Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 7

Results: 17

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 846, doi. 10.1038/sj.ejhg.5201623

By:

Piotrowska, Ewa;
Jakóbkiewicz-Banecka, Joanna;
Barańska, Sylwia;
Tylki-Szymańska, Anna;
Czartoryska, Barbara;
Węgrzyn, Alicja;
Węgrzyn, Grzegorz

Publication type:

Article

Congenital bilateral absence of the vas deferens and recombination at CFTR.

Published in:

2006

By:

Haig, David

Publication type:

Letter

Evolutionary Genetics: Is brain evolution still continuing in modern humans?

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 799, doi. 10.1038/sj.ejhg.5201624

By:

Stern, Rowena;
Woods, Christopher Geoffrey

Publication type:

Article

Reply to Professor Haig.

Published in:

2006

By:

Pignatti, Pier Franco

Publication type:

Letter

The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 860, doi. 10.1038/sj.ejhg.5201632

By:

Schelleman, Hedi;
Klungel, Olaf H.;
Witteman, Jacqueline C. M.;
Hofman, Albert;
van Duijn, Cornelia M.;
de Boer, Anthonius;
Stricker, Bruno H. C. H.

Publication type:

Article

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 838, doi. 10.1038/sj.ejhg.5201615

By:

Tomatsu, Shunji;
Sukegawa, Kazuko;
Trandafirescu, Georgeta G;
Gutierrez, Monica A;
Nishioka, Tatsuo;
Yamaguchi, Seiji;
Orii, Tadao;
Froissart, Roseline;
Maire, Irene;
Chabas, Amparo;
Cooper, Alan;
Di Natale, Paola;
Gal, Andreas;
Noguchi, Akihiko;
Sly, William S

Publication type:

Article

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 831, doi. 10.1038/sj.ejhg.5201617

By:

Thomas, N. Simon;
Durkie, Miranda;
Potts, Gemma;
Sandford, Richard;
Van Zyl, Berendine;
Youings, Sheila;
Dennis, Nicholas R.;
Jacobs, Patricia A.

Publication type:

Article

Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 816, doi. 10.1038/sj.ejhg.5201618

By:

Marchington, David R.;
Scott-Brown, Martin;
Barlow, David H.;
Poulton, Joanna

Publication type:

Article

Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 876, doi. 10.1038/sj.ejhg.5201620

By:

Singh, Krishna Kumar;
Shukla, Praphulla Chandra;
Rommel, Kathrin;
Schmidtke, Jörg;
Arslan-Kirchner, Mine

Publication type:

Article

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 853, doi. 10.1038/sj.ejhg.5201628

By:

Belvederesi, Laura;
Bianchi, Francesca;
Loretelli, Cristian;
Gagliardini, Daniela;
Galizia, Eva;
Bracci, Raffaella;
Rosati, Saverio;
Bearzi, Italo;
Viel, Alessandra;
Cellerino, Riccardo;
Porfiri, Emilio

Publication type:

Article

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 824, doi. 10.1038/sj.ejhg.5201629

By:

Gloyn, Anna L.;
Diatloff-Zito, Catherine;
Edghill, Emma L.;
Bellanné-Chantelot, Christine;
Nivot, Sylvie;
Coutant, Régis;
Ellard, Sian;
Hattersley, Andrew T.;
Robert, Jean Jacques

Publication type:

Article

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 880, doi. 10.1038/sj.ejhg.5201630

By:

Ylisaukko-oja, Sanna K.;
Cybulski, Cezary;
Lehtonen, Rainer;
Kiuru, Maija;
Matyjasik, Joanna;
Szymañska, Anna;
Szymañska-Pasternak, Jolanta;
Dyrskjot, Lars;
Butzow, Ralf;
Orntoft, Torben F;
Launonen, Virpi;
Lubiñski, Jan;
Aaltonen, Lauri A

Publication type:

Article

Localization of candidate regions for a novel gene for Kartagener syndrome.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 809, doi. 10.1038/sj.ejhg.5201631

By:

Gutierrez-Roelens, Ilse;
Sluysmans, Thierry;
Jorissen, Mark;
Amyere, Mustapha;
Vikkula, Miikka

Publication type:

Article

Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 802, doi. 10.1038/sj.ejhg.5201626

By:

Hjörleifsson, Stefán;
Schei, Edvin

Publication type:

Article

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 884, doi. 10.1038/sj.ejhg.5201633

By:

Vasudevan, Pradeep C.;
Twigg, Stephen R. F.;
Mulliken, John B.;
Cook, Jackie A.;
Quarrell, Oliver W. J.;
Wilkie, Andrew O. M.

Publication type:

Article

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 867, doi. 10.1038/sj.ejhg.5201634

By:

Finck, Anemone;
Van der Meer, Jos W. M.;
Schäffer, Alejandro A.;
Pfannstiel, Jessica;
Fieschi, Claire;
Plebani, Alessandro;
Webster, A. David B.;
Hammarström, Lennart;
Grimbacher, Bodo

Publication type:

Article

Handy Book on Cancer Genetics Risk Assessment.

Published in:

2006

By:

Kristoffersson, Ulf

Publication type:

Book Review