Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 8

Results: 19

The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 902, doi. 10.1038/sj.ejhg.5201439

By:

Babalini, Carla;
Martínez-Labarga, Cristina;
Tolk, Helle-Viivi;
Kivisild, Toomas;
Giampaolo, Rita;
Tarsi, Tiziana;
Contini, Irene;
Barać, Lovorka;
Janićijević, Branka;
Klarić, Irena Martinović;
Peričić, Marijana;
Sujoldžić, Anita;
Villems, Richard;
Biondi, Gianfranco;
Rudan, Pavao;
Rickards, Olga

Publication type:

Article

Typing without calling the allele: a strategy for inferring SNP haplotypes.

Published in:

2005

By:

Barzuza, Tamar;
Beckmann, Jacques S;
Shamir, Ron;
Pe'er, Itsik

Publication type:

Letter

Bioinformatics: Computers or clinicians for complex disease risk assessment?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 893, doi. 10.1038/sj.ejhg.5201441

By:

Hoppe, Carolyn

Publication type:

Article

A most welcome new edition in a fast advancing field.

Published in:

2005

By:

Jodice, Carla

Publication type:

Book Review

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 913, doi. 10.1038/sj.ejhg.5201415

By:

Jannot, Anne-Sophie;
Meziani, Roubila;
Bertrand, Guylene;
Gérard, Benedicte;
Descamps, Vincent;
Archimbaud, Alain;
Picard, Catherine;
Ollivaud, Laurence;
Basset-Seguin, Nicole;
Kerob, Delphine;
Lanternier, Guy;
Lebbe, Celeste;
Saiag, P.;
Crickx, Beatrice;
Clerget-Darpoux, Françoise;
Grandchamp, Bernard;
Soufir, Nadem

Publication type:

Article

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 983, doi. 10.1038/sj.ejhg.5201421

By:

Wehner, Maria;
Mangold, Elisabeth;
Sengteller, Marlies;
Friedrichs, Nicolaus;
Aretz, Stefan;
Friedl, Waltraut;
Propping, Peter;
Pagenstecher, Constanze

Publication type:

Article

The pick of the crop.

Published in:

2005

By:

Walley, Andrew John

Publication type:

Book Review

Measured haplotype analysis of the aldosterone synthase gene and heart size.

Published in:

2005

By:

Mayosi, Bongani M.;
Keavney, Bernard;
Watkins, Hugh;
Farrall, Martin

Publication type:

Correction Notice

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 947, doi. 10.1038/sj.ejhg.5201428

By:

Derks, Terry G. J.;
Duran, Marinus;
Waterham, Hans R.;
Reijngoud, Dirk-Jan;
ten Kate, Leo P.;
Smit, G. Peter A.

Publication type:

Article

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 921, doi. 10.1038/sj.ejhg.5201429

By:

Borg, Isabella;
Freude, Kristine;
Kübart, Sabine;
Hoffmann, Kirsten;
Menzel, Corinna;
Laccone, Franco;
Firth, Helen;
Ferguson-Smith, Malcolm A.;
Tommerup, Niels;
Ropers, Hans-Hilger;
Sargan, David;
Kalscheuer, Vera M.

Publication type:

Article

High-throughput pedigree drawing.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 987, doi. 10.1038/sj.ejhg.5201430

By:

Mäkinen, Ville-Petteri;
Parkkonen, Maija;
Wessman, Maija;
Groop, Per-Henrik;
Kanninen, Timo;
Kaski, Kimmo

Publication type:

Article

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 928, doi. 10.1038/sj.ejhg.5201433

By:

Klar, Joakim;
Åsling, Bengt;
Carlsson, Birgit;
Ulvsbäck, Magnus;
Dellsén, Anita;
Ström, Carina;
Rhedin, Magdalena;
Forslund, Anders;
Annerén, Göran;
Ludvigsson, Jonas F.;
Dahl, Niklas

Publication type:

Article

Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 953, doi. 10.1038/sj.ejhg.5201435

By:

Fiorentino, Francesco;
Kahraman, Semra;
Karadayi, Hüseyin;
Biricik, Anil;
Sertyel, Semra;
Karlikaya, Güvenc;
Saglam, Yaman;
Podini, Daniele;
Nuccitelli, Andrea;
Baldi, Marina

Publication type:

Article

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 978, doi. 10.1038/sj.ejhg.5201436

By:

Frosk, Patrick;
Del Bigio, Marc R.;
Wrogemann, Klaus;
Greenberg, Cheryl R.

Publication type:

Article

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 959, doi. 10.1038/sj.ejhg.5201437

By:

Stuppia, Liborio;
Antonucci, Ivana;
Binni, Francesco;
Brandi, Alessandra;
Grifone, Nicoletta;
Colosimo, Alessia;
De Santo, Mariella;
Gatta, Valentina;
Gelli, Gianfranco;
Guida, Valentina;
Majore, Silvia;
Calabrese, Giuseppe;
Palka, Chiara;
Ravani, Anna;
Rinaldi, Rosanna;
Tiboni, Gian Mario;
Ballone, Enzo;
Venturoli, Anna;
Ferlini, Alessandra;
Torrente, Isabella

Publication type:

Article

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 965, doi. 10.1038/sj.ejhg.5201438

By:

Niemi, Anna-Kaisa;
Majamaa, Kari

Publication type:

Article

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 970, doi. 10.1038/sj.ejhg.5201445

By:

Mansouri, Mahmoud Reza;
Marklund, Lena;
Gustavsson, Peter;
Davey, Edward;
Carlsson, Birgit;
Larsson, Catharina;
White, Irene;
Gustavson, Karl-Henrik;
Dahl, Niklas

Publication type:

Article

Genomics: The amazing complexity of the human transcriptome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 894, doi. 10.1038/sj.ejhg.5201459

By:

Frith, Martin C.;
Pheasant, Michael;
Mattick, John S.

Publication type:

Article

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446

By:

Bongers, Ernie M. H. F.;
Huysmans, Frans T.;
Levtchenko, Elena;
de Rooy, Jacky W.;
Blickman, Johan G.;
Admiraal, Ronald J. C.;
Huygen, Patrick L. M.;
Cruysberg, Johannes R. M.;
Toolens, Pauline A. M. P.;
Prins, Judith B.;
Krabbe, Paul F. M.;
Borm, George F.;
Schoots, Jeroen;
van Bokhoven, Hans;
van Remortele, Angela M. F.;
Hoefsloot, Lies H.;
van Kampen, Albert;
Knoers, Nine V. A. M.

Publication type:

Article