Nathalie Le Meur - Concepedia

Author

Nathalie Le Meur

Also Known As

Alice Goldenberg, Crbrales Malformations, Le Meur, N., Le Meur, Nathalie, Meur, Nathalie Le, N Le Meur, N. Le Meur, N. Lemeur, N.L. Meur, Nathalie Le Meur

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

Université de Rouen Normandie Inserm Centre Hospitalier Universitaire de Rouen Établissement Français du Sang Assistance Publique – Hôpitaux de Paris

About

Nathalie Le Meur is an author at Université de Rouen Normandie specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	12	1.7K
2	Public Health	2	2	44
3	Engineering	1	1	41
4	Natural Sciences	1	1	27
5	Biostatistics	1	1	41

Nathalie Le Meur

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy Anne Rovelet‐Lecrux, Didier Hannequin, Grégory Raux, Nature Genetics Alzheimer's DiseaseCerebral Amyloid AngiopathyDementiaNeurochemical BiomarkersNeurology	2005	1.2K
<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Journal of Medical Genetics	2009	220
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
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations Laïla El Khattabi, Solveig Heide, Jean‐Hubert Caberg, Journal of Medical Genetics	2018	93
Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability Audrey Killian, Nathalie Le Meur, Richard Sesboüé, Oncogene ChromatinGenome InstabilityRrb1-pescadillo PathwayGeneticsCell Cycle	2004	68
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes Justine Besseau-Ayasse, C. Violle-Poirsier, Anne Bazin, Prenatal Diagnosis	2014	59
Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling? Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Clinical Genetics	2016	54
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard, European Journal of Human Genetics EpidemiologyClinical PopulationDiagnosisLaboratory MedicineMedicine	2015	52
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study Nicolas Gruchy, Eléonore Blondeel, Nathalie Le Meur, Prenatal Diagnosis	2016	51
Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome Nathalie Le Meur, Cosette Martin, Pascale Saugier-Véber, European Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsStk11 GeneMolecular Genetics	2004	47

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