Archive ouverte UNIGE

Français

	Title	Authors / Editors	Date
unige:84812	The mouse Hoxd13spdh mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes	Bruneau, Sylvia; Johnson, Kenneth R.; Yamamoto, Masakazu; Kuroiwa, Atsushi; Duboule, Denis	2001
unige:9872	The dose of a putative ubiquitin-specific protease affects position-effect variegation in Drosophila melanogaster	Henchoz, Sandra; De Rubertis, Francesco; Pauli, Daniel; Spierer, Pierre	1996
unige:43387	The DBP gene is expressed according to a circadian rhythm in the suprachiasmatic nucleus and influences circadian behavior	Lopez Molina, Luis; Conquet, F; Dubois-Dauphin, Michel; Schibler, Ulrich	1997
unige:10076	The CRF neurosecretory vesicle: vasopressin-dependent changes in vesicle size after adrenalectomy	Kiss, Jozsef Zoltan; Bertini, L. T.	1992
unige:8705	Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain	De Moerloose, Philippe; Germanos-Haddad, Myrna; Boehlen, Françoise; Neerman Arbez, Marguerite	2004
unige:36659	Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function	Marthinet, Eric; Bloc, Alain André Leon; Oka, Yoshimoto; Tanizawa, Yukio; ... Schwitzgebel Luscher, Valérie	2005
unige:88999	Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko	2016
unige:34648	Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus	Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos	2012
unige:8930	Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia	Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw	2000
unige:32312	Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia	Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite	2012
unige:95968	Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy	French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium	2016
unige:108546	Impact of CD14 Polymorphisms on Anti-Apolipoprotein A-1 IgG-Related Coronary Artery Disease Prediction in the General Population	Antiochos, Panagiotis; Marques-Vidal, Pedro; Virzi, Julien; Pagano, Sabrina; ... Vuilleumier, Nicolas	2017
unige:34656	Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?	Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand	2012
unige:8754	Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency	Germanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite	2005
unige:2096	HLA-Bw4 homozygosity is associated with an impaired CD4 T cell recovery after initiation of antiretroviral therapy	Rauch, Andri; Nolan, David; Furrer, Hansjakob; McKinnon, Elizabeth; ... James, Ian	2008
unige:29051	Haplotype-based banking of human pluripotent stem cells for transplantation: potential and limitations	Zimmermann, Anna; Preynat-Seauve, Olivier; Tiercy, Jean-Marie; Krause, Karl-Heinz; Villard, Jean	2012
unige:11523	Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319	Prella, M.; Baccala, R.; Horisberger, J. D.; Belin, Dominique; ... Schapira, Marc	2001
unige:20997	Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome	Harambat, Jerome; Fargue, Sonia; Acquaviva, Cecile; Gagnadoux, Marie-France; ... Cochat, Pierre	2010
unige:34640	Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity	Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Antonarakis, Stylianos	2013
unige:9146	Evolutionary comparison provides evidence for pathogenicity of RMRP mutations	Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre	2005

View all records: 95640

Back to top About Swiss Copyright

Validator | Admin