Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 4

Results: 16

Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #650 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/650.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 338, doi. 10.1002/humu.9179

By:

Vilma Mantovani;
Silvana Salardi;
Vincenzo Cerreta;
Daniela Bastia;
Marinella Cenci;
Luca Ragni;
Stefano Zucchini;
Raffaele Parente;
Alessandro Cicognani

Publication type:

Article

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1<FN ID="fn1">Communicated by Mark H. Paalman</FN>.

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 313, doi. 10.1002/humu.10255

By:

Walter D. Park;
John F. O'Brien;
Patrick A. Lundquist;
Daniel L. Kraft;
Cate Walsh Vockley;
Pamela S. Karnes;
Marc C. Patterson;
Karen Snow

Publication type:

Article

Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #656 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/656.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 341, doi. 10.1002/humu.9185

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions<FN ID="fn1">Communicated by Jean-Louis Mandel</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #655 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/655.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 340, doi. 10.1002/humu.9184

By:

S. Funghini;
M.A. Donati;
E. Pasquini;
E. Zammarchi;
A. Morrone

Publication type:

Article

CFTR genotypes in patients with normal or borderline sweat chloride levels<FN ID="fn1">Communicated by Xavier Estivill</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #654 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/654.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 340, doi. 10.1002/humu.9183

By:

Delphine Feldmann;
Remy Couderc;
Marie-Pierre Audrezet;
Claude Ferec;
Thierry Bienvenu;
Marie Desgeorges;
Mireille Claustres;
Hervé Mittre;
Martine Blayau;
Dominique Bozon;
Marie-Claire Malinge;
Nicole Monnier;
Jean-Paul Bonnefont;
Albert Iron;
Eric Bieth;
Viviane Dumur;
Christine Clavel;
Cécile Cazeneuve;
Emmanuelle Girodon

Publication type:

Article

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever<FN ID="fn1">Communicated by Dvorah Abeliovich</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #653 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/653.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 339, doi. 10.1002/humu.9182

By:

Dimitri Tchernitchko;
Marie Legendre;
Cécile Cazeneuve;
Andrée Delahaye;
Florence Niel

Publication type:

Article

Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations<FN ID="fn1">Communicated by Nobuyoshi Shimizu</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #652 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/652.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 339, doi. 10.1002/humu.9181

By:

Velamakanni Saroj Kiran;
Chitra Kannabiran;
Kalyana Chakravarthi;
Geeta K. Vemuganti;
Santosh G. Honavar

Publication type:

Article

Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #651 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/651.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 338, doi. 10.1002/humu.9180

By:

Maria Savino;
Adriana Borriello;
Maria d'Apolito;
Maria Criscuolo;
Maria Del Vecchio;
Anna Monica Bianco;
Michele Di Perna;
Rita Calzone;
Bruno Nobili;
Adriana Zatterale;
Leopoldo Zelante;
Hans Joenje;
Fulvio Della Ragione;
Anna Savoia

Publication type:

Article

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica<FN ID="fn1">Communicated by Michel Goossens</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #649 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/649.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 337

By:

Sébastien Küry;
Monia Kharfi;
Ridha Kamoun;
Alain Taïeb;
Eric Mallet;
Jean-Jacques Baudon;
Catherine Glastre;
Bruno Michel;
Francis Sebag;
David Brooks;
Volker Schuster;
Catherine Scoul;
Brigitte Dréno;
Stéphane Bézieau;
Jean-Paul Moisan

Publication type:

Article

Mutational analysis of the AGL gene: Five novel mutations in GSD III patients <FN ID="fn1">Communicated by William S. Sly</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #648 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/648.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9177

By:

S. Lucchiari;
M.A. Donati;
D. Melis;
M. Filocamo;
R. Parini;
N. Bresolin;
G.P. Comi

Publication type:

Article

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #647 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/647.pdf</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9176

By:

Berta Campos;
Orland Díez;
Montserrat Domènech;
Manel Baena;
Judith Balmaña;
Judit Sanz;
Amaya Ramírez;
Carmen Alonso;
Montserrat Baiget

Publication type:

Article

Rapid detection of β-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC<FN ID="fn1">Communicated by Peter Oefner</FN>.

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 326, doi. 10.1002/humu.10265

By:

Yi-Ning Su;
Chien-Nan Lee;
Chia-Cheng Hung;
Chi-An Chen;
Wen-Fang Cheng;
Po-Nien Tsao;
Chia-Li Yu

Publication type:

Article

MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency<FN ID="fn1">Communicated by Iain McIntosh</FN>.

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 288, doi. 10.1002/humu.10264

By:

P.J. Wightman;
R. Santer;
A. Ribes;
F. Dougherty;
N. McGill;
D.R. Thorburn;
D.R. FitzPatrick

Publication type:

Article

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects<FN ID="fn1">Communicated by Ellen Solomon</FN>.

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 301, doi. 10.1002/humu.10260

By:

Orland Díez;
Ana Osorio;
Mercedes Durán;
José Ignacio Martinez-Ferrandis;
Miguel de la Hoya;
Raquel Salazar;
Ana Vega;
Berta Campos;
Raquel Rodríguez-López;
Eladio Velasco;
Javier Chaves;
Eduardo Díaz-Rubio;
Juan Jesús Cruz;
María Torres;
Eva Esteban;
Andrés Cervantes;
Carmen Alonso;
Juan Manuel San Román;
Rogelio González-Sarmiento;
Cristina Miner

Publication type:

Article

Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders<FN ID="fn1">Communicated by Mireille Claustres</FN><FN ID="fn2">This article is a US government work, and, as such, is in the public domain of the United States of America.</FN>

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 261, doi. 10.1002/humu.10259

By:

Michael Dean

Publication type:

Article

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease<FN ID="fn1">Communicated by Richard G.H. Cotton</FN>.

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 275, doi. 10.1002/humu.10258

By:

Kim Cryns;
Theru A. Sivakumaran;
Jody M.W. Van den Ouweland;
Ronald J.E. Pennings;
Cor W.R.J. Cremers;
Kris Flothmann;
Terry-Lynn Young;
Richard J.H. Smith;
Marci M. Lesperance;
Guy Van Camp

Publication type:

Article