Works matching IS 03406717 AND DT 2010 AND VI 127 AND IP 5

Results: 15

Distinct breakpoints in two cases with deletion in the Yp11.2 region in Japanese population.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 537, doi. 10.1007/s00439-010-0794-7
By:
- Kumagai, Reiko;
- Sasaki, Yoshitoshi;
- Tokuta, Takuya;
- Biwasaka, Hitoshi;
- Matsusue, Aya;
- Aoki, Yasuhiro;
- Dewa, Koji
Publication type:
Article
Kalirin: a novel genetic risk factor for ischemic stroke.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 513, doi. 10.1007/s00439-010-0790-y
By:
- Krug, Tiago;
- Manso, Helena;
- Gouveia, Liliana;
- Sobral, João;
- Xavier, Joana M.;
- Albergaria, Isabel;
- Gaspar, Gisela;
- Correia, Manuel;
- Viana-Baptista, Miguel;
- Simões, Rita Moiron;
- Pinto, Amélia Nogueira;
- Taipa, Ricardo;
- Ferreira, Carla;
- Fontes, João Ramalho;
- Silva, Mário Rui;
- Gabriel, João Paulo;
- Matos, Ilda;
- Lopes, Gabriela;
- Ferro, José M.;
- Vicente, Astrid M.
Publication type:
Article
Population description and its role in the interpretation of genetic association.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 563, doi. 10.1007/s00439-010-0800-0
By:
- Fullerton, Stephanie M.;
- Joon-Ho Yu;
- Crouch, Julia;
- Fryer-Edwards, Kelly;
- Burke, Wylie
Publication type:
Article
Digging deeper into East African human Y chromosome lineages.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 603, doi. 10.1007/s00439-010-0808-5
By:
- Gomes, Verónica;
- Sánchez-Diz, Paula;
- Amorim, António;
- Carracedo, Ángel;
- Gusmão, Leonor
Publication type:
Article
Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 525, doi. 10.1007/s00439-010-0789-4
By:
- Zuvich, Rebecca L.;
- McCauley, Jacob L.;
- Oksenberg, Jorge R.;
- Sawcer, Stephen J.;
- De Jager, Philip L.;
- Aubin, Cristin;
- Cross, Anne H.;
- Piccio, Laura;
- Aggarwal, Neelum T.;
- Evans, Denis;
- Hafler, David A.;
- Compston, Alastair;
- Hauser, Stephen L.;
- Pericak-Vance, Margaret A.;
- Haines, Jonathan L.
Publication type:
Article
Novel mutations in the connexin43 ( GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 545, doi. 10.1007/s00439-010-0791-x
By:
- Hui-Mei Hong;
- Jiann-Jou Yang;
- Jia-Ching Shieh;
- Mei-Ling Li;
- Shuan-Yow Li
Publication type:
Article
Significant association of glutamate receptor, ionotropic N-methyl- d-aspartate 3A ( GRIN3A), with nicotine dependence in European- and African-American smokers.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 503, doi. 10.1007/s00439-010-0787-6
By:
- Ma, Jennie Z.;
- Payne, Thomas J.;
- Li, Ming D.
Publication type:
Article
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 573, doi. 10.1007/s00439-010-0801-z
By:
- Wei Qin;
- Kozlowski, Piotr;
- Taillon, Bruce E.;
- Bouffard, Pascal;
- Holmes, Alison J.;
- Janne, Pasi;
- Camposano, Susana;
- Thiele, Elizabeth;
- Franz, David;
- Kwiatkowski, David J.
Publication type:
Article
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 555, doi. 10.1007/s00439-010-0797-4
By:
- Hehr, Ute;
- Pineda-Alvarez, Daniel E.;
- Uyanik, Goekhan;
- Ping Hu;
- Zhou, Nan;
- Hehr, Andreas;
- Schell-Apacik, Chayim;
- Altus, Carola;
- Daumer-Haas, Cornelia;
- Meiner, Annechristin;
- Steuernagel, Peter;
- Roessler, Erich;
- Winkler, Juergen;
- Muenke, Maximilian
Publication type:
Article
Peter Harper: Myotonic dystrophy.
Published in:
2010
By:
- Jayawant, Sandeep
Publication type:
Book Review
Erratum to: Novel mutations in the connexin43 ( GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.
Published in:
2010
By:
- Hong, Hui-Mei;
- Yang, Jiann-Jou;
- Shieh, Jia-Ching;
- Lin, Mei-Ling;
- Li, Shuan-Yow
Publication type:
Correction Notice
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 583, doi. 10.1007/s00439-010-0804-9
By:
- Muller, Jean;
- Stoetzel, C.;
- Vincent, M. C.;
- Leitch, C. C.;
- Laurier, V.;
- Danse, J. M.;
- Hellé, S.;
- Marion, V.;
- Bennouna-Greene, V.;
- Vicaire, S.;
- Megarbane, A.;
- Kaplan, J.;
- Drouin-Garraud, V.;
- Hamdani, M.;
- Sigaudy, S.;
- Francannet, C.;
- Roume, J.;
- Bitoun, P.;
- Goldenberg, A.;
- Philip, N.
Publication type:
Article
Analysis of the indel at the ARMS2 3′UTR in age-related macular degeneration.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 595, doi. 10.1007/s00439-010-0805-8
By:
- Gaofeng Wang;
- Spencer, Kylee L.;
- Scott, William K.;
- Whitehead, Patrice;
- Court, Brenda L.;
- Ayala-Haedo, Juan;
- Ping Mayo;
- Schwartz, Stephen G.;
- Kovach, Jaclyn L.;
- Gallins, Paul;
- Polk, Monica;
- Agarwal, Anita;
- Postel, Eric A.;
- Haines, Jonathan L.;
- Pericak-Vance, Margaret A.
Publication type:
Article
Keith DiPetrillo (ed): “Cardiovascular Genomics: Methods and Protocols”. Springer Protocols—Methods in Molecular Biology.
Published in:
2010
By:
- Kumar, Dhavendra
Publication type:
Book Review
Selection and mutation in the “new” genetics: an emerging hypothesis.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 491, doi. 10.1007/s00439-010-0792-9
By:
- Gottlieb, Bruce;
- Beitel, Lenore K.;
- Alvarado, Carlos;
- Trifiro, Mark A.
Publication type:
Article