Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 12

Results: 11

Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 2030, doi. 10.1093/hmg/ddl127

By:

Williamson, Kathleen A.;
Hever, Ann M.;
Rainger, Joe;
Rogers, R. Curtis;
Magee, Alex;
Fiedler, Zdenek;
Keng, Wee Teik;
Sharkey, Freddie H.;
McGill, Niolette;
Hill, Clare J.;
Schneider, Adele;
Messina, Mario;
Turnpenny, Peter D.;
Fantes, Judy A.;
van Heyningen, Veronica;
FitzPatrick, David R.

Publication type:

Article

Normal variants of Microcephalin and ASPM do not account for brain size variability.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 2025, doi. 10.1093/hmg/ddl126

By:

Woods, Roger P.;
Freimer, Nelson B.;
De Young, Joseph A.;
Fears, Scott C.;
Sicotte, Nancy L.;
Service, Susan K.;
Valentino, Daniel J.;
Toga, Arthur W.;
Mazziotta, John C.

Publication type:

Article

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 2015, doi. 10.1093/hmg/ddl125

By:

Lloret, Alejandro;
Dragileva, Ella;
Teed, Allison;
Espinola, Janice;
Fossale, Elisa;
Gillis, Tammy;
Lopez, Edith;
Myers, Richard H.;
MacDonald, Marcy E.;
Wheeler, Vanessa C.

Publication type:

Article

Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 2003, doi. 10.1093/hmg/ddl124

By:

Peddada, Sailaja;
Yasui, Dag H.;
LaSalle, Janine M.

Publication type:

Article

Meta-analysis shows strong positive association of the neuregulin 1 (NRG1) gene with schizophrenia.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 1995, doi. 10.1093/hmg/ddl122

By:

Li, Dawei;
Collier, David A.;
He, Lin

Publication type:

Article

Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 1984, doi. 10.1093/hmg/ddl121

By:

Spencer, Corinne M.;
Serysheva, Ekaterina;
Yuva-Paylor, Lisa A.;
Oostra, Ben A.;
Nelson, David L.;
Paylor, Richard

Publication type:

Article

Nance–Horan syndrome protein, NHS, associates with epithelial cell junctions.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 1972, doi. 10.1093/hmg/ddl120

By:

Sharma, Shiwani;
Ang, Sharyn L.;
Shaw, Marie;
Mackey, David A.;
Gécz, Jozef;
McAvoy, John W.;
Craig, Jamie E.

Publication type:

Article

Atm-deficient mice: an osteoporosis model with defective osteoblast differentiation and increased osteoclastogenesis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 1938, doi. 10.1093/hmg/ddl116

By:

Rasheed, Naslin;
Wang, Xueying;
Niu, Qing-Tian;
Yeh, James;
Li, Baojie

Publication type:

Article

Direct detection of null alleles in SNP genotyping data.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 1931, doi. 10.1093/hmg/ddl115

By:

Carlson, Christopher S.;
Smith, Joshua D.;
Stanaway, Ian B.;
Rieder, Mark J.;
Nickerson, Deborah A.

Publication type:

Article

Caspase 9 promoter polymorphisms and risk of primary lung cancer.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 1963, doi. 10.1093/hmg/ddl119

By:

Park, Jae Yong;
Park, Jung Min;
Jang, Jin Sung;
Choi, Jin Eun;
Kim, Kyung Mee;
Cha, Sung Ick;
Kim, Chang Ho;
Kang, Young Mo;
Lee, Won Kee;
Kam, Sin;
Park, Rang Woon;
Kim, In San;
Lee, Jae-Tae;
Jung, Tae Hoon

Publication type:

Article

Genome-wide expression analysis detects eight genes with robust alterations specific to bipolar I disorder: relevance to neuronal network perturbation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 12, p. 1949, doi. 10.1093/hmg/ddl118

By:

Nakatani, Noriaki;
Hattori, Eiji;
Ohnishi, Tetsuo;
Dean, Brian;
Iwayama, Yoshimi;
Matsumoto, Izuru;
Kato, Tadafumi;
Osumi, Noriko;
Higuchi, Teruhiko;
Niwa, Shin-Ichi;
Yoshikawa, Takeo

Publication type:

Article