Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 3

Results: 25

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 293, doi. 10.1038/ejhg.2010.210
By:
- Doucette, Lance;
- Green, Jane;
- Fernandez, Bridget;
- Johnson, Gordon J.;
- Parfrey, Patrick;
- Young, Terry-Lynn
Publication type:
Article
Clinical utility gene card for: Retinoblastoma.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.200
By:
- Lohmann, Dietmar;
- Gallie, Brenda;
- Dommering, Charlotte;
- Gauthier-Villars, Marion
Publication type:
Article
Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 313, doi. 10.1038/ejhg.2010.209
By:
- Dostalova Merkerova, Michaela;
- Krejcik, Zdenek;
- Votavova, Hana;
- Belickova, Monika;
- Vasikova, Alzbeta;
- Cermak, Jaroslav
Publication type:
Article
An atypical case of hypomethylation at multiple imprinted loci.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 360, doi. 10.1038/ejhg.2010.218
By:
- Baple, Emma L.;
- Poole, Rebecca L.;
- Mansour, Sahar;
- Willoughby, Catherine;
- Temple, I. Karen;
- Docherty, Louise E.;
- Taylor, Rohan;
- Mackay, Deborah J. G.
Publication type:
Article
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 253, doi. 10.1038/ejhg.2010.219
By:
- Schlotawa, Lars;
- Ennemann, Eva Charlotte;
- Radhakrishnan, Karthikeyan;
- Schmidt, Bernhard;
- Chakrapani, Anupam;
- Christen, Hans-Jürgen;
- Moser, Hugo;
- Steinmann, Beat;
- Dierks, Thomas;
- Gärtner, Jutta
Publication type:
Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
By:
- Nagamani, Sandesh C. Sreenath;
- Erez, Ayelet;
- Bader, Patricia;
- Lalani, Seema R.;
- Scott, Daryl A.;
- Scaglia, Fernando;
- Plon, Sharon E.;
- Chun-Hui Tsai;
- Reimschisel, Tyler;
- Roeder, Elizabeth;
- Malphrus, Amy D.;
- Eng, Patricia A.;
- Hixson, Patricia M.;
- Kang, Sung-Hae L.;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Sau Wai Cheung
Publication type:
Article
Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 320, doi. 10.1038/ejhg.2010.216
By:
- Yoshida, Rintaro;
- Miyashita, Kaname;
- Inoue, Mayuko;
- Shimamoto, Akiyoshi;
- Zhao Yan;
- Egashira, Akinori;
- Oki, Eiji;
- Kakeji, Yoshishiro;
- Oda, Shinya;
- Maehara, Yoshihiko
Publication type:
Article
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 270, doi. 10.1038/ejhg.2010.204
By:
- Hoefs, Saskia J. G.;
- van Spronsen, Francjan J.;
- Lenssen, Ellen W. H.;
- Nijtmans, Leo G.;
- Rodenburg, Richard J.;
- Smeitink, Jan A. M.;
- van den Heuvel, Lambert P.
Publication type:
Article
Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 334, doi. 10.1038/ejhg.2010.177
By:
- Haber, Marc;
- Platt, Daniel E.;
- Badro, Danielle A.;
- Yali Xue;
- El-Sibai, Mirvat;
- Bonab, Maziar Ashrafian;
- Youhanna, Sonia C.;
- Saade, Stephanie;
- Soria-Hernanz, David F.;
- Royyuru, Ajay;
- Wells, R. Spencer;
- Tyler-Smith, Chris;
- Zalloua, Pierre A.
Publication type:
Article
A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 347, doi. 10.1038/ejhg.2010.179
By:
- Huyghe, Jeroen R.;
- Fransen, Erik;
- Hannula, Samuli;
- Van Laer, Lut;
- Van Eyken, Els;
- Mäki-Torkko, Elina;
- Aikio, Pekka;
- Sorri, Martti;
- Huentelman, Matthew J.;
- Camp, Guy Van
Publication type:
Article
Clinical utility gene card for: Laing distal myopathy.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.190
By:
- Lamont, Phillipa;
- Wallefeld, William;
- Davis, Mark;
- Udd, Bjarne;
- Laing, Nigel
Publication type:
Article
Relation of a common variant of the adiponectin gene to serum adiponectin concentration and metabolic traits in an aged Japanese population.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 262, doi. 10.1038/ejhg.2010.201
By:
- Tanimura, Daisuke;
- Shibata, Rei;
- Izawa, Hideo;
- Hirashiki, Akihiro;
- Asano, Hiroyuki;
- Murase, Yosuke;
- Miyata, Seiko;
- Nakatochi, Masahiro;
- Ouchi, Noriyuki;
- Ichihara, Sahoko;
- Yasui, Kenji;
- Yoshida, Tsutomu;
- Naruse, Keiko;
- Matsubara, Tatsuaki;
- Yokota, Mitsuhiro
Publication type:
Article
The clinical spectrum of complete FBN1 allele deletions.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
By:
- Hilhorst-Hofstee, Yvonne;
- Hamel, Ben C. J.;
- Verheij, Joke B. G. M.;
- Rijlaarsdam, Marry E. B.;
- Mancini, Grazia M. S.;
- Cobben, Jan M.;
- Giroth, Cindy;
- Ruivenkamp, Claudia A. L.;
- Hansson, Kerstin B. M.;
- Timmermans, Janneke;
- Moll, Henriette A.;
- Breuning, Martijn H.;
- Pals, Gerard
Publication type:
Article
Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 341, doi. 10.1038/ejhg.2010.178
By:
- Karns, Rebekah;
- Ge Zhang;
- Jeran, Nina;
- Havas-Augustin, Dubravka;
- Missoni, Sasa;
- Wen Niu;
- Indugula, Subba Rao;
- Guangyun Sun;
- Durakovic, Zijad;
- Narancic, Nina Smolej;
- Rudan, Pavao;
- Chakraborty, Ranajit;
- Deka, Ranjan
Publication type:
Article
Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 307, doi. 10.1038/ejhg.2010.187
By:
- van Roon, Eddy H. J.;
- de Miranda, Noël F. C. C.;
- van Nieuwenhuizen, Merlijn P.;
- de Meijer, Emile J.;
- van Puijenbroek, Marjo;
- Yan, Pearlly S.;
- Huang, Tim H.-M.;
- van Wezel, Tom;
- Morreau, Hans;
- Boer, Judith M.
Publication type:
Article
A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 363, doi. 10.1038/ejhg.2010.182
By:
- Golledge, Jonathan;
- Biros, Erik;
- Warrington, Nicole;
- Jones, Gregory T.;
- Cooper, Matthew;
- van Rij, Andre M.;
- Palmer, Lyle J.;
- Norman, Paul E.
Publication type:
Article
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 326, doi. 10.1038/ejhg.2010.181
By:
- Azmanov, Dimitar N.;
- Dimitrova, Stanislava;
- Florez, Laura;
- Cherninkova, Sylvia;
- Draganov, Dragomir;
- Morar, Bharti;
- Saat, Rosmawati;
- Juan, Manel;
- Arostegui, Juan I.;
- Ganguly, Sriparna;
- Soodyall, Himla;
- Chakrabarti, Subhabrata;
- Padh, Harish;
- López-Nevot, Miguel A;
- Chernodrinska, Violeta;
- Anguelov, Botio;
- Majumder, Partha;
- Angelova, Lyudmila;
- Kaneva, Radka;
- Mackey, David A.
Publication type:
Article
Clinical utility gene card for: Silver-Russell syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.202
By:
- Eggermann, Thomas;
- Buiting, Karin;
- Temple, I. Karen
Publication type:
Article
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 287, doi. 10.1038/ejhg.2010.213
By:
- Leshinsky-Silver, Esther;
- Malinger, Gustavo;
- Ben-Sira, Liat;
- Kidron, Dvora;
- Cohen, Sarit;
- Inbar, Shani;
- Bezaleli, Tali;
- Levine, Arie;
- Vinkler, Chana;
- Lev, Dorit;
- Lerman-Sagie, Tally
Publication type:
Article
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 275, doi. 10.1038/ejhg.2010.208
By:
- Smits, Paulien;
- Antonicka, Hana;
- van Hasselt, Peter M.;
- Weraarpachai, Woranontee;
- Haller, Wolfram;
- Schreurs, Marieke;
- Venselaar, Hanka;
- Rodenburg, Richard J.;
- Smeitink, Jan A.;
- van den Heuvel, Lambert P.
Publication type:
Article
Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 353, doi. 10.1038/ejhg.2010.180
By:
- Napolioni, Valerio;
- Lombardi, Federica;
- Sacco, Roberto;
- Curatolo, Paolo;
- Manzi, Barbara;
- Alessandrelli, Riccardo;
- Militerni, Roberto;
- Bravaccio, Carmela;
- Lenti, Carlo;
- Saccani, Monica;
- Schneider, Cindy;
- Melmed, Raun;
- Pascucci, Tiziana;
- Puglisi-Allegra, Stefano;
- Reichelt, Karl-Ludvig;
- Rousseau, Francis;
- Lewin, Patricia;
- Persico, Antonio M.
Publication type:
Article
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 300, doi. 10.1038/ejhg.2010.203
By:
- Hamel, Nancy;
- Feng, Bing-Jian;
- Foretova, Lenka;
- Stoppa-Lyonnet, Dominique;
- Narod, Steven A;
- Imyanitov, Evgeny;
- Sinilnikova, Olga;
- Tihomirova, Laima;
- Lubinski, Jan;
- Gronwald, Jacek;
- Gorski, Bohdan;
- Hansen, Thomas v O;
- Nielsen, Finn C;
- Thomassen, Mads;
- Yannoukakos, Drakoulis;
- Konstantopoulou, Irene;
- Zajac, Vladimir;
- Ciernikova, Sona;
- Couch, Fergus J;
- Greenwood, Celia M T
Publication type:
Article
Clinical utility gene card for: Axenfeld-Rieger syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.163
By:
- Weisschuh, Nicole;
- De Baere, Elfride;
- Wissinger, Bernd;
- Tümer, Zeynep
Publication type:
Article
Clinical utility gene card for: hypophosphatasia.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.170
By:
- Mornet, Etienne;
- Beck, Christine;
- Bloch-Zupan, Agnès;
- Girschick, Hermann;
- Le Merrer, Martine
Publication type:
Article
Clinical utility gene card for: Bardet-Biedl syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.199
By:
- Slavotinek, Anne;
- Beales, Philip
Publication type:
Article