Valérie Cormier-Daire mostly deals with Genetics, Mutation, Gene, Frameshift mutation and Missense mutation. Valérie Cormier-Daire combines subjects such as Molecular biology and Short stature with her study of Genetics. She has included themes like Endocrinology, Phenotype, Ciliopathy, Intellectual disability and Internal medicine in her Mutation study.
In her study, Proband is inextricably linked to Genotype, which falls within the broad field of Phenotype. Her Internal medicine research incorporates themes from Haploinsufficiency and Scoliosis. Her Missense mutation study combines topics from a wide range of disciplines, such as Sotos syndrome, Genetic predisposition and Bioinformatics.
Her primary areas of study are Genetics, Mutation, Internal medicine, Pediatrics and Dysplasia. Her work on Short stature expands to the thematically related Genetics. Her Mutation study incorporates themes from Molecular biology, Pathology and Exon.
Her work carried out in the field of Internal medicine brings together such families of science as Gastroenterology, Endocrinology and Respiratory chain. Her studies deal with areas such as Acromicric dysplasia and Anatomy as well as Dysplasia. She studies Exome sequencing, focusing on Exome in particular.
Valérie Cormier-Daire mainly focuses on Genetics, Pediatrics, Missense mutation, Dysplasia and Phenotype. Her Gene, Proband, Sanger sequencing, Exon and Intellectual disability investigations are all subjects of Genetics research. The concepts of her Pediatrics study are interwoven with issues in Airway obstruction, Acromicric dysplasia, Sleep apnea, Disease and Obstructive sleep apnea.
The various areas that Valérie Cormier-Daire examines in her Missense mutation study include Cilium, Centriole, Intraflagellar transport and Germline. Valérie Cormier-Daire interconnects Achondroplasia, Spondyloepimetaphyseal dysplasia and Short stature in the investigation of issues within Dysplasia. As a part of the same scientific family, Valérie Cormier-Daire mostly works in the field of Short stature, focusing on Exome sequencing and, on occasion, Internal medicine, Pathology and Genetic heterogeneity.
Her primary scientific interests are in Cell biology, Missense mutation, Haploinsufficiency, Intellectual disability and Genetics. Valérie Cormier-Daire combines topics linked to Intraflagellar transport with her work on Cell biology. Her research in Missense mutation intersects with topics in Cilium, Ciliopathies, Centriole and Ciliopathy.
Her Haploinsufficiency research includes elements of Mucocutaneous zone, MAPK8, Connective tissue, Connective Tissue Disorder and Chronic mucocutaneous candidiasis. Her biological study spans a wide range of topics, including Proband, Craniofacial and Exon. Valérie Cormier-Daire integrates many fields, such as Genetics and H3K4me3, in her works.
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Nosology and classification of genetic skeletal disorders : 2010 revision
Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow.
American Journal of Medical Genetics Part A (2011)
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman.
American Journal of Medical Genetics Part A (2015)
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells
Ludovic de Beaucoudrey;Ludovic de Beaucoudrey;Anne Puel;Anne Puel;Orchidée Filipe-Santos;Orchidée Filipe-Santos;Aurélie Cobat;Aurélie Cobat.
Journal of Experimental Medicine (2008)
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
V Belin;V Cusin;G Viot;D Girlich.
Nature Genetics (1998)
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)
Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans.
Nature Communications (2016)
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)
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker.
American Journal of Human Genetics (2006)
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
Cynthia F. Bartels;Hülya Bükülmez;Hülya Bükülmez;Pius Padayatti;David K. Rhee.
American Journal of Human Genetics (2004)
Nosology and classification of genetic skeletal disorders: 2019 revision.
Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall.
American Journal of Medical Genetics Part A (2019)
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