Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 4

Results: 24

Septo-optic dysplasia.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 393, doi. 10.1038/ejhg.2009.125
By:
- Webb, Emma A.;
- Dattani, Mehul T.
Publication type:
Article
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 442, doi. 10.1038/ejhg.2009.161
By:
- Hannan, Fadil M.;
- Nesbit, M. Andrew;
- Turner, Jeremy J. O.;
- Stacey, Joanna M.;
- Cianferotti, Luisella;
- Christie, Paul T.;
- Conigrave, Arthur D.;
- Whyte, Michael P.;
- Thakker, Rajesh V.
Publication type:
Article
Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 463, doi. 10.1038/ejhg.2009.172
By:
- Pichler, Irene;
- Fuchsberger, Christian;
- Platzer, Christa;
- Çalişkan, Minal;
- Marroni, Fabio;
- Pramstaller, Peter P.;
- Ober, Carole
Publication type:
Article
Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 490, doi. 10.1038/ejhg.2009.182
By:
- May, Linda;
- van Bodegom, David;
- Frölich, Marijke;
- van Lieshout, Lisette;
- Slagboom, P. Eline;
- Westendorp, Rudi G. J.;
- Kuningas, Maris
Publication type:
Article
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 448, doi. 10.1038/ejhg.2009.183
By:
- Masny, Peter S.;
- Chan, On Ying A.;
- de Greef, Jessica C.;
- Bengtsson, Ulla;
- Ehrlich, Melanie;
- Tawil, Rabi;
- Lock, Leslie F.;
- Hewitt, Jane E.;
- Stocksdale, Jennifer;
- Martin, Jorge H.;
- van der Maarel, Silvere M.;
- Winokur, Sara T.
Publication type:
Article
Genomic landscape of positive natural selection in Northern European populations.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 471, doi. 10.1038/ejhg.2009.184
By:
- Lappalainen, Tuuli;
- Salmela, Elina;
- Andersen, Peter M.;
- Dahlman-Wright, Karin;
- Sistonen, Pertti;
- Savontaus, Marja-Liisa;
- Schreiber, Stefan;
- Lahermo, Päivi;
- Kere, Juha
Publication type:
Article
Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 496, doi. 10.1038/ejhg.2009.185
By:
- Sobrin, Lucia;
- Maller, Julian B.;
- Neale, Benjamin M.;
- Reynolds, Robyn C.;
- Fagerness, Jesen A.;
- Daly, Mark J.;
- Seddon, Johanna M.
Publication type:
Article
Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 421, doi. 10.1038/ejhg.2009.186
By:
- Weterman, Marian A. J.;
- van Ruissen, Fred;
- de Wissel, Marit;
- Bordewijk, Lou;
- Samijn, Johnny P. A.;
- van der Pol, W. Ludo;
- Meggouh, Farid;
- Baas, Frank
Publication type:
Article
Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment.
Published in:
2010
By:
- Fernández-Fernández, Francisco José
Publication type:
Letter
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 407, doi. 10.1038/ejhg.2009.190
By:
- Shahin, Hashem;
- Walsh, Tom;
- Rayyan, Amal Abu;
- Lee, Ming K.;
- Higgins, Jake;
- Dickel, Diane;
- Lewis, Kristen;
- Thompson, James;
- Baker, Carl;
- Nord, Alex S.;
- Stray, Sunday;
- Gurwitz, David;
- Avraham, Karen B.;
- King, Mary-Claire;
- Kanaan, Moien
Publication type:
Article
Ethical implications of the use of whole genome methods in medical research.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 398, doi. 10.1038/ejhg.2009.191
By:
- Kaye, Jane;
- Boddington, Paula;
- de Vries, Jantina;
- Hawkins, Naomi;
- Melham, Karen
Publication type:
Article
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192
By:
- Willemsen, Marjolein H.;
- Fernandez, Bridget A.;
- Bacino, Carlos A.;
- Gerkes, Erica;
- de Brouwer, Arjan P. M.;
- Pfundt, Rolph;
- Sikkema-Raddatz, Birgit;
- Scherer, Stephen W.;
- Marshall, Christian R.;
- Potocki, Lorraine;
- van Bokhoven, Hans;
- Kleefstra, Tjitske
Publication type:
Article
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 414, doi. 10.1038/ejhg.2009.193
By:
- Wouters, Vinciane;
- Limaye, Nisha;
- Uebelhoer, Melanie;
- Irrthum, Alexandre;
- Boon, Laurence M;
- Mulliken, John B;
- Enjolras, Odile;
- Baselga, Eulalia;
- Berg, Jonathan;
- Dompmartin, Anne;
- Ivarsson, Sten A.;
- Kangesu, Loshan;
- Lacassie, Yves;
- Murphy, Jill;
- Teebi, Ahmad S.;
- Penington, Anthony;
- Rieu, Paul;
- Vikkula, Miikka
Publication type:
Article
Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 479, doi. 10.1038/ejhg.2009.194
By:
- Underhill, Peter A.;
- Myres, Natalie M.;
- Rootsi, Siiri;
- Metspalu, Mait;
- Zhivotovsky, Lev A.;
- King, Roy J.;
- Lin, Alice A.;
- Chow, Cheryl-Emiliane T.;
- Semino, Ornella;
- Battaglia, Vincenza;
- Kutuev, Ildus;
- Järve, Mari;
- Chaubey, Gyaneshwer;
- Ayub, Qasim;
- Mohyuddin, Aisha;
- Mehdi, S. Qasim;
- Sengupta, Sanghamitra;
- Rogaev, Evgeny I.;
- Khusnutdinova, Elza K.;
- Pshenichnov, Andrey
Publication type:
Article
A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 502, doi. 10.1038/ejhg.2009.195
By:
- Mero, Inger-Lise;
- Lorentzen, Åslaug R.;
- Ban, Maria;
- Smestad, Cathrine;
- Celius, Elisabeth G.;
- Aarseth, Jan H.;
- Myhr, Kjell-Morten;
- Link, Jenny;
- Hillert, Jan;
- Olsson, Tomas;
- Kockum, Ingrid;
- Masterman, Thomas;
- Oturai, Annette Bang;
- Søndergaard, Helle Bach;
- Sellebjerg, Finn;
- Saarela, Janna;
- Kemppinen, Anu;
- Elovaara, Irina;
- Spurkland, Anne;
- Dudbridge, Frank
Publication type:
Article
High-throughput sequencing of microdissected chromosomal regions.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 457, doi. 10.1038/ejhg.2009.196
By:
- Weise, Anja;
- Timmermann, Bernd;
- Grabherr, Manfred;
- Werber, Martin;
- Heyn, Patricia;
- Kosyakova, Nadezda;
- Liehr, Thomas;
- Neitzel, Heidemarie;
- Konrat, Kateryna;
- Bommer, Christiane;
- Dietrich, Carola;
- Rajab, Anna;
- Reinhardt, Richard;
- Mundlos, Stefan;
- Lindner, Tom H.;
- Hoffmann, Katrin
Publication type:
Article
Reply to Fernández-Fernández.
Published in:
2010
By:
- Shovlin, Claire L.;
- Govani, Fatima S.
Publication type:
Letter
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 505, doi. 10.1038/ejhg.2009.198
By:
- Burlet, Philippe;
- Gigarel, Nadine;
- Magen, Maryse;
- Drunat, Séverine;
- Benachi, Alexandra;
- Hesters, Laetitia;
- Munnich, Arnold;
- Bonnefont, Jean-Paul;
- Steffann, Julie
Publication type:
Article
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 436, doi. 10.1038/ejhg.2009.199
By:
- Williams, Stephen R.;
- Mullegama, Sureni V.;
- Rosenfeld, Jill A.;
- Dagli, Aditi I.;
- Hatchwell, Eli;
- Allen, William P.;
- Williams, Charles A.;
- Elsea, Sarah H.
Publication type:
Article
Hereditary haemorrhagic telangiectasia and genetic thrombophilia.
Published in:
2010
By:
- Bianca, S.;
- Cutuli, N.;
- Bianca, M.;
- Barrano, B.;
- Cataliotti, A.;
- Barone, C.;
- Indaco, L.;
- Milana, G.
Publication type:
Letter
Reply to Bianca et al.
Published in:
2010
By:
- Shovlin, Claire L.;
- Govani, Fatima S.
Publication type:
Letter
Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.
Published in:
2010
By:
- Pichler, Irene;
- Fuchsberger, Christian;
- Platzer, Christa;
- Çalişkan, Minal;
- Marroni, Fabio;
- Pramstaller, Peter P.;
- Ober, Carole
Publication type:
Correction Notice
Evaluation of the discriminative accuracy of genomic profiling in the prediction of common complex diseases.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 485, doi. 10.1038/ejhg.2009.209
By:
- Moonesinghe, Ramal;
- Liu, Tiebin;
- Khoury, Muin J.
Publication type:
Article
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
Published in:
2010
By:
- Titze, Sabrina;
- Peters, Hartmut;
- Währisch, Sandra;
- Harder, Thomas;
- Guse, Katrin;
- Buske, Annegret;
- Tinschert, Sigrid;
- Harder, Anja
Publication type:
Correction Notice