Her main research concerns Genetics, Mutation, Gene, Missense mutation and Internal medicine. Her study in Haploinsufficiency, Proto-Oncogene Proteins c-ret, Candidate gene, Penetrance and Genome-wide association study is carried out as part of her Genetics studies. In her work, Endothelin 3 and Hirschsprung's disease is strongly intertwined with Neurocristopathy, which is a subfield of Penetrance.
Her research in Mutation intersects with topics in Enzyme, Optic disk and Congenital central hypoventilation syndrome. Her Missense mutation research is multidisciplinary, incorporating elements of Heterozygote advantage, Encephalopathy and Frameshift mutation. Her Internal medicine research incorporates elements of Endocrinology, Low birth weight and Overgrowth syndrome.
Jeanne Amiel mostly deals with Genetics, Internal medicine, Missense mutation, Phenotype and Mutation. Her Genetics study is mostly concerned with Gene, Haploinsufficiency, Allele, Exome sequencing and Microcephaly. Her primary area of study in Gene is in the field of Candidate gene.
Jeanne Amiel focuses mostly in the field of Internal medicine, narrowing it down to topics relating to Endocrinology and, in certain cases, Congenital central hypoventilation syndrome. Her Phenotype study typically links adjacent topics like Craniofacial. Mutation and Pathology are commonly linked in her work.
Jeanne Amiel mainly investigates Genetics, Missense mutation, Phenotype, Mutation and Intellectual disability. Her study involves Allele, Haploinsufficiency, Exome sequencing, Loss function and Point mutation, a branch of Genetics. Missense mutation is a subfield of Gene that she studies.
Her Phenotype research includes themes of Bioinformatics, Zebrafish, Gene knockdown and Pathology. Her Mutation study integrates concerns from other disciplines, such as Endocrinology, Facioscapulohumeral muscular dystrophy, Chromatin, Microcephaly and Epigenetics. Her Intellectual disability study also includes fields such as
Her primary areas of investigation include Genetics, Mutation, Allele, Phenotype and Missense mutation. Her Genetics study focuses mostly on Chromatin, Pulmonary hypoplasia, Hypotonia, Candidate gene and Sanger sequencing. Her study in Mutation is interdisciplinary in nature, drawing from both Prenatal diagnosis, Endocrinology, Epigenetics and Internal medicine.
Her Allele study incorporates themes from Retinal degeneration, Fryns syndrome, Brachydactyly and Retinitis pigmentosa. Her work on Exome sequencing as part of general Phenotype research is frequently linked to Histone acetyltransferase complex, bridging the gap between disciplines. Her Missense mutation study introduces a deeper knowledge of Gene.
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Lamin a truncation in hutchinson-gilford progeria
Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Pierre Cau;Claire Navarro.
Hirschsprung disease, associated syndromes and genetics: a review
Jeanne Amiel;Stanislas Lyonnet.
Journal of Medical Genetics (2001)
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
Isabelle Janoueix-Lerosey;Delphine Lequin;Delphine Lequin;Laurence Brugières;Agnès Ribeiro.
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Véronique Pingault;Nadège Bondurand;Kirsten Kuhlbrodt;Derk E. Goerich.
Nature Genetics (1998)
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Jeanne Amiel;Béatrice Laudier;Tania Attié-Bitach;Ha Trang.
Nature Genetics (2003)
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
Patrick Edery;Tania Attie;Jeanne Amiel;Anna Pelet.
Nature Genetics (1996)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan.
Nature Genetics (2009)
Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy
Isabelle Valnot;Sandrine Osmond;Nadine Gigarel;Blandine Mehaye.
American Journal of Human Genetics (2000)
Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont;D Sanlaville;R Redon;O Raoul.
Journal of Medical Genetics (2006)
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
Tania Attié;Anna Pelet;Patrick Edery;Charis Eng;Charis Eng.
Human Molecular Genetics (1995)
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