun;
Parker, Alex;
Meyer, Joanne M.;
Moore, Karen J.;
Chayen, Susan;
Gross, David J.;
Glaser, Benjamin;
Permutt, M. Alan;
Fricker, Lloyd D.

Publication type:

Article

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 166, doi. 10.1002/humu.1172

By:

Castellani, Carlo;
Gomez Lira, Macarena;
Frulloni, Luca;
Delmarco, Antonella;
Marzari, Maria;
Bonizzato, Alberto;
Cavallini, Giorgio;
Pignatti, PierFranco;
Mastella, Gianni

Publication type:

Article

Expression and analysis of CLN2 variants in CHO cells: Q100r represents a polymorphism, and G389E and R447H represent loss-of-function mutations.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 165, doi. 10.1002/humu.1170

By:

Lin, Li;
Lobel, Peter

Publication type:

Article

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 101, doi. 10.1002/humu.1159

By:

Masmoudi, Saber;
Antonarakis, Stylianos E.;
Schwede, Torsten;
Ghorbel, Abdel Monem;
Gratri, M'hamed;
Pappasavas, Marie-Pierre;
Drira, Mohamed;
Elgaied-Boulila, Amel;
Wattenhofer, Marie;
Rossier, Colette;
Scott, Hamish S.;
Ayadi, Hammadi;
Guipponi, Michel

Publication type:

Article

A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 157, doi. 10.1002/humu.1165

By:

Santos, C.B.;
Costa Lima, M.A.;
Pimentel, M.M.G.

Publication type:

Article

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 163, doi. 10.1002/humu.1166

By:

Gérard, Bénédicte;
El Benna, Jamel;
Alcain, Françoise;
Gougerot-Pocidalo, Marie-Anne;
Grandchamp, Bernard;
Chollet-Martin, Sylvie

Publication type:

Article

Population screening if F508del (ΔF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 167, doi. 10.1002/humu.1173

By:

Roqué, María;
Godoy, Clara Pott;
Castellanos, Mariana;
Pusiol, Eduardo;
Mayorga, Luis S.

Publication type:

Article

Using linked markers to infer the age of a mutation.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 87, doi. 10.1002/humu.1158

By:

Rannala, Bruce;
Bertorelle, Giorgio

Publication type:

Article

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 109, doi. 10.1002/humu.1160

By:

Miano, Maria Giuseppina;
Testa, Francesco;
Filippini, Francesco;
Trujillo, Mariajosè;
Conte, Ivan;
Lanzara, Carmela;
Millán, Josè Maria;
De Bernardo, Carmelilia;
Grammatico, Barbara;
Mangino, Massimo;
Torrente, Isabella;
Carrozzo, Romeo;
Simonelli, Francesca;
Rinaldi, Ernesto;
Ventruto, Valerio;
D'Urso, Michele;
Ayuso, Carmen;
Ciccodicola, Alfredo

Publication type:

Article

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 164, doi. 10.1002/humu.1169

By:

Filocamo, Mirella;
Bonuccelli, Gloria;
Corsolini, Fabio;
Mazzotti, Raffaella;
Cusano, Roberto;
Gatti, Rosanna

Publication type:

Article

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 165, doi. 10.1002/humu.1171

By:

Nauck, M.S.;
Köster, W.;
Dörfer, K.;
Eckes, J.;
Scharnagl, H.;
Gierens, H.;
Nissen, H.;
Nauck, M.A.;
Wieland, H.;
März, Winfried

Publication type:

Article

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 149, doi. 10.1002/humu.1164

By:

Jakubowska, Anna;
Górski, Bohdan;
Byrski, Tomasz;
Huzarski, Tomasz;
Gronwald, Jacek;
Menkiszak, Janusz;
Cybulski, Cezary;
Debniak, Tadeusz;
Hadaczek, Piotr;
Scott, Rodney J.;
Lubinski, Jan

Publication type:

Article

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 164, doi. 10.1002/humu.1168

By:

Simovich, Marcia J.;
Miller, Beverly;
Ezzeldin, Hany;
Kirkland, Bryan T.;
McLeod, Genevieve;
Fulmer, Chere;
Nathans, Jeremy;
Jacobson, Samuel G.;
Pittler, Steven J.

Publication type:

Article