Works matching IS 10184813 AND DT 1999 AND VI 7

Results: 155

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 903, doi. 10.1038/sj.ejhg.5200399

By:

Amati, Francesca;
Conti, Emanuela;
Novelli, Antonio;
Bengala, Mario;
Digilio, Maria Cristina;
Marino, Bruno;
Giannotti, Aldo;
Gabrielli, Orazio;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

POSTERS TOPIC F: CHARACTERISATION OF MUTATIONS.

Published in:: 1999
Publication type:: Abstract

The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 897, doi. 10.1038/sj.ejhg.5200395

By:

Neerman-Arbez, Marguerite;
Antonarakis, Stylianos E;
Honsberger, Ariane;
Morris, Michael A

Publication type:

Article

MtDNA-related idiopathic dilated cardiomyopathy.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 847, doi. 10.1038/sj.ejhg.5200380

By:

Tessa, Alessandra;
Vilarinho, Laura;
Casali, Carlo;
Santorelli, Filippo M

Publication type:

Article

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 884, doi. 10.1038/sj.ejhg.5200398

By:

Kjaergaard, Susanne;
Skovby, Flemming;
Schwartz, Marianne

Publication type:

Article

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 757, doi. 10.1038/sj.ejhg.5200368

By:

Hirokawa, Hidetetsu;
Okano, Yoshiyuki;
Asada, Minoru;
Fujimoto, Akie;
Suyama, Itsujin;
Isshiki, Gen

Publication type:

Article

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 849, doi. 10.1038/sj.ejhg.5200382

By:

Guilbot, Angèle;
Ravisé, Nicole;
Bouhouche, Ahmed;
Coullin, Philippe;
Birouk, Nazha;
Maisonobe, Thierry;
Kuntzer, Thierry;
Vial, Christophe;
Grid, Djamel;
Brice, Alexis;
LeGuern, Eric

Publication type:

Article

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 860, doi. 10.1038/sj.ejhg.5200383

By:

Veldhuisen, Barbera;
Spruit, Lia;
Dauwerse, Hans G;
Breuning, Martijn H;
Peters, Dorien JM

Publication type:

Article

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 920, doi. 10.1038/sj.ejhg.5200384

By:

Meuleman, Jan;
Kuhlenbäumer, Gregor;
Schirmacher, Anja;
Wehnert, Manfred;
De Jonghe, Peter;
De Vriendt, Els;
Young, Peter;
Airaksinen, Eila;
Pou-Serradell, Adolfo;
Prats, José-Maria;
Ringelstein, Bernd;
Stögbauer, Florian;
Van Broeckhoven, Christine;
Timmerman, Vincent

Publication type:

Article

Multiple APC mutations in sporadic flat colorectal adenomas.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 928, doi. 10.1038/sj.ejhg.5200386

By:

van Wyk, René;
Slezak, Premysl;
Kotze, Maritha J;
Jaramillo, Edgar;
Koizumi, Koichi;
Grobbelaar, Johanna J

Publication type:

Article

Germline and gonosomal mosaicism in the ATR-X syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 933, doi. 10.1038/sj.ejhg.5200387

By:

Bachoo, Satvinder;
Gibbons, Richard J

Publication type:

Article

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 873

By:

Röthlisberger, Benno;
Kotzot, Dieter;
Brecevic, Lukrecija;
Koehler, Michael;
Balmer, Damina;
Binkert, Franz;
Schinzel, Albert

Publication type:

Article

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 937, doi. 10.1038/sj.ejhg.5200390

By:

De Brasi, D;
Esposito, T;
Rossi, M;
Parenti, G;
Sperandeo, M P;
Zuppaldi, A;
Bardaro, T;
Ambruzzi, M A;
Zelante, L;
Ciccodicola, A;
Sebastio, G;
D'Urso, M;
Andria, G

Publication type:

Article

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 889, doi. 10.1038/sj.ejhg.5200392

By:

Stevanin, G;
David, G;
Dürr, A;
Giunti, P;
Benomar, A;
Abada-Bendib, M;
Lee, M S;
Agid, Y;
Brice, A

Publication type:

Article

Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 791, doi. 10.1038/sj.ejhg.5200369

By:

Hollox, Edward J;
Poulter, Mark;
Wang, Yangxi;
Krause, Amanda;
Swallow, Dallas M

Publication type:

Article

Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 941, doi. 10.1038/sj.ejhg.5200410

By:

Dianzani, Irma;
Cotton, Richard GH;
Camaschella, Clara;
Ponzone, Alberto;
Piazza, Alberto;
Landegren, Ulf

Publication type:

Article

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

Probing the Gene eXpression Database for candidate genes.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 910, doi. 10.1038/sj.ejhg.5200405

By:

Steensel, Maurice AM van;
Celli, J;
van Bokhoven, J H;
Brunner, H G

Publication type:

Article

Revised exon–intron structure of human JAK3 locus.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 837, doi. 10.1038/sj.ejhg.5200375

By:

Brooimans, Rik A;
van der Slot, Annemarie J;
van den Berg, Adriënne JAM;
Zegers, Ben JM

Publication type:

Article

Corrigendum.

Published in:

1999

By:

Grierson, A.J.

Publication type:

Correction Notice

Author index.

Published in:: European Journal of Human Genetics, 1999, v. 7, n. 8, p. 945, doi. 10.1038/sj.ejhg.5200413
Publication type:: Article

Keyword index.

Published in:: European Journal of Human Genetics, 1999, v. 7, n. 8, p. 949, doi. 10.1038/sj.ejhg.5200414
Publication type:: Article

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 778, doi. 10.1038/sj.ejhg.5200363

By:

Genuardi, Maurizio;
Carrara, Stefania;
Anti, Marcello;
Ponz de Leòn, Maurizio;
Viel, Alessandra

Publication type:

Article

Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 783, doi. 10.1038/sj.ejhg.5200365

By:

Enlund, Fredrik;
Samuelsson, Lena;
Enerbäck, Charlotta;
Inerot, Annica;
Wahlström, Jan;
Yhr, Maria;
Torinsson, Åsa;
Riley, John;
Swanbeck, Gunnar;
Martinsson, Tommy

Publication type:

Article

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 801, doi. 10.1038/sj.ejhg.5200373

By:

Duijn, Cornelia M van;
Cruts, Marc;
Theuns, Jessie;
Van Gassen, Geert;
Backhovens, Hubert;
van den Broeck, Marleen;
Wehnert, Anita;
Serneels, Sally;
Hofman, Albert;
Van Broeckhoven, Christine

Publication type:

Article

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 765, doi. 10.1038/sj.ejhg.5200370

By:

Eraslan, Serpil;
Kayserili, Hülya;
Apak, Memnune Yüksel;
Kirdar, Betül

Publication type:

Article

BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 833, doi. 10.1038/sj.ejhg.5200371

By:

Gershoni-Baruch, Ruth;
Dagan, Efrat;
Fried, Getta;
Kepten, Ilana;
Robinson, Eliezer

Publication type:

Article

A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 841, doi. 10.1038/sj.ejhg.5200372

By:

Pang, Joanna;
Allotey, Rebecca;
Wadia, Noshir;
Sasaki, Hidenao;
Bindoff, Laurence;
Chamberlain, Susan

Publication type:

Article

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 828, doi. 10.1038/sj.ejhg.5200376

By:

Ahmad, Wasim;
De Fusco, Maurizio;
Faiyaz ul Haque, Muhammad;
Aridon, Paolo;
Sarno, Tiziana;
Sohail, Muhammad;
ul Haque, Sayed;
Ahmad, Mahmud;
Ballabio, Andrea;
Franco, Brunella;
Casari, Giorgio

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

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 771, doi. 10.1038/sj.ejhg.5200374

By:

Larsen, Lars Allan;
Armstrong, Judith SM;
Grønskov, Karen;
Hjalgrim, Helle;
Brøndum-Nielsen, Karen;
Hasholt, Lis;
Nørgaard-Pedersen, Bent;
Vuust, Jens

Publication type:

Article

POSTERS TOPIC E: MOLECULAR GENETICS.

Published in:: 1999
Publication type:: Abstract

31st Annual meeting of the European Society of Human Genetics. Geneva, Switzerland, 29 May-1 June 1999. Abstracts.

Published in:: European Journal of Human Genetics, 1999, v. 7, p. 1
Publication type:: Article

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 807, doi. 10.1038/sj.ejhg.5200377

By:

Martin, Sam;
Richards, Allan J;
Yates, John RW;
Scott, John D;
Pope, Michael;
Snead, Martin P

Publication type:

Article

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 748, doi. 10.1038/sj.ejhg.5200378

By:

Bartsch, Oliver;
Wagner, Annett;
Hinkel, Georg K;
Krebs, Petra;
Stumm, Markus;
Schmalenberger, Bernhard;
Böhm, Sabine;
Balci, Sevim;
Majewski, Frank

Publication type:

Article

Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 821, doi. 10.1038/sj.ejhg.5200381

By:

O'Dell, Sandra D;
Bujac, Sarah R;
Miller, George J;
Day, Ian NM

Publication type:

Article

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 815, doi. 10.1038/sj.ejhg.5200385

By:

Roberts, Emma;
Jackson, Andrew P;
Carradice, Abigail C;
Deeble, V Jayne;
Mannan, Jovaria;
Rashid, Yasmin;
Jafri, Hussain;
McHale, Duncan P;
Markham, Alex F;
Lench, Nicholas J;
Woods, C Geoffrey

Publication type:

Article

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 737, doi. 10.1038/sj.ejhg.5200396

By:

Tassabehji, Mayada;
Carette, Martin;
Wilmot, Carrie;
Donnai, Dian;
Read, Andrew P;
Metcalfe, Kay

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

POSTERS TOPIC H: POPULATION AND QUANTITATIVE GENETICS.

Published in:: 1999
Publication type:: Abstract

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

POSTERS TOPIC G: GENETIC MAPPING.

Published in:: 1999
Publication type:: Abstract

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