Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 2

Results: 23

Exploration of gene–gene interaction effects using entropy-based methods.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 229, doi. 10.1038/sj.ejhg.5201921

By:

Dong, Changzheng;
Chu, Xun;
Wang, Ying;
Wang, Yi;
Jin, Li;
Shi, Tieliu;
Huang, Wei;
Li, Yixue

Publication type:

Article

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 261, doi. 10.1038/sj.ejhg.5201935

By:

Ugur, Sibel Aylin;
Tolun, Aslıhan

Publication type:

Article

Bases, Bits and Disease: Bases, bits and disease: a mathematical theory of human genetics.

Published in:

2008

By:

Moore, Jason H.

Publication type:

Letter

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 176, doi. 10.1038/sj.ejhg.5201938

By:

O'Dushlaine, Colm T.;
Dolan, Ciara;
Weale, Michael E.;
Stanton, Alice;
Croke, David T.;
Kalviainen, Reetta;
Eriksson, Kai;
Kantanen, Anne-Mari;
Gibson, Rachel A;
Hosford, David;
Sisodiya, Sanjay M.;
Gill, Michael;
Corvin, Aiden P.;
Morris, Derek W.;
Delanty, Norman;
Cavalleri, Gianpiero L.

Publication type:

Article

All I wanted to know about congenital developmental defects.

Published in:

2008

By:

Schinzel, Albert

Publication type:

Book Review

Patient mutations alter ATRX targeting to PML nuclear bodies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 192, doi. 10.1038/sj.ejhg.5201943

By:

Bérubé, Nathalie G.;
Healy, Jasmine;
Medina, Chantal F.;
Wu, Shaobo;
Hodgson, Todd;
Jagla, Magdalena;
Picketts, David J.

Publication type:

Article

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 153, doi. 10.1038/sj.ejhg.5201944

By:

Migeon, Barbara R.;
Pappas, Kara;
Stetten, Gail;
Trunca, Carolyn;
Jacobs, Patricia A.

Publication type:

Article

Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 202, doi. 10.1038/sj.ejhg.5201946

By:

Sillén, Anna;
Andrade, Jorge;
Lilius, Lena;
Forsell, Charlotte;
Axelman, Karin;
Odeberg, Jacob;
Winblad, Bengt;
Graff, Caroline

Publication type:

Article

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 209, doi. 10.1038/sj.ejhg.5201949

By:

Tabolacci, Elisabetta;
Pomponi, Maria Grazia;
Pietrobono, Roberta;
Chiurazzi, Pietro;
Neri, Giovanni

Publication type:

Article

A novel sampling design to explore gene-longevity associations: the ECHA study.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 236, doi. 10.1038/sj.ejhg.5201950

By:

De Rango, Francesco;
Dato, Serena;
Bellizzi, Dina;
Rose, Giuseppina;
Marzi, Erika;
Cavallone, Luca;
Franceschi, Claudio;
Skytthe, Axel;
Jeune, Bernard;
Cournil, Amandine;
Robine, Jean Marie;
Gampe, Jutta;
Vaupel, James W;
Mari, Vincenzo;
Feraco, Emidio;
Passarino, Giuseppe;
Novelletto, Andrea;
De Benedictis, Giovanna

Publication type:

Article

Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 252, doi. 10.1038/sj.ejhg.5201953

By:

Ribas, Gloria;
Milne, Roger L;
Gonzalez-Neira, Anna;
Benítez, Javier

Publication type:

Article

Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 215, doi. 10.1038/sj.ejhg.5201954

By:

Gao, Rui;
Matsuura, Tohru;
Coolbaugh, Mary;
Zühlke, Christine;
Nakamura, Koichiro;
Rasmussen, Astrid;
Siciliano, Michael J.;
Ashizawa, Tetsuo;
Lin, Xi

Publication type:

Article

ALS predisposition modifiers: Knock NOX, who's there? SOD1 mice still are.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 140, doi. 10.1038/sj.ejhg.5201961

By:

Valdmanis, Paul N.;
Kabashi, Edor;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

Article

Is the prevalence of Klinefelter syndrome increasing?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 163, doi. 10.1038/sj.ejhg.5201956

By:

Morris, Joan K;
Alberman, Eva;
Scott, Claire;
Jacobs, Patricia

Publication type:

Article

Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 265, doi. 10.1038/sj.ejhg.5201957

By:

Malik, Sajid;
Schott, Jörg;
Schiller, Julia;
Junge, Anna;
Baum, Erika;
Koch, Manuela C

Publication type:

Article

The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 223, doi. 10.1038/sj.ejhg.5201958

By:

Becker, Kristina;
Breitinger, Hans-Georg;
Humeny, Andreas;
Meinck, Hans-Michael;
Dietz, Bernd;
Aksu, Fuat;
Becker, Cord-Michael

Publication type:

Article

Carrier screening: look before you leap: Carrier screening for type 1 Gaucher disease: difficult questions.

Published in:

2008

By:

Borry, Pascal;
Clarke, Angus;
Dierickx, Kris

Publication type:

Letter

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 145, doi. 10.1038/sj.ejhg.5201955

By:

Masotti, Cibele;
Oliveira, Karina G.;
Poerner, Fabiana;
Splendore, Alessandra;
Souza, Josiane;
Freitas, Renato da Silva;
Zechi-Ceide, Roseli;
Guion-Almeida, Maria Leine;
Passos-Bueno, Maria Rita

Publication type:

Article

Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 243, doi. 10.1038/sj.ejhg.5201963

By:

Magalon, Hélène;
Patin, Etienne;
Austerlitz, Frédéric;
Hegay, Tatyana;
Aldashev, Almaz;
Quintana-Murci, Lluís;
Heyer, Evelyne

Publication type:

Article

Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 171, doi. 10.1038/sj.ejhg.5201966

By:

Blom, Elin S.;
Viswanathan, Jayashree;
Kilander, Lena;
Helisalmi, Seppo;
Soininen, Hilkka;
Lannfelt, Lars;
Ingelsson, Martin;
Glaser, Anna;
Hiltunen, Mikko

Publication type:

Article

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 270, doi. 10.1038/sj.ejhg.5201967

By:

Moheb, Lia Abbasi;
Tzschach, Andreas;
Garshasbi, Masoud;
Kahrizi, Kimia;
Darvish, Hossein;
Heshmati, Yaser;
Kordi, Alireza;
Najmabadi, Hossein;
Ropers, Hans Hilger;
Kuss, Andreas Walter

Publication type:

Article

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 184, doi. 10.1038/sj.ejhg.5201968

By:

Wieland, Ilse;
Makarov, Roman;
Reardon, William;
Tinschert, Sigrid;
Goldenberg, Alice;
Thierry, Patrick;
Wieacker, Peter

Publication type:

Article

Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance.

Published in:

2008

By:

Homsma, Sietske J. M.;
Huijgen, Roeland;
Middeldorp, Saskia;
Sijbrands, Eric J. G.;
Kastelein, John J. P.

Publication type:

Correction Notice