| | Title | Authors / Editors | Date |
|
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:8706 |
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 |
de Mollerat, X. J.; Gurrieri, Fiorella; Morgan, C. T.; Sangiorgi, Eugenio; ... Schwartz, C. E. |
2003 |
|
unige:9022 |
A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years |
Savioz, Armand; Blouin, Jean-Louis; Guidi, S.; Antonarakis, Stylianos; Bouras, Constantin |
1997 |
|
unige:8701 |
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q |
Dauvilliers, Yves; Blouin, Jean-Louis; Neidhart, Elisabeth; Carlander, Bertrand; ... Tafti, Mehdi |
2004 |
|
unige:8645 |
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination |
Blouin, Jean-Louis; Christie, D. H.; Gos, A.; Lynn, A.; ... Antonarakis, Stylianos |
1995 |
|
unige:8981 |
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree |
Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:8978 |
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 |
Radhakrishna, U.; Blouin, Jean-Louis; Solanki, J. V.; Dhoriani, G. M.; Antonarakis, Stylianos |
1996 |
|
unige:8851 |
Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor |
Landau, Ruth; Morales, M. A.; Antonarakis, Stylianos; Blouin, Jean-Louis; Smiley, R. M. |
2005 |
|
unige:8624 |
Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping |
Bartoloni, Lucia; Blouin, Jean-Louis; Sainsbury, A. J.; Gos, A.; ... Antonarakis, Stylianos |
1999 |
|
unige:44539 |
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report |
Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict |
2007 |
|
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:159455 |
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis |
Marconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv |
2021 |
|
unige:9144 |
Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically |
Blouin, Jean-Louis; Binkert, F.; Antonarakis, Stylianos |
1994 |
|
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:9043 |
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci |
Stratakis, C. A.; Kirschner, L. S.; Taymans, S. E.; Tomlinson, I. P.; ... Carney, J. A. |
1998 |
|
unige:8678 |
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 |
Chen, H.; Morris, Michael Andréw; Rossier, Colette; Blouin, Jean-Louis; Antonarakis, Stylianos |
1995 |
|
unige:108165 |
Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes |
Klee, Philippe; Dirlewanger, Mijam; Lavallard, Vanessa; Mclin, Valérie Anne; ... Schwitzgebel Luscher, Valérie |
2018 |
|
unige:108120 |
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder |
Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv |
2018 |
|
unige:8852 |
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 |
Lapenta, V.; Sossi, V.; Gosset, P.; Vayssettes, C.; ... Brahe, C. |
1998 |
|
unige:76219 |
Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy |
von Laer Tschudin, Letizia; Schwitzgebel Luscher, Valérie; von Scheven-Gête, Annette; Blouin, Jean-Louis; ... Phan-Hug, Franziska |
2015 |
Blouin, Jean-Louis
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