Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 3

Results: 21

Triple X syndrome: a review of the literature.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 265, doi. 10.1038/ejhg.2009.109

By:

Otter, Maarten;
Schrander-Stumpel, Constance T. R. M.;
Curfs, Leopold M. G.

Publication type:

Article

Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 370, doi. 10.1038/ejhg.2009.131

By:

Ke Yu;
Jing Zhang;
Jiyuan Zhang;
Chao Dou;
Shaohua Gu;
Yi Xie;
Yumin Mao;
Chaoneng Ji

Publication type:

Article

Research and applied medical genetics: filling the gap.

Published in:

2010

By:

Ferlini, Alessandra

Publication type:

Book Review

‘Me, Myself, and Why. Understanding your own genome and evolutionary history’.

Published in:

2010

By:

de Knijff, Peter

Publication type:

Book Review

Comparison of participant information and informed consent forms of five European studies in genetic isolated populations.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 296, doi. 10.1038/ejhg.2009.155

By:

Mascalzoni, Deborah;
Janssens, A. Cecile J. W.;
Stewart, Alison;
Pramstaller, Peter;
Gyllensten, Ulf;
Rudan, Igor;
van Duijn, Cornelia M.;
Wilson, James F.;
Campbell, Harry;
Quillan, Ruth Mc

Publication type:

Article

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 342, doi. 10.1038/ejhg.2009.157

By:

Dastani, Zari;
Pajukanta, Päivi;
Marcil, Michel;
Rudzicz, Nicholas;
Ruel, Isabelle;
Bailey, Swneke D.;
Lee, Jenny C.;
Lemire, Mathieu;
Faith, Janet;
Platko, Jill;
Rioux, John;
Hudson, Thomas J.;
Gaudet, Daniel;
Engert, James C.;
Genest, Jacques

Publication type:

Article

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159

By:

Rio, Marlène;
Malan, Valérie;
Boissel, Sarah;
Toutain, Annick;
Royer, Ghislaine;
Gobin, Stéphanie;
Morichon-Delvallez, Nicole;
Turleau, Catherine;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Vekemans, Michel;
Colleaux, Laurence

Publication type:

Article

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 291, doi. 10.1038/ejhg.2009.163

By:

Tzschach, Andreas;
Bisgaard, Anne-Marie;
Kirchhoff, Maria;
Graul-Neumann, Luitgard M.;
Neitzel, Heidemarie;
Page, Stephanie;
Ahmed, Alischo;
Müller, Ines;
Erdogan, Fikret;
Ropers, Hans-Hilger;
Kalscheuer, Vera M.;
Ullmann, Reinhard

Publication type:

Article

The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 348, doi. 10.1038/ejhg.2009.166

By:

Chiaroni, Jacques;
King, Roy J.;
Myres, Natalie M.;
Henn, Brenna M.;
Ducourneau, Axel;
Mitchell, Michael J.;
Boetsch, Gilles;
Sheikha, Issa;
Lin, Alice A.;
Nik-Ahd, Mahnoosh;
Ahmad, Jabeen;
Lattanzi, Francesca;
Herrera, Rene J.;
Ibrahim, Muntaser E.;
Brody, Aaron;
Semino, Ornella;
Kivisild, Toomas;
Underhill, Peter A.

Publication type:

Article

A powerful genome-wide feasible approach to detect parent-of-origin effects in studies of quantitative traits.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 379, doi. 10.1038/ejhg.2009.167

By:

Belonogova, Nadezhda M.;
Axenovich, Tatiana I.;
Aulchenko, Yurii S.

Publication type:

Article

Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 354, doi. 10.1038/ejhg.2009.168

By:

Eaaswarkhanth, Muthukrishnan;
Haque, Ikramul;
Ravesh, Zeinab;
Romero, Irene Gallego;
Meganathan, Poorlin Ramakodi;
Dubey, Bhawna;
Khan, Faizan Ahmed;
Chaubey, Gyaneshwer;
Kivisild, Toomas;
Tyler-Smith, Chris;
Singh, Lalji;
Thangaraj, Kumarasamy

Publication type:

Article

Functional consequences of mitochondrial tRNA<sup>Trp</sup> and tRNA<sup>Arg</sup> mutations causing combined OXPHOS defects.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 324, doi. 10.1038/ejhg.2009.169

By:

Smits, Paulien;
Mattijssen, Sandy;
Morava, Eva;
van den Brand, Mariël;
van den Brandt, Frans;
Wijburg, Frits;
Pruijn, Ger;
Smeitink, Jan;
Nijtmans, Leo;
Rodenburg, Richard;
van den Heuvel, Lambert

Publication type:

Article

Understanding sickle cell carrier status identified through newborn screening: a qualitative study.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 303, doi. 10.1038/ejhg.2009.173

By:

Miller, Fiona A.;
Paynter, Martha;
Hayeems, Robin Z.;
Little, Julian;
Carroll, June C.;
Wilson, Brenda J.;
Allanson, Judith;
Bytautas, Jessica P.;
Chakraborty, Pranesh

Publication type:

Article

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 278, doi. 10.1038/ejhg.2009.174

By:

Nagamani, Sandesh Chakravarthy Sreenath;
Erez, Ayelet;
Shen, Joseph;
Chumei Li;
Roeder, Elizabeth;
Cox, Sarah;
Karaviti, Lefkothea;
Pearson, Margret;
Kang, Sung-Hae L.;
Sahoo, Trilochan;
Lalani, Seema R.;
Stankiewicz, Pawel;
Sutton, V. Reid;
Sau Wai Cheung

Publication type:

Article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 330, doi. 10.1038/ejhg.2009.175

By:

Rujirabanjerd, Sinitdhorn;
Nelson, John;
Tarpey, Patrick S.;
Hackett, Anna;
Edkins, Sarah;
Raymond, F Lucy;
Schwartz, Charles E.;
Turner, Gillian;
Iwase, Shigeki;
Yang Shi;
Futreal, P. Andrew;
Stratton, Michael R.;
Gecz, Jozef

Publication type:

Article

Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 364, doi. 10.1038/ejhg.2009.176

By:

Garaulet, Marta;
Yu-Chi Lee;
Jian Shen;
Parnell, Laurence D.;
Arnett, Donna K.;
Tsai, Michael Y.;
Chao-Qiang Lai;
Ordovas, Jose M.

Publication type:

Article

Large-scale parent–child comparison confirms a strong paternal influence on telomere length.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 385, doi. 10.1038/ejhg.2009.178

By:

Nordfjäll, Katarina;
Svenson, Ulrika;
Norrback, Karl-Fredrik;
Adolfsson, Rolf;
Roos, Göran

Publication type:

Article

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 336, doi. 10.1038/ejhg.2009.179

By:

Plaitakis, Andreas;
Latsoudis, Helen;
Kanavouras, Konstantinos;
Ritz, Beate;
Bronstein, Jeff M.;
Skoula, Irene;
Mastorodemos, Vasileios;
Papapetropoulos, Spyridon;
Borompokas, Nikolas;
Zaganas, Ioannis;
Xiromerisiou, Georgia;
Hadjigeorgiou, George M.;
Spanaki, Cleanthe

Publication type:

Article

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 309, doi. 10.1038/ejhg.2009.180

By:

Bonnen, Penelope E.;
Lowe, Jennifer K.;
Altshuler, David M.;
Breslow, Jan L.;
Stoffel, Markus;
Friedman, Jeffrey M.;
Pe'er, Itsik

Publication type:

Article

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 317, doi. 10.1038/ejhg.2009.181

By:

Micale, Lucia;
Turturo, Maria Giuseppina;
Fusco, Carmela;
Augello, Bartolomeo;
Jurado, Luis A Pérez;
Izzi, Claudia;
Digilio, Maria Cristina;
Milani, Donatella;
Lapi, Elisabetta;
Zelante, Leopoldo;
Merla, Giuseppe

Publication type:

Article

Non-invasive prenatal testing: ethical issues explored.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 272, doi. 10.1038/ejhg.2009.203

By:

de Jong, Antina;
Dondorp, Wybo J.;
de Die-Smulders, Christine E. M.;
Frints, Suzanne G. M.;
de Wert, Guido M. W. R.

Publication type:

Article