Sylvie Cabrol

Biochemistry, Genetics and Molecular Biology · Life Sciences

30h-index7.0kcitations49works0.02yr avg
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Research Topics

Sexual Differentiation and Disorders(13), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(12), Growth Hormone and Insulin-like Growth Factors(8), Epigenetics and DNA Methylation(5), Prenatal Screening and Diagnostics(5)

Publications49 total

Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance - Identification of New Variants and Impact on the Inheritance Pattern
55th ESPE Meeting·2016· 3 cited
Human 3[beta]-hydroxysteroid dehydrogenase deficiency associated with a normal spermatic numeration despite a severe enzyme deficit, after an accomplished transition period
Endocrine Abstracts·2016Open Access
Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia
European Journal of Endocrinology·2015· 43 cited
Author and Subject Index Vol. 83, No. 2, 2015
Hormone Research in Paediatrics·2015Open Access
Title Page / Table of Contents
Hormone Research in Paediatrics·2015
Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland
Hormone Research in Paediatrics·2015· 24 cited
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
Journal of Pediatric Endocrinology and Metabolism·2014· 6 cited
The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
The Journal of Clinical Endocrinology & Metabolism·2014· 86 citedOpen Access
Cardiovascular findings and management in Turner syndrome: insights from a French cohort
European Journal of Endocrinology·2012· 49 citedOpen Access
Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling
European Journal of Medical Genetics·2012· 64 cited
Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys
European Journal of Endocrinology·2012· 115 cited
Floating-Harbor Syndrome
Clinical Dysmorphology·2011· 15 cited
Insulin-Like Peptide 3, a Novel Marker of Leydig Cell Function during Minipuberty
2011
Using Single Nucleotide Polymorphisms (SNPs) To Predict Year 1 and Year 2 Growth Response to Growth Hormone (GH) Therapy in Children with GH Deficiency (GHD) and Turner Syndrome (TS)
2011
Assessment of Leydig and Sertoli Cell Functions in Infants with Nonmosaic Klinefelter Syndrome: Insulin-Like Peptide 3 Levels Are Normal and Positively Correlated with LH Levels
The Journal of Clinical Endocrinology & Metabolism·2011· 84 citedOpen Access
Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients
The Journal of Clinical Endocrinology & Metabolism·2010· 210 cited
Anomalies épigénétiques et de l’empreinte parentale dans les maladies du développement humain
Bulletin de l Académie Nationale de Médecine·2010· 4 cited
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes
The Journal of Clinical Endocrinology & Metabolism·2009· 145 cited
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
Human Molecular Genetics·2009· 124 citedOpen Access
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
Human Molecular Genetics·2009· 249 citedOpen Access
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Frequent Co-authors

Yves Le Bouc(13), Juliane Léger(11), Michel Polak(9), Jean‐Claude Carel(8), Jacques Young(7), Muriel Houang(7), Mireille Castanet(7), Christine Gicquel(6), Irène Netchine(6), Claire Bouvattier(6), Paul Czernichow(6), Raja Brauner(6), Michel Polak(6), Sylvie Rossignol(5), Aurore Carré(5), Najiba Lahlou(4), Catherine Dodé(4), Philippe Bouchard(4), Jean‐Pierre Hardelin(4), Salah Azzi(4)