Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 11

Results: 12

High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 811, doi. 10.1038/sj.ejhg.5200721

By:

Zorick, Todd S;
Mustacchi, Zan;
Bando, Silvia Yumi;
Zatz, Mayana;
Moreira-Filho, Carlos Alberto;
Olsen, Björn;
Passos-Bueno, Maria Rita

Publication type:

Article

Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr<sub>3492</sub>Ile in the apolipoprotein B gene.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 836, doi. 10.1038/sj.ejhg.5200720

By:

Bednarska-Makaruk, Małgorzata;
Bisko, Mariola;
Puławska, Maria F;
Hoffman-Zacharska, Dorota;
Rodo, Maria;
Roszczynko, Marta;
Solik-Tomassi, Alicja;
Broda, Grażyna;
Polakowska, Maria;
Pytlak, Aleksandra;
Wehr, Hanna

Publication type:

Article

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 815, doi. 10.1038/sj.ejhg.5200718

By:

Holst, Henrik Uffe;
Dagnaes-Hansen, Frederik;
Corydon, Thomas Juhl;
Andreasen, Per Hove;
Jørgensen, Malene Munk;
Kølvraa, Steen;
Bolund, Lars;
Jensen, Thomas Gryesten

Publication type:

Article

Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 829, doi. 10.1038/sj.ejhg.5200716

By:

Popova, Svetlana N;
Slominsky, P A;
Pocheshnova, E A;
Balanovskaya, E V;
Tarskaya, L A;
Bebyakova, N A;
Bets, L V;
Ivanov, V P;
Livshits, L A;
Khusnutdinova, E K;
Spitcyn, V A;
Limborska, S A

Publication type:

Article

Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 849, doi. 10.1038/sj.ejhg.5200725

By:

Medlej-Hashim, Myrna;
Petit, Isabelle;
Adib, Salim;
Chouery, Eliane;
Salem, Nabiha;
Delague, Valérie;
Rawashdeh, Mohammed;
Mansour, Issam;
Lefranc, Gérard;
Naman, Roger;
Loiselet, Jacques;
Lecron, Jean-Claude;
Serre, Jean-Louis;
Mégarbané, André

Publication type:

Article

ATB<sup>0</sup>/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 860, doi. 10.1038/sj.ejhg.5200726

By:

Larriba, Sara;
Sumoy, Lauro;
Ramos, María D;
Giménez, Javier;
Estivill, Xavier;
Casals, Teresa;
Nunes, Virginia

Publication type:

Article

Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 843, doi. 10.1038/sj.ejhg.5200723

By:

Cardoso, Carla S;
Oliveira, Pedro;
Porto, Graça;
Oberkanins, Christian;
Mascarenhas, Mónica;
Rodrigues, Pedro;
Kury, Fritz;
de Sousa, Maria

Publication type:

Article

Effect of misspecification of gene frequency on the two-point LOD score.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 855, doi. 10.1038/sj.ejhg.5200724

By:

Pal, Deb K;
Durner, Martina;
Greenberg, David A

Publication type:

Article

Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 877, doi. 10.1038/sj.ejhg.5200722

By:

Kveiborg, Marie;
Gravholt, Claus Højbjerg;
Kassem, Moustapha

Publication type:

Article

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728

By:

Goedbloed, Miriam A;
Nellist, Mark;
Verhaaf, Brenda;
Reuser, Arnold J J;
Lindhout, Dick;
Sunde, Lone;
Verhoef, Senno;
Halley, Dicky J J;
van den Ouweland, Ans M W

Publication type:

Article

A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 873, doi. 10.1038/sj.ejhg.5200729

By:

del Giudice, Emanuele Miraglia;
Coppola, Giangennaro;
Bellini, Giulia;
Cirillo, Grazia;
Scuccimarra, Goffredo;
Pascotto, Antonio

Publication type:

Article

Indication of linkage and genetic heterogeneity of asthma according to age at onset on chromosome 7q in 107 French EGEA families.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 867, doi. 10.1038/sj.ejhg.5200732

By:

Dizier, Marie-Hélène;
Besse-Schmittler, Céline;
Guilloud-Bataille, Michel;
Selinger-Leneman, Hana;
Kauffmann, Francine;
Clerget-Darpoux, Françoise;
Demenais, Florence

Publication type:

Article