Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 4

Results: 70

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #597 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/597.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9126

By:

Mercedes Duran;
Eva Esteban-Cardeñosa;
Eladio Velasco;
Mar Infante;
Cristina Miner

Publication type:

Article

A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #591 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/591.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9120

By:

Paula M. Hempen;
Harsha Kurpad;
Eric S. Calhoun;
Susan Abraham

Publication type:

Article

Identification of seven novel mutations in the GAN gene (Communicated by Jacques Beckmann) Online Citation: Human Mutation, Mutation in Brief #593 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/593.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9122

By:

P. Bomont;
C. Ioos;
C. Yalcinkaya;
R. Korinthenberg;
JM. Vallat;
S. Assami;
A. Munnich;
B. Chabrol;
G. Kurlemann;
M. Tazir;
M. Koenig

Publication type:

Article

Mutation analysis in 16 patients with mtDNA depletionCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #606 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135

By:

R. Carrozzo;
B. Bornstein;
S. Lucioli;
Y. Campos;
P. de la Pena;
N. Petit;
C. Dionisi?Vici;
L. Vilarinho;
T. Rizza;
E. Bertini;
R. Garesse;
F.M. Santorelli;
J. Arenas

Publication type:

Article

Mutation analysis in 16 patients with mtDNA depletion (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #606 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135

By:

R. Carrozzo;
B. Bornstein;
S. Lucioli;
Y. Campos;
P. de la Pena;
N. Petit;
C. Dionisi-Vici;
L. Vilarinho;
T. Rizza;
E. Bertini;
R. Garesse;
F.M. Santorelli;
J. Arenas

Publication type:

Article

Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #605 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/605.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9134

By:

Tao Yang;
Chi-Pui Pang;
Man-Wo Tsang;
Ching-Wan Lam;
Priscilla M.K. Poon;
Lisa Y.S. Chan;
Xiang-Qian Wu;
Brian Tomlinson;
Larry Baum

Publication type:

Article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #604 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133

By:

Berta Campos;
Orland Díez;
Fabrice Odefrey;
Montserrat Domènech;
Virginie Moncoutier;
José Ignacio Martínez-Ferrandis;
Ana Osorio;
Judith Balmaña;
Alicia Barroso;
María Eugenia Armengod;
Javier Benítez;
Carmen Alonso;
Dominique Stoppa-Lyonnet;
David Goldgar;
Montserrat Baiget

Publication type:

Article

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #603 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/603.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9132

By:

Katsunori Fujii;
Yoichi Kohno;
Katsuo Sugita;
Mihoko Nakamura;
Yoichi Moroi;
Kazunori Urabe;
Masutaka Furue;
Masao Yamada;
Toshiyuki Miyashita

Publication type:

Article

Bruton tyrosine kinase gene mutations in Argentina (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #602 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/602.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9131

By:

Silvia Danielian;
Jazmin El-Hakeh;
Guillermo Basílico;
Matías Oleastro;
Sergio Rosenzweig;
Guillermina Feldman;
Liliana Berozdnik;
Miguel Galicchio;
Ángela Gallardo;
Vera Giraudi;
Diana Liberatore;
Eva Maria Rivas;
Marta Zelazko

Publication type:

Article

Identification of novel SNPs in the interleukin 6 receptor gene (IL6R) (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #601 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/601.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9130

By:

Lyoung Hyo Kim;
Hyo-Suk Lee;
Yoon Jun Kim;
Ji Hyun Jung;
Jun Yeun Kim;
Byung Lae Park;
Hyoung Doo Shin

Publication type:

Article

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #600 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129

By:

Silvia Saviozzi;
Alessandro Saluto;
Maria Piane;
Sabrina Prudente;
Nicola Migone;
Mario DeMarchi;
Alfredo Brusco;
Luciana Chessa

Publication type:

Article

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #599 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128

By:

Chi Hwa Kim;
Hye Zin Hwang;
Seng Mi Song;
Kyung Hoon Paik;
Eun Kyung Kwon;
Kwang Bin Moon;
Jeong Hyeok Yoon;
Cheol Kyu Han

Publication type:

Article

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #598 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/598.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9127

By:

Zdena Bartosova;
Ivana Fridrichova;
Maria Bujalkova;
Brigitte Wolf;
Denisa Ilencikova;
Peter Krizan;
Peter Hlavcak;
Julius Palaj;
Ludovit Lukac;
Margita Lukacova;
Andrej Böör;
Ritva Haider;
Josef Jiricny;
Minna Nyström-Lahti;
Giancarlo Marra

Publication type:

Article

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #596 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125

By:

Mauro D'Amato;
Margherita Bonuglia;
Simona Barile;
Daniela Griso;
Annelisa Macri;
Gianfranco Biolcati

Publication type:

Article

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #595 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/595.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 447, doi. 10.1002/humu.9124

By:

Petra H.L. Schuilenga-Hut;
Pieter v.d. Vlies;
Marcel F. Jonkman;
Esmé Waanders;
Charles H.C.M. Buys;
Hans Scheffer

Publication type:

Article

Genetic analysis of familial colorectal cancer in Israeli Arabs (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #594 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/594.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9123

By:

Rakefet Chen-Shtoyerman;
Livia Theodor;
Ester Harmati;
Eitan Friedman;
Samir Dacka;
Yael Kopelman;
Amos Sternberg;
Raz Zarivach;
Simon Bar-Meir;
Zvi Fireman

Publication type:

Article

Identification of six novel MSH2 and MLH1 germline mutations in HNPCC (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #592 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/592.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9121

By:

Stefan Krüger;
Jens Plaschke;
Birgit Jeske;
Heike Görgens;
Steffen R. Pistorius;
Andrea Bier;
Friedmar R. Kreuz;
Franz Theissig;
Daniela E. Aust;
Hans D. Saeger;
Hans K. Schackert

Publication type:

Article

PAHdb 2003: What a locus-specific knowledgebase can do (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 333, doi. 10.1002/humu.10200

By:

Charles R. Scriver;
Mélanie Hurtubise;
David Konecki;
Manyphong Phommarinh;
Lynne Prevost;
Heidi Erlandsen;
Ray Stevens;
Paula J. Waters;
Shannon Ryan;
David McDonald;
Christineh Sarkissian

Publication type:

Article

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195

By:

Orna Tighe;
Donncha Dunican;
Belen Perez;
Lourdes Ruiz Desviat;
Magdalena Ugarte;
Vaidutis Kučinskas;
Per Knappskog;
Eileen Treacy;
Eileen Naughten;
Linda Tyfield;
Susan Byck;
Charles R. Scriver;
Philip D. Mayne;
David T. Croke

Publication type:

Article

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 379, doi. 10.1002/humu.10199

By:

Mary Gable;
Margaret Williams;
Anne Stephenson;
Yoshiyuki Okano;
Susan Ring;
Melanie Hurtubise;
Linda Tyfield

Publication type:

Article

Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #590 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/590.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 444, doi. 10.1002/humu.9119

By:

A. Esra Manguoǧlu;
Güven Lüleci;
Tayfun Özçelik;
Taner Çolak;
Hagit Schayek;
Mustafa Akaydın;
Eitan Friedman

Publication type:

Article

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset (Communicated by Arnold Munnich) Online Citation: Human Mutation, Mutation in Brief #589 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/589.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 444

By:

J. Häberle;
E. Schmidt;
S. Pauli;
B. Rapp;
E. Christensen;
B. Wermuth;
H.G. Koch

Publication type:

Article

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #588 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/588.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 400, doi. 10.1002/humu.9117

By:

M. Lindner;
R. Steinfeld;
P. Burgard;
A. Schulze;
E. Mayatepek

Publication type:

Article

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #587 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/587.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9116

By:

Christa Aulehla-Scholz;
Helmut Heilbronner

Publication type:

Article

The molecular basis of phenylalanine hydroxylase deficiency in Croatia (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #586 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/586.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9115

By:

Johannes Zschocke;
Astrid Preusse;
Vladimir Sarnavka;
Ksenija Fumic;
Duško Mardešic;
Georg F. Hoffmann;
Ivo Baric

Publication type:

Article

The molecular basis of phenylketonuria in Latvia (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #585 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/585.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9114

By:

N. Pronina;
S. Giannattasio;
P. Lattanzio;
R. Lugovska;
P. Vevere;
A. Kornejeva

Publication type:

Article

The molecular basis of phenylketonuria in Lithuania (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #584 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/584.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9113

By:

J. Kasnauskiene;
S. Giannattasio;
P. Lattanzio;
L. Cimbalistiene;
V. Kučinskas

Publication type:

Article

Focus on the molecular genetics of phenylketonuria (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 331, doi. 10.1002/humu.10208

By:

Johannes Zschocke

Publication type:

Article

A role for overdominant selection in phenylketonuria? Evidence from molecular data (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205

By:

Michael Krawczak;
Johannes Zschocke

Publication type:

Article

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 401, doi. 10.1002/humu.10202

By:

T.B. Nga Ly;
Verena Peters;
K. Michael Gibson;
Michael Liesert;
Wolfgang Buckel;
Bridget Wilcken;
Kevin Carpenter;
Regina Ensenauer;
Georg F. Hoffmann;
Matthias Mack

Publication type:

Article

Phenylketonuria: Genotypephenotype correlations based on expression analysis of structural and functional mutations in PAH (For the PKU special issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198

By:

Angel L. Pey;
Lourdes R. Desviat;
Alejandra Gámez;
Magdalena Ugarte;
Belén Pérez

Publication type:

Article

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: Insights from in vitro expression (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 357, doi. 10.1002/humu.10197

By:

Paula J. Waters

Publication type:

Article

Mitochondrial DNA mutation correlates with stage progression and prognosis in non-small cell lung cancer (Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 441, doi. 10.1002/humu.10196

By:

Wataru Matsuyama;
Masanori Nakagawa;
Joeji Wakimoto;
Yasunobu Hirotsu;
Masaharu Kawabata;
Mitsuhiro Osame

Publication type:

Article

Phenylketonuria mutations in Europe (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 345, doi. 10.1002/humu.10192

By:

Johannes Zschocke

Publication type:

Article

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168

By:

David S. Millar;
Mark D. Lewis;
Martin Horan;
Vicky Newsway;
Tammy E. Easter;
John W. Gregory;
Linda Fryklund;
Martin Norin;
Elizabeth C. Crowne;
Sally J. Davies;
Phillip Edwards;
Jeremy Kirk;
Kim Waldron;
Patricia J. Smith;
John A. Phillips;
Maurice F. Scanlon;
Michael Krawczak;
David N. Cooper;
Annie M. Procter

Publication type:

Article

Human growth hormone 1 (GH1) gene expression: Complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region (Communicated by Mark H. Paalman) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v21.html)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 408, doi. 10.1002/humu.10167

By:

Martin Horan;
David S. Millar;
Jürgen Hedderich;
Geraint Lewis;
Vicky Newsway;
Neil Mo;
Linda Fryklund;
Annie M. Procter;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetesCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #605 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/605.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9134

By:

Tao Yang;
Chi?Pui Pang;
Man?Wo Tsang;
Ching?Wan Lam;
Priscilla M.K. Poon;
Lisa Y.S. Chan;
Xiang?Qian Wu;
Brian Tomlinson;
Larry Baum

Publication type:

Article

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #604 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133

By:

Berta Campos;
Orland Díez;
Fabrice Odefrey;
Montserrat Domènech;
Virginie Moncoutier;
José Ignacio Martínez?Ferrandis;
Ana Osorio;
Judith Balmaña;
Alicia Barroso;
María Eugenia Armengod;
Javier Benítez;
Carmen Alonso;
Dominique Stoppa?Lyonnet;
David Goldgar;
Montserrat Baiget

Publication type:

Article

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #603 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/603.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9132

By:

Katsunori Fujii;
Yoichi Kohno;
Katsuo Sugita;
Mihoko Nakamura;
Yoichi Moroi;
Kazunori Urabe;
Masutaka Furue;
Masao Yamada;
Toshiyuki Miyashita

Publication type:

Article

Bruton tyrosine kinase gene mutations in ArgentinaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #602 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/602.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9131

By:

Silvia Danielian;
Jazmin El?Hakeh;
Guillermo Basílico;
Matías Oleastro;
Sergio Rosenzweig;
Guillermina Feldman;
Liliana Berozdnik;
Miguel Galicchio;
Ángela Gallardo;
Vera Giraudi;
Diana Liberatore;
Eva Maria Rivas;
Marta Zelazko

Publication type:

Article

Identification of novel SNPs in the interleukin 6 receptor gene (IL6R)Communicated by Michael DeanOnline Citation: Human Mutation, Mutation in Brief #601 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/601.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9130

By:

Lyoung Hyo Kim;
Hyo?Suk Lee;
Yoon Jun Kim;
Ji Hyun Jung;
Jun Yeun Kim;
Byung Lae Park;
Hyoung Doo Shin

Publication type:

Article

Six novel ATM mutations in Italian patients with classical ataxia?telangiectasiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #600 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129

By:

Silvia Saviozzi;
Alessandro Saluto;
Maria Piane;
Sabrina Prudente;
Nicola Migone;
Mario DeMarchi;
Alfredo Brusco;
Luciana Chessa

Publication type:

Article

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #599 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128

By:

Chi Hwa Kim;
Hye Zin Hwang;
Seng Mi Song;
Kyung Hoon Paik;
Eun Kyung Kwon;
Kwang Bin Moon;
Jeong Hyeok Yoon;
Cheol Kyu Han;
Dong?Kyu Jin

Publication type:

Article

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in SlovakiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #598 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/598.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9127

By:

Zdena Bartosova;
Ivana Fridrichova;
Maria Bujalkova;
Brigitte Wolf;
Denisa Ilencikova;
Peter Krizan;
Peter Hlavcak;
Julius Palaj;
Ludovit Lukac;
Margita Lukacova;
Andrej Böör;
Ritva Haider;
Josef Jiricny;
Minna Nyström?Lahti;
Giancarlo Marra

Publication type:

Article

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla?Leon: Identification of four novel truncating mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #597 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/597.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9126

By:

Mercedes Duran;
Eva Esteban?Cardeñosa;
Eladio Velasco;
Mar Infante;
Cristina Miner

Publication type:

Article

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #596 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125

By:

Mauro D'Amato;
Margherita Bonuglia;
Simona Barile;
Daniela Griso;
Annelisa Macri;
Gianfranco Biolcati

Publication type:

Article

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #595 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/595.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 447, doi. 10.1002/humu.9124

By:

Petra H.L. Schuilenga?Hut;
Pieter v.d. Vlies;
Marcel F. Jonkman;
Esmé Waanders;
Charles H.C.M. Buys;
Hans Scheffer

Publication type:

Article

Genetic analysis of familial colorectal cancer in Israeli ArabsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #594 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/594.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9123

By:

Rakefet Chen?Shtoyerman;
Livia Theodor;
Ester Harmati;
Eitan Friedman;
Samir Dacka;
Yael Kopelman;
Amos Sternberg;
Raz Zarivach;
Simon Bar?Meir;
Zvi Fireman

Publication type:

Article

Identification of seven novel mutations in the GAN geneCommunicated by Jacques BeckmannOnline Citation: Human Mutation, Mutation in Brief #593 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/593.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9122

By:

P. Bomont;
C. Ioos;
C. Yalcinkaya;
R. Korinthenberg;
JM. Vallat;
S. Assami;
A. Munnich;
B. Chabrol;
G. Kurlemann;
M. Tazir;
M. Koenig

Publication type:

Article

Identification of six novel MSH2 and MLH1 germline mutations in HNPCCCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #592 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/592.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9121

By:

Stefan Krüger;
Jens Plaschke;
Birgit Jeske;
Heike Görgens;
Steffen R. Pistorius;
Andrea Bier;
Friedmar R. Kreuz;
Franz Theissig;
Daniela E. Aust;
Hans D. Saeger;
Hans K. Schackert

Publication type:

Article