Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 1

Results: 14

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 63, doi. 10.1038/sj.ejhg.5200573

By:

Aganna, Ebun;
Aksentijevich, Ivona;
Hitman, Graham A;
Kastner, Daniel L;
Hoepelman, Andy IM;
Posma, Fokke D;
Zweers, Egbert JK;
McDermott, Michael F

Publication type:

Article

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 70, doi. 10.1038/sj.ejhg.5200569

By:

López-Bigas, N.;
Rabionet, R.;
Arbonés, M.L.;
Estivill, X.

Publication type:

Article

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 59, doi. 10.1038/sj.ejhg.5200550

By:

Moilanen, Jukka S;
Majamaa, Kari

Publication type:

Article

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 5, doi. 10.1038/sj.ejhg.5200548

By:

Matsumoto, Naomichi;
Leventer, Richard J;
Kuc, Julie A;
Mewborn, Stephanie K;
Dudlicek, Laura L;
Ramocki, Melissa B;
Pilz, Daniela T;
Mills, Patti L;
Das, Soma;
Ross, M Elizabeth;
Ledbetter, David H;
Dobyns, William B

Publication type:

Article

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 51, doi. 10.1038/sj.ejhg.5200574

By:

Mansour, Issam;
Delague, Valérie;
Cazeneuve, Cécile;
Dodé, Catherine;
Chouery, Eliane;
Pêcheux, Christophe;
Medlej-Hashim, Myrna;
Salem, Nabiha;
El Zein, Loubna;
Levan-Petit, Isabelle;
Lefranc, Gérard;
Goossens, Michel;
Delpech, Marc;
Amselem, Serge;
Loiselet, Jacques;
Grateau, Gilles;
Mégarbane, André;
Naman, Roger

Publication type:

Article

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 1, doi. 10.1038/sj.ejhg.5200575

By:

Verloes, Alain;
Gillerot, Yves;
Van Maldergem, Lionel;
Schoos, Roland;
Herens, Christian;
Jamar, Mauricette;
Dideberg, Vinciane;
Lesenfants, Sylviane;
Koulischer, Lucien

Publication type:

Article

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 34, doi. 10.1038/sj.ejhg.5200576

By:

Irrthum, Alexandre;
Brouillard, Pascal;
Enjolras, Odile;
Gibbs, Neil F;
Eichenfield, Lawrence F;
Olsen, Bjorn R;
Mulliken, John B;
Boon, Laurence M;
Vikkula, Miikka

Publication type:

Article

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 22, doi. 10.1038/sj.ejhg.5200577

By:

Nebel, Almut;
Filon, Dvora;
Hohoff, Carsten;
Faerman, Marina;
Brinkmann, Bernd;
Oppenheim, Ariella

Publication type:

Article

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 13, doi. 10.1038/sj.ejhg.5200582

By:

Tiecke, Frank;
Katzke, Stefanie;
Booms, Patrick;
Robinson, Peter N;
Neumann, Luitgard;
Godfrey, Maurice;
Mathews, Kurt R;
Scheuner, Maren;
Hinkel, Georg Klaus;
Brenner, Rolf E;
Hövels-Gürich, Hedwig H;
Hagemeier, Christian;
Fuchs, Josefine;
Skovby, Flemming;
Rosenberg, Thomas

Publication type:

Article

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200579

By:

Witsch-Baumgartner, M;
Ciara, E;
Löffler, J;
Menzel, H J;
Seedorf, U;
Burn, J;
Gillessen-Kaesbach, G;
Hoffmann, G F;
Fitzky, B U;
Mundy, H;
Clayton, P;
Kelley, R I;
Krajewska-Walasek, M;
Utermann, G

Publication type:

Article

CFTR and asthma in the French EGEA study.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 67, doi. 10.1038/sj.ejhg.5200578

By:

de Cid, Rafael;
Chomel, Jean-Claude;
Lazaro, Conxi;
Sunyer, Jordi;
Baudis, Marlene;
Casals, Teresa;
Le Moual, Nicole;
Kitzis, Alain;
Feingold, Josue;
Anto, Josep;
Estivill, Xavier;
Kauffmann, Francine

Publication type:

Article

An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2–q11.2 in a large Turkish pedigree.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 39, doi. 10.1038/sj.ejhg.5200584

By:

Radhakrishna, U;
Senol, S;
Herken, H;
Gucuyener, K;
Gehrig, C;
Blouin, J-L;
Akarsu, N A;
Antonarakis, S E

Publication type:

Article

Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 27, doi. 10.1038/sj.ejhg.5200580

By:

Stefan, Mihaela;
Stefanescu, Gheorge;
Gavrila, Lucian;
Terrenato, Luciano;
Jobling, Mark A;
Malaspina, Patrizia;
Novelletto, Andrea

Publication type:

Article

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 56, doi. 10.1038/sj.ejhg.5200581

By:

Hutchin, Tim P;
Lench, Nicholas J;
Arbuzova, Svetlana;
Markham, Alexander F;
Mueller, Robert F

Publication type:

Article