His primary areas of investigation include Genetics, Mutation, Locus, Candidate gene and Missense mutation. His work on Genetics is being expanded to include thematically relevant topics such as Molecular biology. He combines subjects such as Methylation, DNA methylation, Pathogenesis, Weill–Marchesani syndrome and Short stature with his study of Mutation.
His work carried out in the field of Locus brings together such families of science as Bardet–Biedl syndrome, Oligogenic Inheritance, Zebrafish and Haplotype. His studies in Candidate gene integrate themes in fields like Nonsense mutation, Chromosome 21, Chromosomal Abnormality and Gene mapping. His Missense mutation study also includes
Genetics, Short stature, Internal medicine, Mutation and Gene are his primary areas of study. His research related to Missense mutation, Locus, Consanguinity, Genetic heterogeneity and Disease gene identification might be considered part of Genetics. The concepts of his Locus study are interwoven with issues in Gene mapping, Haplotype and Candidate gene.
His Short stature study deals with Microcephaly intersecting with Exome sequencing. His Internal medicine research is multidisciplinary, incorporating elements of Endocrinology and Pathology. His Gene study often links to related topics such as Molecular biology.
The scientist’s investigation covers issues in Genetics, Exome sequencing, Missense mutation, Internal medicine and Gene. His study in Human genetics, Consanguinity, Sanger sequencing, Whole genome sequencing and Ciliopathies is done as part of Genetics. His Whole genome sequencing study integrates concerns from other disciplines, such as Mutation and Proband.
His research integrates issues of Genetic heterogeneity, Microcephaly and Short stature in his study of Exome sequencing. André Mégarbané has included themes like Endocrinology, Oncology, Mutation and Pathology in his Internal medicine study. His Gene research incorporates elements of Pediatrics and Epilepsy.
André Mégarbané mostly deals with Genetics, Missense mutation, Human genetics, Internal medicine and Intellectual disability. His study connects Family history and Genetics. His Missense mutation study combines topics from a wide range of disciplines, such as Molecular biology, PSMA3, PSMB8 and Proteasome.
His Human genetics research includes themes of Phenotype, Disease and Bioinformatics. The various areas that he examines in his Internal medicine study include Exome sequencing, Endocrinology and Single-nucleotide polymorphism. His work in Intellectual disability tackles topics such as Cohort which are related to areas like Genetic heterogeneity.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Jocelyne Magré;Marc Delépine;Eliane Khallouf;Tobias Gedde-Dahl.
Nature Genetics (2001)
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick.
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Eva Klopocki;Harald Schulze;Gabriele Strauß;Claus-Eric Ott.
American Journal of Human Genetics (2007)
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller.
Nature Genetics (2006)
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
Hanan Hamamy;Stylianos E. Antonarakis;Luigi Luca Cavalli-Sforza;Samia Temtamy.
Genetics in Medicine (2011)
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
L. Van Maldergem;J. Magre;T. E. Khallouf;T. Gedde-Dahl.
Journal of Medical Genetics (2002)
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
Nathalie Dagoneau;Catherine Benoist-Lasselin;Céline Huber;Laurence Faivre.
American Journal of Human Genetics (2004)
The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome
André Mégarbané;Aimé Ravel;Clotilde Mircher;Franck Sturtz.
Genetics in Medicine (2009)
Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
Lynn Adaimy;Eliane Chouery;Hala Mégarbané;Salman Mroueh.
American Journal of Human Genetics (2007)
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
Lesley McGregor;Vile Makela;Susan M. Darling;Susan M. Darling;Sofia Vrontou.
Nature Genetics (2003)
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