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Genomics

Title Body Taxonomy Tags Year
Accuracy of CNV Detection from GWAS Data

Zhang D, Qian Y, Akula N, Alliey-Rodriguez N, Tang J; Bipolar Genome Study, Gershon ES, Liu C.

Accuracy of CNV Detection from GWAS Data


PLoS One. 2011 Jan 13;6(1):e14511


Genomics qPCR, Genomics 2011
Deciphering Squamous Cell Carcinoma Using Multidimensional Genomic Approaches

Gibb EA, Enfield KS, Tsui IF, Chari R, Lam S, Alvarez CE, Lam WL.


Deciphering Squamous Cell Carcinoma Using Multidimensional Genomic Approaches.


J Skin Cancer. 2011;2011:541405.


Genomics Microarray, Gene expression, LOH, microRNA, Cancer Genomics, NGS, Methylation, Mass Spec 2011
Spontaneous abrogation of the G 2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia...

Ceccaldi R, Briot D, Larghero J, Vasquez N, Dubois d'Enghien C, Chamousset D, Noguera ME, Waisfisz Q, Hermine O, Pondarre C, Leblanc T, Gluckman E, Joenje H, Stoppa-Lyonnet D, Socié G, Soulier J.

Spontaneous abrogation of the G 2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.


J Clin Invest. 2011 Jan 4;121(1):184-94. doi: 10.1172/JCI43836.


Genomics 2011
Isolation and Characterization of a Population of Stem-like Progenitor Cells From an Atypical Meningioma

Rath P, Miller DC, Litofsky NS, Anthony DC, Feng Q, Franklin C, Pei L, Free A, Liu J, Ren M, Kirk MD, Shi H.

Isolation and Characterization of a Population of Stem-like Progenitor Cells From an Atypical Meningioma.


Exp Mol Pathol. 2011 Apr;90(2):179-88.


Genomics Microarray, Gene expression, Copy number, SNP, LOH, Cancer Genomics 2011
Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

Shaikh TH, Haldeman-Englert C, Geiger EA, Ponting CP, Webber C.

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.


Hum Mol Genet. 2011 Mar 1;20(5):880-93.


Genomics Microarray, Copy number, qPCR, Genomics 2011
Immunohistochemical expression and cluster analysis of mesenchymal and neural stem cell-associated proteins in pediatric soft...

Sadikovic B, Graham C, Ho M, Zielenska M, Somers GR.

Immunohistochemical expression and cluster analysis of mesenchymal and neural stem cell-associated proteins in pediatric soft tissue sarcomas.

Pediatr Dev Pathol. 2010 Dec 16


Genomics 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Am J Hum Genet. 2010 Dec 10;87(6):842-7


Genomics 2010
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency...

Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K.

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

J Clin Invest. 2010 Dec 1;120(12):4220-35. doi: 10.1172/JCI43653


Genomics 2010
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct....

Pérez B, Kosmider O, Cassinat B, Renneville A, Lachenaud J, Kaltenbach S, Bertrand Y, Baruchel A, Chomienne C, Fontenay M, Preudhomme C, Cavé H.

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

Br J Haematol. 2010 Dec;151(5):460-8. doi: 10.1111


Genomics 2010
Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells

Tang L, Bergevoet SM, Gilissen C, de Witte T, Jansen JH, van der Reijden BA, Raymakers RA
.

Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells

BMC Pharmacol. 2010 Sep 13;10:12


Genomics 2010

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