Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 1

Results: 21

MTHFR C677T and A1298C polymorphisms and mutated sequences occurring in cis.

Published in:

2003

By:

Zetterberg, Henrik;
Rymo, Lars;
Coppola, Antonio;
D'Angelo, Armando;
Spandidos, Demetrios A.;
Blennow, Kaj

Publication type:

Erratum

A Dictionary of Genetics (Book).

Published in:

2003

By:

Cassiman, Jean-Jacques

Publication type:

Book Review

Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 102, doi. 10.1038/sj.ejhg.5200908

By:

Kocaefe, Y. Çetin;
Erdem, Sevim;
Özgüç, Meral;
Tan, Ersin

Publication type:

Article

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 97, doi. 10.1038/sj.ejhg.5200926

By:

Vesel, Samo;
Stopar-Obreza, Mirjam;
Trebušak-Pdkrajšek, Katarina;
Jazbec, Janez;
Podnar, Tomaž;
Battelino, Tadej

Publication type:

Article

Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 93, doi. 10.1038/sj.ejhg.5200927

By:

Patuzzo, Cristina;
Castellani, Carlo;
Sagramoso, Carlo;
Gomez-Lira, Macarena;
Bonamini, Deborah;
Belpinati, Francesca;
Dechecchi, Maria Cristina;
Assael, Aroukh Maurice;
Pignatti, Pier Franco

Publication type:

Article

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 89, doi. 10.1038/sj.ejhg.5200907

By:

Anderlid, Britt-Marie;
Schoumans, Jacqueline;
Hallqvist, Åsa;
Ståhl, Ylva;
Wallin, Agneta;
Blennow, Elisabeth;
Nordenskjöld, Magnus

Publication type:

Article

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 85, doi. 10.1038/sj.ejhg.5200915

By:

Schollen, Els;
Matthijs, Gert;
Gewillig, Marc;
Fryns, Jean-Pierre;
Legius, Eric

Publication type:

Article

The CTLA4 region as a general autoimmunity factor: An extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 81, doi. 10.1038/sj.ejhg.5200903

By:

Einarsdottir, Elisabet;
Söderström, Ingegerd;
Löfgren-Burström, Anna;
Haraldsson, Susann;
Nilsson-Ardnor, Sofie;
Penha-Goncalves, Carlos;
Lind, Lisbet;
Holmgren, Gösta;
Holmberg, Monica;
Asplund, Kjell;
Holmberg, Dan

Publication type:

Article

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1--14q24.3 in large consanguineous kindred from Pakistan.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200905

By:

Ansar, Muhammad;
Amin ud Din, Mohammad;
Arshad, Muhammad;
Sohail, Muhammad;
Faiyaz-Ul-Haque, Mohammad;
Haque, Sayedul;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 69, doi. 10.1038/sj.ejhg.5200914

By:

Rampazzo, Alessandra;
Beffagna, Giorgia;
Nava, Andrea;
Occhi, Gianluca;
Bauce, Barbara;
Noiato, Massimo;
Basso, Cristina;
Frigo, Gianfranco;
Thiene, Gaetano;
Towbin, Jeffrey;
Danieli, Gian Antonio

Publication type:

Article

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 64, doi. 10.1038/sj.ejhg.5200911

By:

Kavamura, M.I.;
Pomponi, M.G.;
Zollino, M.;
Lecce, R.;
Murdolo, M.;
Brunoni, D.;
Alchorne, M.M.A.;
Opitz, J.M.;
Neri, G.

Publication type:

Article

A new web-based data mining tool for the identification of candidate genes for human genetic disorders.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 57, doi. 10.1038/sj.ejhg.5200918

By:

van Driel, Marc A.;
Cuelenaere, Koen;
Kemmeren, Patrick P.C.W.;
Leunissen, Jack A.M.;
Brunner, Han G.

Publication type:

Article

Familial Mediterranean fever is no longer a rare disease in Italy.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 50, doi. 10.1038/sj.ejhg.5200916

By:

La Regina, Micaela;
Nucera, Gabriella;
Diaco, Marialuisa;
Procopio, Antonio;
Gasbarrini, Giovanni;
Notarnicola, Cecile;
Kone-Paut, Isabelle;
Touitou, Isabelle;
Manna, Raffaele

Publication type:

Article

Global genetic variation at nine short tandem repeat loci and implications on forensic genetics.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 39, doi. 10.1038/sj.ejhg.5200902

By:

Guangyun Sun;
McGarvey, Stephen T.;
Bayoumi, Riad;
Mulligan, Connie J.;
Barrantes, Ramiro;
Raskin, Salmo;
Yixi Zhong;
Akey, Joshua;
Chakraborty, Ranajit;
Deka, Ranjan

Publication type:

Article

Psychological distress in the 5-year period after predictive testing for Huntington's disease.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 30, doi. 10.1038/sj.ejhg.5200913

By:

Decruyenaere, Marleen;
Evers-Kiebooms, Gerry;
Cloostermans, Trees;
Boogaerts, Andrea;
Demyttenaere, Koen;
Dom, René;
Fryns, Jean Pierre

Publication type:

Article

Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 23, doi. 10.1038/sj.ejhg.5200899

By:

Lievers, Karin J.A.;
Kluijtmans, Leo A.J.;
Heil, Sandra G.;
Boers, Godfried H.J.;
Verhoef, Petra;
den Heijer, Martin;
Trijbels, Frans J.M.;
Blom, Henk J.

Publication type:

Article

Linkage of aggressive prostate cancer to chromosome 7q31-33 in German prostate cancer families.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 17, doi. 10.1038/sj.ejhg.5200898

By:

Paiss, Thomas;
Wörner, Sonja;
Kurtz, Florian;
Haeussler, Juergen;
Hautmann, Richard E.;
Gschwend, Juergen E.;
Herkommer, Kathleen;
Vogel, Walther

Publication type:

Article

Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 6, doi. 10.1038/sj.ejhg.5200897

By:

Croucher, Peter J.P.;
Mascheretti, Silvia;
Hampe, Jochen;
Huse, Klaus;
Frenzel, Henning;
Stoll, Monika;
Lu, Tim;
Nikolaus, Susanna;
Suk-Kyun Yang;
Krawczak, Michael;
Won Ho Kim;
Schreiber, Stefan

Publication type:

Article

Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 5, doi. 10.1038/sj.ejhg.5200928

By:

Yanamandra, Krishna;
Bocchini Jr., Joseph A.;
Thurmon, Theodore F.

Publication type:

Article

Discovery of old diseases: the molecular approach.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 3, doi. 10.1038/sj.ejhg.5200917

By:

Deltas, C. Constantinou

Publication type:

Article

Genetic discrimination: Too few data.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 1, doi. 10.1038/sj.ejhg.5200910

By:

Otlowski, Margaret F.;
Taylor, Sandra D.;
Barlow-Stewart, Kristine K.

Publication type:

Article