Patricia Blanchet - Concepedia

Author

Patricia Blanchet

Also Known As

Chantal Missirian, Laura Crantelle, P BLANCHET, P Blanchet, P. BLANCHET, P. Blanchet, PATRICIA BLANCHET, Patrice Blanchet, Patricia Blanchet

116

Publications

2.6K

Citations

H-Index

115

Concepts

All Affiliations

Inserm Hôpital Necker-Enfants Malades Hôpital Arnaud de Villeneuve Université Paris Cité Centre Hospitalier Universitaire de Montpellier

About

Patricia Blanchet is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	26	1.3K
2	Health Sciences	2	2	52
3	Arts	1	1	14
4	Natural Sciences	1	1	88
5	Public Health	1	1	33

Patricia Blanchet

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies Louise Devisme, C Bouchet, Marie Gonzalès, Brain	2012	187
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Nathalie Pallarès-Ruiz, Patricia Blanchet, Michel Mondain, European Journal of Human Genetics Auditory ProcessingMendelian DisorderGenetic DisorderGeneticsDegenerative Disease	2002	160
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Marie Vincent, David Geneviève, Agnès Ostertag, Genetics in Medicine Large SeriesCollins SyndromeMolecular StudyPathology	2015	159
Molecular epidemiology of DFNB1 deafness in France Anne‐Françoise Roux, Nathalie Pallarès-Ruiz, Anne Vielle, BMC Medical Genetics	2004	124
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Clémence Vanlerberghe, Florence Petit, Valérie Malan, European Journal of Medical Genetics Cardiovascular DiseaseBehaviour IssuesPediatric Heart DiseasePediatricsCongenital Heart Defect	2015	120
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans Camille Humbert, Flora Silbermann, Bharti Morar, The American Journal of Human Genetics Integrin Alpha 8UrologyDevelopmental BiologyRenal FunctionMedicine	2014	100
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus Patricia Blanchet, Martina Bebin, Shaam Bruet, PLoS Genetics Metabolic DisorderGeneticsDisease Gene IdentificationZebrafish KnockdownVariable Obesity	2017	88
Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization Frédéric Brioude, Irène Netchine, Françoise Praz, Human Mutation	2015	81
Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion Geneviève Lefort, Patricia Blanchet, Nabia Belgrade, American Journal of Medical Genetics Maternal Paracentric InversionCytogeneticsGeneticsMolecular GeneticsEpigenetics	2002	81
Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes Nathalie Dagoneau, Samuel Bellais, Patricia Blanchet, The American Journal of Human Genetics InflammationCytokineMolecular PhysiologyAutoimmune DiseaseDisease Mechanism	2007	69

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