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Items: 1 to 50 of 81

1.

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

Bachelot A, Golmard JL, Dulon J, Dahmoune N, Leban M, Bouvattier C, Cabrol S, Leger J, Polak M, Touraine P.

Eur J Endocrinol. 2015 Aug;173(2):175-84. doi: 10.1530/EJE-14-0978. Epub 2015 May 6.

PMID:
25947139
2.

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

Castanet M, Goischke A, Léger J, Thalassinos C, Rodrigue D, Cabrol S, Zenaty D, al-Harbi M, Polak M, Czernichow P; Fédération Parisienne pour le Dépistage et la Prévention des Handicaps de l''Enfant (FDPHE).

Horm Res Paediatr. 2015;83(2):102-10. doi: 10.1159/000362234. Epub 2015 Jan 28.

PMID:
25634148
3.

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

Ramos HE, Carré A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Léger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M.

Eur J Endocrinol. 2014 Oct;171(4):499-507. doi: 10.1530/EJE-13-1006.

PMID:
25214233
4.

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.

Cerqueira TL, Carré A, Chevrier L, Szinnai G, Tron E, Léger J, Cabrol S, Queinnec C, De Roux N, Castanet M, Polak M, Ramos HE.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):777-84. doi: 10.1515/jpem-2014-0194.

PMID:
25153578
5.

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

Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. Erratum in: J Clin Endocrinol Metab. 2015 Jan;100(1):317.

PMID:
25077900
6.

The French version of the autism-spectrum quotient in adolescents: a cross-cultural validation study.

Sonié S, Kassai B, Pirat E, Bain P, Robinson J, Gomot M, Barthélémy C, Charvet D, Rochet T, Tatou M, Assouline B, Cabrol S, Chabane N, Arnaud V, Faure P, Manificat S.

J Autism Dev Disord. 2013 May;43(5):1178-83. doi: 10.1007/s10803-012-1663-0.

PMID:
23015111
7.

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

Portnoï MF, Chantot-Bastaraud S, Christin-Maitre S, Carbonne B, Beaujard MP, Keren B, Lévy J, Dommergues M, Cabrol S, Hyon C, Siffroi JP.

Eur J Med Genet. 2012 Nov;55(11):635-40. doi: 10.1016/j.ejmg.2012.07.001. Epub 2012 Jul 15.

PMID:
22809487
8.

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

Donadille B, Rousseau A, Zenaty D, Cabrol S, Courtillot C, Samara-Boustani D, Salenave S, Monnier-Cholley L, Meuleman C, Jondeau G, Iserin L, Duranteau L, Cabanes L, Bourcigaux N, Bonnet D, Bouchard P, Chanson P, Polak M, Touraine P, Lebouc Y, Carel JC, Léger J, Christin-Maitre S.

Eur J Endocrinol. 2012 Oct;167(4):517-22. doi: 10.1530/EJE-12-0434. Epub 2012 Jul 16.

PMID:
22802424
9.

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys.

Martinerie L, Morel Y, Gay CL, Pienkowski C, de Kerdanet M, Cabrol S, Lecointre C, Coutant R, Baron S, Colle M, Brauner R, Thibaud E, Leger J, Nihoul-Fekete C, Bouvattier C.

Eur J Endocrinol. 2012 Apr;166(4):687-94. doi: 10.1530/EJE-11-0756. Epub 2012 Jan 11.

PMID:
22236473
10.

Evolution of IGF-1 in children born small for gestational age and with growth retardation, treated by growth hormone adapted to IGF-1 levels after 1 year.

Cabrol S, Perin L, Colle M, Coutant R, Jésuran-Perelroizen M, Le Bouc Y, Czernichow P.

Horm Res Paediatr. 2011;76(6):419-27. doi: 10.1159/000334651. Epub 2011 Dec 8.

PMID:
22156543
11.

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

Arpin S, Afenjar A, Dubern B, Toutain A, Cabrol S, Héron D.

Clin Dysmorphol. 2012 Jan;21(1):11-4. doi: 10.1097/MCD.0b013e32834af5a7.

PMID:
21955542
12.

Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

Linglart A, Cabrol S, Berlier P, Stuckens C, Wagner K, de Kerdanet M, Limoni C, Carel JC, Chaussain JL; French Collaborative Young Turner Study Group.

Eur J Endocrinol. 2011 Jun;164(6):891-7. doi: 10.1530/EJE-10-1048. Epub 2011 Mar 11.

PMID:
21398400
13.

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.

Cabrol S, Ross JL, Fennoy I, Bouvattier C, Roger M, Lahlou N.

J Clin Endocrinol Metab. 2011 Apr;96(4):E746-53. doi: 10.1210/jc.2010-2103. Epub 2011 Feb 9.

14.

[Epigenetics, genomic imprinting and developmental disorders].

Le Bouc Y, Rossignol S, Azzi S, Brioude F, Cabrol S, Gicquel C, Netchine I.

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

PMID:
21166119
15.

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C.

J Clin Endocrinol Metab. 2011 Feb;96(2):296-307. doi: 10.1210/jc.2010-1024. Epub 2010 Dec 8.

PMID:
21147889
16.

[Is there a risk of steroid-induced adrenal deficit after induction treatment of acute lymphoblastic leukemia?].

Bélien-Pallet V, Cabrol S, Fasola S, Petit A, Landman-Parker J, Auvrignon A, Leverger G.

Arch Pediatr. 2010 Dec;17(12):1637-44. doi: 10.1016/j.arcped.2010.09.001. Epub 2010 Oct 12. French.

PMID:
20943354
17.

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Piñero A, Wolczynski S, Brailly-Tabard S, Bidet M, Ramos-Arroyo M, Mathieu M, Lienhardt-Roussie A, Morgan G, Turki Z, Bremont C, Lespinasse J, Du Boullay H, Chabbert-Buffet N, Jacquemont S, Reach G, De Talence N, Tonella P, Conrad B, Despert F, Delobel B, Brue T, Bouvattier C, Cabrol S, Pugeat M, Murat A, Bouchard P, Hardelin JP, Dodé C, Young J.

J Clin Endocrinol Metab. 2010 Feb;95(2):659-69. doi: 10.1210/jc.2009-0843. Epub 2009 Dec 18.

PMID:
20022991
18.

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.

Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C.

Hum Mol Genet. 2010 Mar 1;19(5):803-14. doi: 10.1093/hmg/ddp549. Epub 2009 Dec 9.

PMID:
20007505
19.

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.

Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I.

Hum Mol Genet. 2009 Dec 15;18(24):4724-33. doi: 10.1093/hmg/ddp435. Epub 2009 Sep 14.

PMID:
19755383
20.

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.

Louiset E, Stratakis CA, Perraudin V, Griffin KJ, Libé R, Cabrol S, Fève B, Young J, Groussin L, Bertherat J, Lefebvre H.

J Clin Endocrinol Metab. 2009 Jul;94(7):2406-13. doi: 10.1210/jc.2009-0031. Epub 2009 Apr 21.

21.

Management of Wilms tumors in Drash and Frasier syndromes.

Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S.

Pediatr Blood Cancer. 2009 Jan;52(1):55-9. doi: 10.1002/pbc.21759.

PMID:
18816692
22.

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

Cavarzere P, Castanet M, Polak M, Raux-Demay MC, Cabrol S, Carel JC, Léger J, Czernichow P.

Horm Res. 2008;70(4):240-8. doi: 10.1159/000151597. Epub 2008 Sep 5.

PMID:
18772598
23.

Perrault syndrome: report of four new cases, review and exclusion of candidate genes.

Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F.

Am J Med Genet A. 2008 Mar 1;146A(5):661-4. doi: 10.1002/ajmg.a.32180.

PMID:
18241061
24.

Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.

Salenave S, Chanson P, Bry H, Pugeat M, Cabrol S, Carel JC, Murat A, Lecomte P, Brailly S, Hardelin JP, Dodé C, Young J.

J Clin Endocrinol Metab. 2008 Mar;93(3):758-63. Epub 2007 Dec 26.

PMID:
18160472
25.

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.

Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y.

J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. Epub 2007 May 15. Erratum in: J Clin Endocrinol Metab. 2007 Nov;92(11):4305.

PMID:
17504900
26.

[Postembolic pulmonary hypertension].

Jais X, Dartevelle P, Parent F, Sitbon O, Humbert M, Fadel E, Mussot S, Cabrol S, Le Pavec J, Sztrymf B, Tcherakian C, Musset D, Maitre S, Simonneau G.

Rev Mal Respir. 2007 Apr;24(4 Pt 1):497-508. Review. French.

PMID:
17468706
27.

Intravenous epoprostenol in inoperable chronic thromboembolic pulmonary hypertension.

Cabrol S, Souza R, Jais X, Fadel E, Ali RH, Humbert M, Dartevelle P, Simonneau G, Sitbon O.

J Heart Lung Transplant. 2007 Apr;26(4):357-62.

PMID:
17403477
28.

[Turner syndrome].

Cabrol S.

Ann Endocrinol (Paris). 2007 Feb;68(1):2-9. Epub 2007 Feb 22. Review. French.

PMID:
17320033
29.

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

Robins T, Bellanne-Chantelot C, Barbaro M, Cabrol S, Wedell A, Lajic S.

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

PMID:
17119906
30.

Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment.

Zenaty D, Dijoud F, Morel Y, Cabrol S, Mouriquand P, Nicolino M, Bouvatier C, Pinto G, Lecointre C, Pienkowski C, Soskin S, Bost M, Bertrand AM, El-Ghoneimi A, Nihoul-Fekete C, Léger J.

J Pediatr. 2006 Nov;149(5):687-91.

PMID:
17095345
31.

Self-esteem and social adjustment in young women with Turner syndrome--influence of pubertal management and sexuality: population-based cohort study.

Carel JC, Elie C, Ecosse E, Tauber M, Léger J, Cabrol S, Nicolino M, Brauner R, Chaussain JL, Coste J.

J Clin Endocrinol Metab. 2006 Aug;91(8):2972-9. Epub 2006 May 23.

PMID:
16720662
32.

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S.

J Clin Invest. 2006 Mar;116(3):760-8.

33.

Long-term outcome with first-line bosentan therapy in idiopathic pulmonary arterial hypertension.

Provencher S, Sitbon O, Humbert M, Cabrol S, Jaïs X, Simonneau G.

Eur Heart J. 2006 Mar;27(5):589-95. Epub 2006 Jan 23.

PMID:
16431875
34.

[Treatment of pulmonary arterial hypertension].

Montani D, Sitbon O, Jaïs X, Cabrol S, Simonneau G, Humbert M.

Presse Med. 2005 Nov 5;34(19 Pt 2):1445-55. Review. French.

PMID:
16301976
35.

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

Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y.

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

PMID:
16263833
36.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.

Ulinski T, Perrin L, Morris M, Houang M, Cabrol S, Grapin C, Chabbert-Buffet N, Bensman A, Deschênes G, Giurgea I.

J Clin Endocrinol Metab. 2006 Jan;91(1):192-5. Epub 2005 Nov 1.

PMID:
16263818
37.

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

Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y.

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

PMID:
16086014
38.

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.

Pinto G, Abadie V, Mesnage R, Blustajn J, Cabrol S, Amiel J, Hertz-Pannier L, Bertrand AM, Lyonnet S, Rappaport R, Netchine I.

J Clin Endocrinol Metab. 2005 Oct;90(10):5621-6. Epub 2005 Jul 19.

PMID:
16030162
39.

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

Soriano-Guillen L, Coste J, Ecosse E, Léger J, Tauber M, Cabrol S, Nicolino M, Brauner R, Chaussain JL, Carel JC.

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

PMID:
15998771
40.

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

Carel JC, Ecosse E, Bastie-Sigeac I, Cabrol S, Tauber M, Léger J, Nicolino M, Brauner R, Chaussain JL, Coste J.

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

PMID:
15644402
41.

Diagnosing celiac disease: a comparison of human tissue transglutaminase antibodies with antigliadin and antiendomysium antibodies.

Baudon JJ, Johanet C, Absalon YB, Morgant G, Cabrol S, Mougenot JF.

Arch Pediatr Adolesc Med. 2004 Jun;158(6):584-8.

PMID:
15184223
42.

Endocrine involvement in pediatric-onset Langerhans' cell histiocytosis: a population-based study.

Donadieu J, Rolon MA, Thomas C, Brugieres L, Plantaz D, Emile JF, Frappaz D, David M, Brauner R, Genereau T, Debray D, Cabrol S, Barthez MA, Hoang-Xuan K, Polak M; French LCH Study Group.

J Pediatr. 2004 Mar;144(3):344-50.

PMID:
15001940
43.

Incidence of growth hormone deficiency in pediatric-onset Langerhans cell histiocytosis: efficacy and safety of growth hormone treatment.

Donadieu J, Rolon MA, Pion I, Thomas C, Doz F, Barkaoui M, Robert A, Deville A, Mazingue F, David M, Brauner R, Cabrol S, Garel C, Polak M; French LCH Study Group.

J Clin Endocrinol Metab. 2004 Feb;89(2):604-9.

PMID:
14764769
44.

Transcription of quorum-sensing system genes in clinical and environmental isolates of Pseudomonas aeruginosa.

Cabrol S, Olliver A, Pier GB, Andremont A, Ruimy R.

J Bacteriol. 2003 Dec;185(24):7222-30.

45.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.

Nat Genet. 2003 Apr;33(4):463-5. Epub 2003 Mar 10.

PMID:
12627230
46.

[Hemangioma in Turner syndrome].

Mordi A, Batoko A, Strock P, Cabrol S, Sevestre C, Delteil C.

Presse Med. 2002 Sep 28;31(31):1458-9. French. No abstract available.

PMID:
12395737
47.
48.

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

Meas T, Chevenne D, Thibaud E, Léger J, Cabrol S, Czernichow P, Lévy-Marchal C.

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

PMID:
12100077
49.

IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation.

Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y.

J Clin Endocrinol Metab. 2001 Nov;86(11):5516-24.

PMID:
11701730
50.

[Massive hemoptysis during sarcoidosis].

Cabrol S, Morel H, Qanadli S, Delaisement-Pol C, Labrune S, Bisson A, Huchon G, Chinet T.

Rev Mal Respir. 2000 Dec;17(6):1111-3. French.

PMID:
11217510

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