André Mégarbané - Concepedia

Author

André Mégarbané

Also Known As

A M??GARBAN??, A MEGARBANE, A Megarbane, A MÉGARBANÉ, A Mégarbane, A Mégarbané, A. M??garban??, A. MEGARBANE, A. Megarbane, A. Megarbané

494

Publications

16.9K

Citations

H-Index

221

Concepts

All Affiliations

Saint Joseph University Inserm Fondation Jérôme-Lejeune Hôtel-Dieu de France Université Paris Cité

About

André Mégarbané is an author at Saint Joseph University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	50	124	9.2K
2	Natural Sciences	12	12	1.5K
3	Health Sciences	4	4	79
4	Arts	2	2	77
5	Engineering	1	1	123

André Mégarbané

229

Publications

15K

Citations

H-Index

Page 1

	Year	Citations
Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13 Jocelyne Magré, Marc Délepine, Eliane Khallouf, Nature Genetics Genetic DisorderGeneticsPathologyBerardinelli–seip Congenital LipodystrophyMolecular Genetics	2001	744
Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism Anita Rauch, Christian T. Thiel, Detlev Schindler, Science BiologyPcnt ResultsDevelopmental BiologyHuman GrowthCytogenetics	2008	392
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome Eva Klopocki, Harald Schulze, Gabriele Strauß, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsHematologyClinical Genetics	2007	367
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Genetics in Medicine Intimate RelationshipGender StudiesSociologyConsanguineous MarriagesForced Marriage	2011	333
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production Anja Brehm, Yin Liu, Afzal Sheikh, Journal of Clinical Investigation GeneticsImmunodeficienciesImmunologyProteasomeMolecular Biology	2015	330
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation Seth L. Masters, Vasiliki Lagou, Isabelle Jéru, Science Translational Medicine	2016	306
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Corinne Stoetzel, Virginie Laurier, Erica E. Davis, Nature Genetics Protein FunctionVertebrate-specific Chaperonin-like ProteinProtein FoldingGeneticsMedicine	2006	284
ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsAdamts10 MutationsGenetic Epidemiology	2004	278
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti, The American Journal of Human Genetics GeneticsRecessive Hypomyelinating LeukodystrophyMolecular BiologyDegenerative DiseaseMolecular Genetics	2011	267
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein Lesley McGregor, Ville Makela, S. M. Darling, Nature Genetics Fraser SyndromeFibrosisDevelopmental BiologyMendelian DisorderGenetic Disorder	2003	257

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