Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 6

Results: 19

More evidence that founder effects exist in the European population.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 623, doi. 10.1038/sj.ejhg.5200357

By:

Chataway, Jeremy;
Sawcer, Stephen;
Feakes, Robert;
Coraddu, Francesca;
Broadley, Simon;
Gray, Julia;
Compston, Alastair

Publication type:

Article

Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 659, doi. 10.1038/sj.ejhg.5200351

By:

Tilley, Louise;
Morgan, Kevin;
Grainger, Joe;
Marsters, Peter;
Morgan, Linda;
Lowe, James;
Xuereb, John;
Wischik, Charles;
Harrington, Charles;
Kalsheker, Noor

Publication type:

Article

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 724, doi. 10.1038/sj.ejhg.5200323

By:

Larsen, Lars Allan;
Fosdal, Inger;
Andersen, Paal Skytt;
Kanters, Jørgen K;
Vuust, Jens;
Wettrell, Göran;
Christiansen, Michael

Publication type:

Article

Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer's disease patients.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 652, doi. 10.1038/sj.ejhg.5200342

By:

Hiltunen, Mikko;
Mannermaa, Arto;
Koivisto, Anne Maria;
Lehtovirta, Maarit;
Helisalmi, Seppo;
Ryynänen, Markku;
Riekkinen, Sr, Paavo;
Soininen, Hilkka

Publication type:

Article

Allelic heterogeneity of alkaptonuria in Central Europe.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 645

By:

Müller, C R;
Fregin, A;
Srsen, S;
Srsnova, K;
Halliger-Keller, B;
Felbor, U;
Seemanova, E;
Kress, W

Publication type:

Article

Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 695, doi. 10.1038/sj.ejhg.5200344

By:

De Rosa, Marina;
Scarano, Maria I;
Panariello, Luigi;
Carlomagno, Nicola;
Rossi, Giovanni B;
Tempesta, Alfonso;
Borgheresi, Patrizia;
Renda, Andrea;
Izzo, Paola

Publication type:

Article

Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 671, doi. 10.1038/sj.ejhg.5200349

By:

McGowan-Jordan, Jean;
Stoddard, Karen;
Podolsky, Luba;
Orrbine, Elaine;
McLaine, Peter;
Town, Margaret;
Goodyer, Paul;
MacKenzie, Alex;
Heick, Hans

Publication type:

Article

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 687, doi. 10.1038/sj.ejhg.5200352

By:

Miano, Maria Giuseppina;
Testa, Francesco;
Strazzullo, Maria;
Trujillo, Mariajose;
De Bernardo, Carmelilia;
Grammatico, Barbara;
Simonelli, Francesca;
Mangino, Massimo;
Torrente, Isabella;
Ruberto, Giulio;
Beneyto, Magdalena;
Antinolo, Guillermo;
Rinaldi, Ernesto;
Danesino, Cesare;
Ventruto, Valerio;
D'Urso, Michele;
Ayuso, Carmen;
Baiget, Monserrat;
Ciccodicola, Alfredo

Publication type:

Article

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 625, doi. 10.1038/sj.ejhg.5200353

By:

Laiho, Elina;
Niemi, Kirsti-Maria;
Ignatius, Jaakko;
Kere, Juha;
Palotie, Aarno;
Saarialho-Kere, Ulpu

Publication type:

Article

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 633, doi. 10.1038/sj.ejhg.5200355

By:

Dufourcq-Lagelouse, Rémi;
Lambert, Nathalie;
Duval, Michel;
Viot, Géraldine;
Vilmer, Etienne;
Fischer, Alain;
Prieur, Marguerite;
de Saint Basile, Geneviève

Publication type:

Article

Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 704

By:

Pucharcós, Carles;
Fuentes, Juan-José;
Casas, Caty;
de la Luna, Susana;
Alcántara, Soledad;
Arbonés, Maria L;
Soriano, Eduardo;
Estivill, Xavier;
Pritchard, Melanie

Publication type:

Article

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 729, doi. 10.1038/sj.ejhg.5200358

By:

Miedzybrodzka, Z;
Hattersley, A T;
Ellard, S;
Pearson, D;
de Silva, D;
Harvey, R;
Haites, N

Publication type:

Article

Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 733

By:

Previderé, Carlo;
Stuppia, Liborio;
Gatta, Valentina;
Fattorini, Paolo;
Palka, Giandomenico;
Tyler-Smith, Chris

Publication type:

Article

Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 679, doi. 10.1038/sj.ejhg.5200360

By:

Neonato, Maria-Grazia;
Lu, Chang Yong;
Guilloud-Bataille, Monique;
Lapouméroulie, Claudine;
Nabeel-Jassim, Hassan;
Dabit, Dominique;
Girot, Robert;
Krishnamoorthy, Rajagopal;
Feingold, Josué;
Besmond, Claude;
Elion, Jacques

Publication type:

Article

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 664

By:

Hästbacka, Johanna;
Kerrebrock, Anne;
Mokkala, Kati;
Clines, Gregory;
Lovett, Michael;
Kaitila, Ilkka;
de la Chapelle, Albert;
Lander, Eric S

Publication type:

Article

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 638, doi. 10.1038/sj.ejhg.5200362

By:

Gillessen-Kaesbach, Gabriele;
Demuth, Stephanie;
Thiele, Hannelore;
Theile, Ursel;
Lich, Christina;
Horsthemke, Bernhard

Publication type:

Article

MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 621, doi. 10.1038/sj.ejhg.5200364

By:

DeLozier-Blanchet, Célia D;
Haenggeli, Charles-Antoine;
Bottani, Armand

Publication type:

Article

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 717, doi. 10.1038/sj.ejhg.5200366

By:

Veiga-da-Cunha, Maria;
Gerin, Isabelle;
Chen, Yuan-Tsong;
Lee, Philip J;
Leonard, James V;
Maire, Irène;
Wendel, Udo;
Vikkula, Miikka;
Van Schaftingen, Emile

Publication type:

Article

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 713, doi. 10.1038/sj.ejhg.5200367

By:

Ausems, M G E M;
Verbiest, J;
Hermans, M M P;
Kroos, M A;
Beemer, F A;
Wokke, J H J;
Sandkuijl, L A;
Reuser, A J J;
van der Ploeg, A T

Publication type:

Article