Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 3

Results: 16

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 225, doi. 10.1038/sj.ejhg.5201095

By:

Soares, Miguel Luz;
Coelho, Teresa;
Sousa, Alda;
Holmgren, Gösta;
Saraiva, Maria João;
Kastner, Daniel L.;
Buxbaum, Joel N.

Publication type:

Article

Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 173, doi. 10.1038/sj.ejhg.5201119

By:

Van Kien, Philippe Khau;
Wolf, Jean-Eric;
Mathieu, Flavie;
Zhu, Limin;
Salve, Nicolas;
Lalande, Alain;
Bonnet, Caroline;
Lesca, Gaëtan;
Plauchu, Henri;
Dellinger, Arnaud;
Nivelon-Chevallier, Annie;
Brunotte, François;
Jeunemaitre, Xavier

Publication type:

Article

Association of the human adiponectin gene and insulin resistance.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 199, doi. 10.1038/sj.ejhg.5201120

By:

Filippi, Emanuela;
Sentinelli, Federica;
Trischitta, Vincenzo;
Stefano 3Romeo, Vincenzo;
Arca, Marcello;
Leonetti, Frida;
Di Mario, Umberto;
Baroni, Marco Giorgio

Publication type:

Article

Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 187, doi. 10.1038/sj.ejhg.5201124

By:

Faisel, Fareeza;
Romppanen, Eeva-Liisa;
Hiltunen, Mikko;
Helisalmi, Seppo;
Laasanen, Jaana;
Punnonen, Kari;
Salonen, Jukka T.;
Heinonen, Seppo

Publication type:

Article

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 167, doi. 10.1038/sj.ejhg.5201127

By:

Crowther, Damian C.;
Belorgey, Didier;
Miranda, Elena;
Kinghorn, Kerri J.;
Sharp, Lynda K.;
Lomas, David A.

Publication type:

Article

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Published in:

2004

By:

Goizet, Cyril;
Coupry, Isabelle;
Rooryck, Caroline;
Taine, Laurence;
Dormoy, Virginie;
Lacombe, Didier;
Arveiler, Benoît

Publication type:

Report

RHD maternal-fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 192, doi. 10.1038/sj.ejhg.5201129

By:

Kraft, Peter;
Palmer, Christina G. S.;
Woodward, Arthur J.;
Turunen, Joni A.;
Minassian, Sonia;
Paunio, Tiina;
Lönnqvist, Jouko;
Peltonen, Leena;
Sinsheimer, Janet S.

Publication type:

Article

Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 206, doi. 10.1038/sj.ejhg.5201130

By:

Giachino, Daniela;
van Duist, Marjan Maria;
Regazzoni, Silvia;
Gregori, Dario;
Bardessono, Marco;
Salacone, Paola;
Scaglione, Nadia;
Sostegni, Raffaello;
Sapone, Nicoletta;
Bresso, Francesca;
Sambataro, Angela;
Gaia, Ezio;
Pera, Angelo;
Astegiano, Marco;
De Marchi, M.

Publication type:

Article

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 220, doi. 10.1038/sj.ejhg.5201132

By:

Haut, Sandrine;
Thierry Billette 3de Villemeur, Sandrine;
le Brivet, Miche;
Guiochon-Mantel, Anne;
Boutron, Audrey;
Rustin, Pierre;
Legrand, Alain;
Slama, Abdelhamid

Publication type:

Article

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134

By:

Flori, Elisabeth;
Biancalana, Valérie;
Girard-Lemaire, Françoise;
Favre, Romain;
Flori, Jean;
Doray, Bérénice;
Mandel, Jean Louis

Publication type:

Article

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

Published in:

2004

By:

Annick Vogels, François;
Jenneke Van Den Ende;
Kathelijne Keymolen, François;
Geert Mortier;
Koen Devriendt, François;
E. Legius;
J. P. Fryns, François

Publication type:

Report

Genome-wide scanning for linkage in Finnish breast cancer families.

Published in:

2004

By:

Huusko, Pia;
Juo, Suh-Hang Hank;
Gillanders, Elizabeth;
Sarantaus, Laura;
Kainu, Tommi;
Vahteristo, Pia;
Allinen, Minna;
Jones, MaryPat;
Rapakko, Katrin;
Eerola, Hannaleena;
Markey, Carol;
Vehmanen, Paula;
Gildea, Derek;
Freas-Lutz, Diane;
Blomqvist, Carl;
Leisti, Jaakko;
Blanco, Guillermo;
Puistola, Ulla;
Trent, Jeffrey;
Bailey-Wilson, Joan

Publication type:

Correction Notice

Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness - The ECTIM, AXA, EVA and GENIC Studies.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 213, doi. 10.1038/sj.ejhg.5201143

By:

Poirier, Odette;
Nicaud, Viviane;
Gariépy, Jérôme;
Courbon, Dominique;
Elbaz, Alexis;
Morrison, Caroline;
Kee, Franck;
Evans, Alun;
Arveiler, Dominique;
Ducimetière, Pierre;
Amarenco, Pierre;
Cambien, François

Publication type:

Article

Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).

Published in:

2004

By:

Skvortsova, Veronika;
Shadrina, Marya;
Slominsky, Petr;
Levitsky, Gleb;
Kondratieva, Ekaterina;
Zherebtsova, Anna;
Levitskaya, Nina;
Alekhin, Alexander;
Serdyuk, Anna;
Limborska, Svetlana

Publication type:

Report

Who supports the support workers? Cross-sectional survey of support workers’ experience and views.

Published in:

2004

By:

McDonnell, Sharon;
Lynch, Sally Ann

Publication type:

Report

FMF revisited.

Published in:

2004

By:

Manna, Raffaele;
La Regina, Micaela;
Nucera, Gabriella;
Gasbarrini, Giovanni;
Touitou, Isabelle

Publication type:

Letter