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Journal of the American Academy of Dermatology, ISSN 0190-9622, 2014, Volume 71, Issue 5, pp. 888 - 895
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2016, Volume 18, Issue 7, pp. 727 - 736
Journal Article
by Bertolotto, Corine and Lesueur, Fabienne and Giuliano, Sandy and Strub, Thomas and De Lichy, Mahaut and Bille, Karine and Dessen, Philippe and D'Hayer, Benoit and Mohamdi, Hamida and Remenieras, Audrey and Maubec, Eve and De La Fouchardière, Arnaud and Molinié, Vincent and Vabres, Pierre and Dalle, Stéphane and Poulalhon, Nicolas and Martin-Denavit, Tanguy and Thomas, Luc and Andry-Benzaquen, Pascale and Dupin, Nicolas and Boitier, Fraņoise and Rossi, Annick and Perrot, Jean-Luc and Labeille, Bruno and Robert, Caroline and Escudier, Bernard and Caron, Olivier and Brugières, Laurence and Saule, Simon and Gardie, Betty and Gad, Sophie and Richard, Stéphane and Couturier, Jérôme and Teh, Bin Tean and Ghiorzo, Paola and Pastorino, Lorenza and Puig, Susana and Badenas, Celia and Olsson, Hakan and Ingvar, Christian and Rouleau, Etienne and Lidereau, Rosette and Bahadoran, Philippe and Vielh, Philippe and Corda, Eve and Blanché, Hélène and Zelenika, Diana and Galan, Pilar and Aubin, Fraņois and Bachollet, Bertrand and Becuwe, Céline and Berthet, Pascaline and Jean Bignon, Yves and Bonadona, Valérie and Bonafe, Jean-Louis and Bonnet-Dupeyron, Marie-Noëlle and Cambazard, Fréderic and Chevrant-Breton, Jacqueline and Coupier, Isabelle and Dalac, Sophie and Demange, Liliane and D'Incan, Michel and Dugast, Catherine and Faivre, Laurence and Vincent-Fétita, Lynda and Gauthier-Villars, Marion and Gilbert, Brigitte and Grange, Florent and Grob, Jean-Jacques and Humbert, Philippe and Janin, Nicolas and Joly, Pascal and Kerob, Delphine and Lasset, Christine and Leroux, Dominique and Levang, Julien and Limacher, Jean-Marc and Livideanu, Cristina and Longy, Michel and Lortholary, Alain and Stoppa-Lyonnet, Dominique and Mansard, Sandrine and Mansuy, Ludovic and Marrou, Karine and Matéus, Christine and Maugard, Christine and Meyer, Nicolas and Nogues, Catherine and Souteyrand, Pierre and Venat-Bouvet, Laurence and Zattara, Hélène and Chaudru, Valérie and Lenoir, Gilbert M and Lathrop, Mark and Davidson, Irwin and Avril, Marie-Fraņoise and Demenais, Florence and Ballotti, Robert and Bressac-De Paillerets, Brigitte and French Familial Melanoma Study Grp and French Familial Melanoma Study Group and The French Familial Melanoma Study Group and Surgery (Lund) and Lund University and Cancer Epidemiology and Cancerepidemiologi and EpiHealth: Epidemiology for Health and Kirurgi, Lund and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
Nature, ISSN 0028-0836, 12/2011, Volume 480, Issue 7375, pp. 94 - 98
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2019, Volume 56, Issue 7, pp. 481 - 490
BackgroundMapping the genetic component of molecular mechanisms responsible for the reduced penetrance (RP) of rare disorders constitutes one of the most... 
heritable pulmonary arterial hypertension | linkage | reduced penetrance | genetic modifier | clinical genetics | BMPR2 | GENOTYPE | RECEPTOR | LOCUS | BLOOD-PRESSURE | FIDGETIN | SETS | GENETICS & HEREDITY | MUTATIONS | EXPRESSION | GENOME-WIDE ASSOCIATION
Journal Article
Pancreatology, ISSN 1424-3903, 2017, Volume 17, Issue 3, pp. S88 - S88
Introduction: Genetic susceptibility for chronic pancreatitis (CrP) and impact of smoking/alcohol abuse show geographical variations. Non cystic fibrosis... 
Endocrinology & Metabolism | Gastroenterology and Hepatology | Pathogenicity | Drug abuse | Abuse | Mortality | Pancreatitis | Cystic fibrosis | Alcohol | Geographical variations | Mutation | Smoking
Journal Article
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, ISSN 0960-7692, 07/2019
To assess the frequency of atypical chromosomal and submicroscopic anomalies [both undetectable using standard cell-free DNA (cfDNA) testing], as well as fetal... 
Journal Article
JAMA Dermatology, ISSN 2168-6068, 10/2016, Volume 152, Issue 10, pp. 1099 - 1105
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2018, Volume 26, Issue 8, pp. 1188 - 1193
The main genetic factors for familial melanoma remain unknown in > 75% of families. CDKN2A is mutated in around 20% of melanoma-prone families. Other high-risk... 
CUTANEOUS MALIGNANT-MELANOMA | TERT PROMOTER MUTATIONS | CANCERS | HIGH-RISK | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | UPDATE | PREVALENCE | ASSOCIATION | Risk groups | Susceptibility | Melanoma | Chromosome 11 | Genomes | Genetic factors | Linkage analysis
Journal Article
Journal Article
Journal Article