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Results 1 to 25 of 7797

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A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regionsDIAZ, Francisca; GARCIA, Sofia; PADGETT, Kyle R et al.Human molecular genetics (Print). 2012, Vol 21, Num 23, pp 5066-5077, issn 0964-6906, 12 p.Article

A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in JapaneseKIYOTANI, Kazuma; MUSHIRODA, Taisei; HIRATA, Koichi et al.Human molecular genetics (Print). 2012, Vol 21, Num 7, pp 1665-1672, issn 0964-6906, 8 p.Article

A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucomaOSMAN, Wael; LOW, Siew-Kee; TAKAHASHI, Atsushi et al.Human molecular genetics (Print). 2012, Vol 21, Num 12, pp 2836-2842, issn 0964-6906, 7 p.Article

A systematic characterization of genes underlying both complex and Mendelian diseasesWENFEI JIN; PENGFEI QIN; HAIYI LOU et al.Human molecular genetics (Print). 2012, Vol 21, Num 7, pp 1611-1624, issn 0964-6906, 14 p.Article

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse modelsYOKOI, Fumiaki; DANG, Mai T; TONG ZHOU et al.Human molecular genetics (Print). 2012, Vol 21, Num 4, pp 916-925, issn 0964-6906, 10 p.Article

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondriaMOROTZ, Gábor M; DE VOS, Kurt J; VAGNONI, Alessio et al.Human molecular genetics (Print). 2012, Vol 21, Num 9, pp 1979-1988, issn 0964-6906, 10 p.Article

An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with GIi3R function during limb pyre-patterningBRISON, Nathalie; DEBEER, Philippe; FANTINI, Sebastian et al.Human molecular genetics (Print). 2012, Vol 21, Num 11, pp 2464-2475, issn 0964-6906, 12 p.Article

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defectsFERNANDEZ ALANIS, Eugenio; PINOTTI, Mirko; DAL MAS, Andrea et al.Human molecular genetics (Print). 2012, Vol 21, Num 11, pp 2389-2398, issn 0964-6906, 10 p.Article

Androgen-regulated processing of the oncomir MiR-27a, which targets Prohibitin in prostate cancerFLETCHER, Claire E; DART, D. Alwyn; SITA-LUMSDEN, Ailsa et al.Human molecular genetics (Print). 2012, Vol 21, Num 14, pp 3112-3127, issn 0964-6906, 16 p.Article

BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcriptionGRIERSON, Patrick M; LILLARD, Kate; BEHBEHANI, Gregory K et al.Human molecular genetics (Print). 2012, Vol 21, Num 5, pp 1172-1183, issn 0964-6906, 12 p.Article

Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMIVIMALESWARAN, Karani S; TACHMAZIDOU, Loanna; JING HUA ZHAO et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4537-4542, issn 0964-6906, 6 p.Article

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanismsTHIEL, Frank; COHRS, Christian M; WURST, Wolfgang et al.Human molecular genetics (Print). 2012, Vol 21, Num 16, pp 3535-3545, issn 0964-6906, 11 p.Article

Cdk1, but not Cdk2, is the sole Cdk that is essential and sufficient to drive resumption of meiosis in mouse oocytesADHIKARI, Deepak; WENJING ZHENG; YAN SHEN et al.Human molecular genetics (Print). 2012, Vol 21, Num 11, pp 2476-2484, issn 0964-6906, 9 p.Article

Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in DrosophilaQURASHI, Abrar; HUIJIE LIU; RAY, Laurie et al.Human molecular genetics (Print). 2012, Vol 21, Num 9, pp 2068-2075, issn 0964-6906, 8 p.Article

Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat diseaseVAN EYK, Clare L; MCLEOD, Catherine J; O'KEEFE, Louise V et al.Human molecular genetics (Print). 2012, Vol 21, Num 3, pp 536-547, issn 0964-6906, 12 p.Article

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)WEBB, Tom R; PARFITT, David A; SCHWARZ, Nele et al.Human molecular genetics (Print). 2012, Vol 21, Num 16, pp 3647-3654, issn 0964-6906, 8 p.Article

Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndromeGODAVARTHI, Swetha K; DEY, Parthanarayan; MAHESHWARI, Megha et al.Human molecular genetics (Print). 2012, Vol 21, Num 8, pp 1824-1834, issn 0964-6906, 11 p.Article

Epistatic dissection of laminin―receptor interactions in dystrophic zebrafish muscleSZTAL, Tamar E; SONNTAG, Carmen; HALL, Thomas E et al.Human molecular genetics (Print). 2012, Vol 21, Num 21, pp 4718-4731, issn 0964-6906, 14 p.Article

Evidence for FHL 1 as a novel disease gene for isolated hypertrophic cardiomyopathyFRIEDRICH, Felix W; WILDING, Brendan R; LINKE, Wolfgang A et al.Human molecular genetics (Print). 2012, Vol 21, Num 14, pp 3237-3254, issn 0964-6906, 18 p.Article

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseasesCOPPOLA, Giovanni; CHINNATHAMBI, Subashchandrabose; LANE, Jessica R et al.Human molecular genetics (Print). 2012, Vol 21, Num 15, pp 3500-3512, issn 0964-6906, 13 p.Article

Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndromeDE SOUSA ANDRADE, Luciana Nogueira; NATHANSON, Jason L; YEO, Gene W et al.Human molecular genetics (Print). 2012, Vol 21, Num 17, pp 3825-3834, issn 0964-6906, 10 p.Article

GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancerYU WANG; XIN HE; NGEOW, Joanne et al.Human molecular genetics (Print). 2012, Vol 21, Num 3, pp 569-576, issn 0964-6906, 8 p.Article

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingTIMAL, Sharita; HOISCHEN, Alexander; GILISSEN, Christian et al.Human molecular genetics (Print). 2012, Vol 21, Num 19, pp 4151-4161, issn 0964-6906, 11 p.Article

Gene-gene interactions in breast cancer susceptibilityTURNBULL, Clare; SEAL, Sheila; BERG, Jonathan et al.Human molecular genetics (Print). 2012, Vol 21, Num 4, pp 958-962, issn 0964-6906, 5 p.Article

Genetic―epigenetic interaction modulates μ-opioid receptor regulationOERTEL, Bruno G; DOEHRING, Alexandra; ROSKAM, Bianca et al.Human molecular genetics (Print). 2012, Vol 21, Num 21, pp 4751-4760, issn 0964-6906, 10 p.Article

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