Sylvie Cabrol

Sylvie Cabrol

UNVERIFIED PROFILE

Are you Sylvie Cabrol?   Register this Author

Register author
Sylvie Cabrol

Sylvie Cabrol

Publications by authors named "Sylvie Cabrol"

Are you Sylvie Cabrol?   Register this Author

33Publications

1276Reads

20Profile Views

Natural history and management of congenital hypothyroidism with in situ thyroid gland.

Horm Res Paediatr 2015 28;83(2):102-10. Epub 2015 Jan 28.

Service d'Endocrinologie, Gynécologie et Diabétologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/362234
Publisher Site
http://dx.doi.org/10.1159/000362234DOI Listing
December 2015

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia.

Eur J Endocrinol 2015 Aug 6;173(2):175-84. Epub 2015 May 6.

Department of Endocrinology and Reproductive MedicineCentre de Référence des Maladies Endocriniennes Rares de la Croissance, AP-HP, IE3M, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FranceUPMC Univ Paris 06Paris, FranceClinical Research UnitAP-HP, Hôpital Pitié-Salpêtrière, Paris, FranceDepartment of Hormonal BiochemistryAP-HP, Hôpital Pitié-Salpêtrière, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFaculté de Médecine Paris-SudUniversité Paris-Sud 11, Le Kremlin-Bicêtre F-94276, FrancePediatric EndocrinologyAP-HP, Hôpital Trousseau, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Robert Debré, Paris, FranceUniversité Paris Diderot Paris 07Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Necker Enfants-Malades, Paris, FranceUniversité Paris Descartes Paris 05Paris, France Department of Endocrinology and Reproductive MedicineCentre de Référence des Maladies Endocriniennes Rares de la Croissance, AP-HP, IE3M, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FranceUPMC Univ Paris 06Paris, FranceClinical Research UnitAP-HP, Hôpital Pitié-Salpêtrière, Paris, FranceDepartment of Hormonal BiochemistryAP-HP, Hôpital Pitié-Salpêtrière, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFaculté de Médecine Paris-SudUniversité Paris-Sud 11, Le Kremlin-Bicêtre F-94276, FrancePediatric EndocrinologyAP-HP, Hôpital Trousseau, Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Robert Debré, Paris, FranceUniversité Paris Diderot Paris 07Paris, FrancePediatric EndocrinologyAP-HP, Hôpital Necker Enfants-Malades, Paris, FranceUniversité Paris Descartes Paris 05Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-14-0978DOI Listing
August 2015

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J Clin Endocrinol Metab 2014 Oct 31;99(10):E2138-43. Epub 2014 Jul 31.

EA7331 Faculté des Sciences Pharmaceutiques (S.M., C.D.), 75006 Paris, France; Laboratoire de Biologie et Génétique Moléculaires (J.S., C.L., C.F., C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service de Pédiatrie et de Génétique Médicale (P.P., C.M.), Centre Hospitalier Universitaire Morvan, 29200 Brest, France; Department of Reproduction and Gynecological Endocrinology (S.W.), PL-15-1276 Bialystok, Poland; Service de Génétique (M.G.), Centre Hospitalier Régional Clémenceau, 14033 Caen, France; Service de Génétique Médicale (E.B.), Hôpital Purpan, 31059 Toulouse, France; Service de Pédiatrie (F.K.), Hôpital Bel Air, 57126 Thionville, France; Service d'Edocrinologie (O.V.-M.), Centre Hospitalier, 59322 Valenciennes, France; UF de Génétique Clinique (L.P.), Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Service de Médecine et d'Endocrinologie (F.A.), Hôpital du Cluzeau, 87042 Limoges, France; Service d'Endocrinologie (S.C.), Hôpital Trousseau, and Service d'Endocrinologie (S.C.-M.), Hôpital St Antoine, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France; Service d'Endocrinologie (P.R.), Centre Hospitalier, 49933 Angers, France; Department of Clinical Genetics (H.H.), University Hospital, DK-1165 Copenhagen, Denmark; Department of Medical Genetics (T.P.), Hospital HF Rikshospital, 0424 Oslo, Norway; Service de Génétique Médicale (D.L.), Hôpital Pellegrin, 33076 Bordeaux, France; Service d'Endocrinologie (P.T.), Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France; Service d'Endocrinologie (S.H.), Hôpital l'Archet, 06003 Nice, France; Service de Gynécologie Endocrinienne (D.D.), Hôpital Jeanne de Flandre, 59037 Lille, France; Service d'Endocrinologie (J.Y.), Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, 94275 Le Kremlin-Bicêtre, France; and Service d'Endocrinologie (M.P.), Hôpital Neurologiqu

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-2110DOI Listing
October 2014

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Eur J Med Genet 2012 Nov 15;55(11):635-40. Epub 2012 Jul 15.

Service de Génétique et Embryologie médicales, Hôpital Armand Trousseau, APHP, UPMC, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.07.001DOI Listing
November 2012

Cardiovascular findings and management in Turner syndrome: insights from a French cohort.

Eur J Endocrinol 2012 Oct 16;167(4):517-22. Epub 2012 Jul 16.

Department of Endocrinology, Centre de référence des Maladies Endocriniennes Rares de la Croissance (CMERC), Assistance Publique - Hôpitaux de Paris, Saint Antoine Hospital, 184 Rue du Faubourg Saint-Antoine, 75011 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-12-0434DOI Listing
October 2012

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.

Clin Dysmorphol 2012 Jan;21(1):11-4

Département de Génétique et Cytogénétique et Centre de référence 'déficiences intellectuelles de causes rares', Groupe Hospitalier Pitié-Salpêtrière, Tours, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32834af5a7DOI Listing
January 2012

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.

J Clin Endocrinol Metab 2011 Apr 9;96(4):E746-53. Epub 2011 Feb 9.

Department of Pediatric Endocrinology, Hôpital Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Pierre and Marie Curie University, 75012 Paris, France.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2010-2103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393421PMC
April 2011

[Epigenetics, genomic imprinting and developmental disorders].

Bull Acad Natl Med 2010 Feb;194(2):287-97; discussion 297-300

UPMC ParisVI-INSERM UMRS.938, Paris, France.

View Article

Download full-text PDF

Source
February 2010

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.

Hum Mol Genet 2009 Dec 14;18(24):4724-33. Epub 2009 Sep 14.

Laboratoire d'Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Armand Trousseau, INSERM UMR-S938 Team 4, Université Pierre et Marie Curie-Paris 6, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp435DOI Listing
December 2009

The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits.

J Clin Endocrinol Metab 2009 Jul 21;94(7):2406-13. Epub 2009 Apr 21.

Institut National de la Santé et de la Recherche Médicale, Unité 413, EA4310, Laboratory of Differentiation and Neuronal and Neuroendocrine Communication, University of Rouen, Mont Saint Aignan, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2009-0031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708955PMC
July 2009

Clinical description of infants with congenital hypothyroidism and iodide organification defects.

Horm Res 2008 5;70(4):240-8. Epub 2008 Sep 5.

Pediatric Endocrinology Unit, Hôpital Necker-Enfants Malades, AP-HP and University Paris Descartes, Faculty Necker, INSERM U845, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000151597DOI Listing
December 2008

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.

J Mol Med (Berl) 2007 Mar 21;85(3):247-55. Epub 2006 Nov 21.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine (CMM) L8:02, Karolinska Institutet/Karolinska University Hospital, 17176, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00109-006-0121-xDOI Listing
March 2007

Noonan syndrome: relationships between genotype, growth, and growth factors.

J Clin Endocrinol Metab 2006 Jan 1;91(1):300-6. Epub 2005 Nov 1.

Department of Pediatrics, University Hospital, 49933 Angers, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2005-0983DOI Listing
January 2006

Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone.

J Clin Endocrinol Metab 2005 Sep 5;90(9):5197-204. Epub 2005 Jul 5.

Pediatric Endocrinology and Institut National de la Santé et de la Recherche Médicale, Unité 561, Groupe Hospitalier Cochin-Saint Vincent de Paul, 82 avenue Denfert Rochereau, 75014 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2005-0470DOI Listing
September 2005

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Nat Genet 2005 Sep 7;37(9):1003-7. Epub 2005 Aug 7.

Laboratoire d'Explorations Fonctionnelles Endocriniennes, Inserm U515 et UPMC Paris 6, Hôpital Armand Trousseau, AP-HP, 26 avenue Arnold Netter, 75012 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1629DOI Listing
September 2005

Quality of life determinants in young women with turner's syndrome after growth hormone treatment: results of the StaTur population-based cohort study.

J Clin Endocrinol Metab 2005 Apr 11;90(4):1992-7. Epub 2005 Jan 11.

Department of Pediatric Endocrinology and Institut National de la Santé et de la Recherche Médicale Unité 561, Groupe Hospitalier Cochin-Saint Vincent de Paul, 82 av Denfert Rochereau, 75014 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2004-1395DOI Listing
April 2005

Endocrine consequences of premature pubarche in post-pubertal Caucasian girls.

Clin Endocrinol (Oxf) 2002 Jul;57(1):101-6

Inserm Unit 457, Robert Debré Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1365-2265.2002.01579.xDOI Listing
July 2002