Annick Toutain - Concepedia

Author

Annick Toutain

Centre Hospitalier Universitaire de Tours ORCID

Also Known As

A TOUTAIN, A Toutain, A. Toutain, ANNICK TOUTAIN, Agathe Roubertie, Agnès Toutain, André Vincentelli, Anick Toutain, Annick Toutain, Annick Toutain (330230)

352

Publications

14.1K

Citations

H-Index

189

Concepts

All Affiliations

Centre Hospitalier Universitaire de Tours Inserm Assistance Publique – Hôpitaux de Paris Sorbonne Université Université de Tours

About

Annick Toutain is an author at Centre Hospitalier Universitaire de Tours specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	46	97	7.2K
2	Natural Sciences	4	4	429
3	Arts	2	2	125
4	Engineering	2	2	69
5	Health Sciences	2	2	226

Annick Toutain

177

Publications

12.3K

Citations

H-Index

Page 1

	Year	Citations
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
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) Valérie Belin, Véronica Cusin, Géraldine Viot, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsHistopathologyPathology	1998	356
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up Denis Duboc, Christophe Meune, Bertrand Pierre, American Heart Journal Perindopril Preventive TreatmentDuchenne Muscular DystrophyDegenerative DiseaseOrthopaedicsMedicine	2007	345
Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation Mitsuhiro Kato, Soma Das, Kristin Petras, Human Mutation GeneticsPathologyMolecular GeneticsMendelian DisorderGenotype-phenotype Association	2004	327
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Robert Lyle, Frédérique Béna, Sarantis Gagos, European Journal of Human Genetics Down SyndromeArray CghCytogeneticsGenetic DisorderGenetics	2008	325
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome Lekbir Baala, Sophie Audollent, Jelena Martinović, The American Journal of Human Genetics Mendelian DisorderDisease MechanismGenetic DisorderMeckel SyndromeGenetics	2007	280
Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathologyMolecular Genetics	2007	256
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome Caroline Nava, Nadine Hanna, Caroline Michot, Journal of Medical Genetics	2007	253
Mutations in the pre-replication complex cause Meier-Gorlin syndrome Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsDna ReplicationMolecular Genetics	2011	250
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Circulation	2019	245

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