| | Title | Authors / Editors | Date |
|
unige:9001 |
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients |
Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos |
1998 |
|
unige:1055 |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |
Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
|
unige:45219 |
A map of human genome variation from population-scale sequencing |
1000 Genomes Project Consortium |
2010 |
|
unige:19928 |
A multidisciplinary study of patients with early-onset PD with and without parkin mutations |
Lohmann, E.; Thobois, S.; Lesage, S.; Broussolle, E.; ... Brice, A. |
2009 |
|
unige:11373 |
A novel class of secA alleles that exert a signal-sequence-dependent effect on protein export in Escherichia coli |
Khatib, Karim; Belin, Dominique |
2002 |
|
unige:8999 |
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream |
Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite |
2009 |
|
unige:45179 |
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms |
Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; ... Brice, Alexis |
2009 |
|
unige:9076 |
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency |
Villard, Jean; Reith, Walter; Barras, Emmanuele; Gos, A.; ... Mach, Bernard |
1997 |
|
unige:8964 |
APECED: a monogenic autoimmune disease providing new clues to self-tolerance |
Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. |
1998 |
|
unige:89001 |
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication |
Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich |
2016 |
|
unige:19175 |
Are parkin patients particularly suited for deep-brain stimulation? |
Lohmann, Ebba; Welter, Marie-Laure; Fraix, Valerie; Krack, Paul; ... Brice, Alexis |
2008 |
|
unige:8725 |
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome |
Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis |
2003 |
|
unige:73117 |
ATM alterations in childhood non-Hodgkin lymphoma |
Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal |
2006 |
|
unige:47588 |
ATM gene alterations in childhood acute lymphoblastic leukemias |
Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David; Sappino, Pascal |
2003 |
|
unige:8625 |
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia |
Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos |
2001 |
|
unige:1797 |
Candidate gene analysis in three families with acilia syndrome |
Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. |
2008 |
|
unige:2538 |
Candidate genes for temporal lobe epilepsy: a replication study |
Trachsler-Salzmann, Annick; Perroud, Nader; Crespel, Arielle; Lambercy, Carmen; Malafosse, Alain |
2008 |
|
unige:9030 |
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis |
Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos |
1998 |
|
unige:74108 |
Characterization of Streptococcus tigurinus small-colony variants causing prosthetic joint infection by comparative whole-genome analyses |
Zbinden, Andrea; Quiblier, Chantal; Hernandez, David; Herzog, Kathrin; ... Francois, Patrice |
2014 |
|
unige:8627 |
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency |
Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos |
2000 |
|
unige:138550 |
Complementation Studies with Rous Sarcoma Virus gag and gag-pol Polyprotein Mutants |
Oertle, Suzanne; Bowles, Neil Edward; Spahr, Pierre-François |
1992 |
|
unige:8822 |
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation |
Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M. |
1996 |
|
unige:74126 |
Contribution of teg49 small RNA in the 5' upstream transcriptional region of sarA to virulence in Staphylococcus aureus |
Kim, Samin; Reyes, Dindo; Beaume, Marie-Emilie; Francois, Patrice; Cheung, Ambrose L. |
2014 |
|
unige:25779 |
Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011 |
Mornand, Anne; Barben, Jürg; Hafen, Gaudenz |
2011 |
|
unige:9166 |
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening |
D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride |
2009 |
|
unige:8814 |
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects |
Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut |
2006 |
|
unige:1068 |
DNAI1 mutations explain only 2% of primary ciliary dykinesia |
Failly, Mike; Saitta, Alexandra; Munoz, Analia; Falconnet, Emilie; ... Blouin, Jean-Louis |
2008 |
|
unige:8920 |
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis |
Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala |
2006 |
|
unige:114072 |
Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter |
Boccardi, Marina; Scassellati, Catia; Ghidoni, Roberta; Testa, Cristina; ... Frisoni, Giovanni |
2008 |
|
unige:45192 |
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? |
Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis |
2012 |
|
unige:8932 |
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells |
Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe |
2004 |
|
unige:9061 |
Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function |
Undas, Anetta; Zdziarska, Joanna; Iwaniec, Teresa; Stepien, Ewa; ... Neerman Arbez, Marguerite |
2009 |
|
unige:8745 |
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients |
Fokstuen, Siv; Antonarakis, Stylianos; Blouin, Jean-Louis |
2003 |
|
unige:20579 |
Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze) |
Undas, Anetta; Pastuszczak, Maciej; Iwaniec, Teresa; Kapelak, Krystyna; Neerman Arbez, Marguerite |
2010 |
|
unige:8883 |
Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome |
Marneros, A. G.; Mehenni, H.; Reichenberger, E.; Antonarakis, Stylianos; ... Olsen, B. R. |
2001 |
|
unige:74254 |
Genotype-phenotype correlations in attenuated adenomatous polyposis coli |
Soravia, Claudio; Berk, T; Madlensky, L; Mitri, A; ... Bapat, B |
1998 |
|
unige:20665 |
Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' |
Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman Arbez, Marguerite |
2010 |
|
unige:56147 |
Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation |
Von Planta, Maya; Humbert, James Ronald; Wacker, Pierre; Rimensberger, Peter; ... Beris, Photis |
2001 |
|
unige:32314 |
Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency |
Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe |
2012 |
|
unige:8844 |
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) |
Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos |
1997 |
|
unige:45205 |
Identification of VPS35 mutations replicated in French families with Parkinson disease |
Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A |
2012 |
|
unige:19620 |
Impaired E-cadherin expression and glutamine synthetase overexpression in solid pseudopapillary neoplasm of the pancreas |
Audard, Virginie; Cavard, Catherine; Richa, Hubert; Genevay-Infante, Muriel; ... Flejou, Jean-Francois |
2008 |
|
unige:8900 |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis |
Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele |
2002 |
|
unige:107719 |
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections |
Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Fluss, Joel Victor; ... Mogensen, Trine H |
2017 |
|
unige:8901 |
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects |
Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis |
2010 |
|
unige:9029 |
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness |
Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:93194 |
Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings |
Frisch, Inez B; Haag, Peter; Steffen, Heimo; Weber, Bernhard H F; Holz, Frank G |
2002 |
|
unige:8758 |
Language skills in children with velocardiofacial syndrome (deletion 22q11.2) |
Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan |
2002 |
|
unige:21243 |
Marked hemiatrophy in carriers of Duchenne muscular dystrophy |
Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. |
2010 |
|
unige:104578 |
Mechanism of retinoblastoma gene inactivation in the spectrum of neuroendocrine lung tumors |
Gouyer, V; Gazzéri, S; Bolon, Isabelle; Drevet, C; ... Brambilla, E |
1998 |
Dna mutational analysis
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