Sylvie Manouvrier‐Hanu

Author

Also Known As

S Manouvrier-Hanu, S Manouvrier‐Hanu, S Manouvríer-Hanu, S. Manouvrier-Hanu, S. Manouvrier‐Hanu, Sylvie Manouvrier-Hanu, Sylvie Manouvrier‐Hanu

Publications

1.8K

Citations

H-Index

Concepts

All Affiliations

Hôpital Jeanne de Flandre Hôpital Robert-Debré Inserm Assistance Publique – Hôpitaux de Paris Laboratoire de Génétique Cellulaire

About

Sylvie Manouvrier‐Hanu is an author at Hôpital Jeanne de Flandre specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	1.4K
2	Public Health	2	2	41
3	Allergy	2	2	162
4	Counseling	1	1	14
5	Family Medicine	1	1	14

Sylvie Manouvrier‐Hanu

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
CARD15 mutations in Blau syndrome Corinne Miceli‐Richard, Suzanne Lesage, M. Rybojad, Nature Genetics Mendelian DisorderOphthalmologyGenetic DisorderMedicineGenetics	2001	960
<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
<i>EFTUD2</i> haploinsufficiency leads to syndromic oesophageal atresia Christopher T. Gordon, Florence Petit, Myriam Oufadem, Journal of Medical Genetics	2012	96
Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature Sylvie Manouvrier‐Hanu, Bernard Puech, Fanny Piette, American Journal of Medical Genetics Ocular DiseaseVasculitisSkin RashDermatologyEye Involvement	1998	89
Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family Luís A. Moreno, Frédèric Gottrand, Dominique Turck, American Journal of Medical Genetics Primary ImmunodeficiencyAutoimmune DiseaseAllergyGenetic DisorderImmunodeficiencies	1990	73
Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Human Mutation Developmental AnomalyClinical DisordersRare DiseasesDevelopmental BiologyExternal Ear Anomalies	2014	57
Myhre and LAPS syndromes: clinical and molecular review of 32 patients Caroline Michot, Carine Le Goff, Clémentine Mahaut, European Journal of Human Genetics ImmunologyPathologyMolecular ReviewMedicineLaps Syndromes	2014	53
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders Stephen P. Robertson, Sarah Thompson, Timothy Morgan, European Journal of Human Genetics Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsGermline Mosaicism	2006	44
Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling Ali Houeijeh, Joris Andrieux, Pascale Saugier-Véber, European Journal of Medical Genetics Genetic DisorderInherited Metabolic DiseaseGenetic EpidemiologyHematologyAssociated 1Q21.1	2011	32
Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels. Sylvie Manouvrier‐Hanu, Louise Devisme, I. Modolelli Farré, PubMed New FamilyUrologyVesico-ureteral RefluxPulmonary Arterial HypertensionPulmonary Circulation	1996	27

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