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Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families.
Rouen A, Rogers E, Kerlan V, Delemer B, Catteau-Jonard S, Reznik Y, Gompel A, Cedrin I, Guedj AM, Grouthier V, Brue T, Pienkowski C, Bachelot A, Chantot-Bastaraud S, Rousseau A, Simon T, Kott E, Siffroi JP, Touraine P, Christin-Maitre S. Rouen A, et al. Among authors: pienkowski c. Fertil Steril. 2022 Apr;117(4):843-853. doi: 10.1016/j.fertnstert.2021.12.023. Epub 2022 Jan 31. Fertil Steril. 2022. PMID: 35115167 Free article.
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Christin-Maitre S, Givony M, Albarel F, Bachelot A, Bidet M, Blanc JV, Bouvattier C, Brac de la Perrière A, Catteau-Jonard S, Chevalier N, Carel JC, Coutant R, Donadille B, Duranteau L, El-Khattabi L, Hugon-Rodin J, Houang M, Grynberg M, Kerlan V, Leger J, Misrahi M, Pienkowski C, Plu-Bureau G, Polak M, Reynaud R, Siffroi JP, Sonigo C, Touraine P, Zenaty D. Christin-Maitre S, et al. Among authors: pienkowski c. Ann Endocrinol (Paris). 2021 Dec;82(6):555-571. doi: 10.1016/j.ando.2021.09.001. Epub 2021 Sep 8. Ann Endocrinol (Paris). 2021. PMID: 34508691
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, Heinrich C, Dacou-Voutetakis C, Joseph MG, Guedj AM, Journel H, Hecart-Bruna AC, Khotchali I, Ten S, Bouchard P, Paris F, Sultan C. Philibert P, et al. Among authors: pienkowski c. Fertil Steril. 2010 Jul;94(2):472-6. doi: 10.1016/j.fertnstert.2009.03.057. Epub 2009 May 21. Fertil Steril. 2010. PMID: 19463997 Free article.
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J. Fiot E, et al. Among authors: pienkowski c. Orphanet J Rare Dis. 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. Orphanet J Rare Dis. 2022. PMID: 35821070 Free PMC article.
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?
Kalfa N, Ecochard A, Patte C, Duvillard P, Audran F, Pienkowski C, Thibaud E, Brauner R, Lecointre C, Plantaz D, Guedj AM, Paris F, Baldet P, Lumbroso S, Sultan C. Kalfa N, et al. Among authors: pienkowski c. J Clin Endocrinol Metab. 2006 May;91(5):1842-7. doi: 10.1210/jc.2005-2710. Epub 2006 Feb 28. J Clin Endocrinol Metab. 2006. PMID: 16507630
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. Among authors: pienkowski c. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920
Pregnancy outcome in Turner syndrome: A French multi-center study after the 2009 guidelines.
Cadoret F, Parinaud J, Bettiol C, Pienkowski C, Letur H, Ohl J, Sentilhes L, Papaxanthos A, Winer N, Mathieu d'Argent E, Catteau-Jonard S, Chauleur C, Biquard F, Hieronimus S, Pimentel C, Le Lous M, Fontaine N, Chevreau J, Parant O. Cadoret F, et al. Among authors: pienkowski c. Eur J Obstet Gynecol Reprod Biol. 2018 Oct;229:20-25. doi: 10.1016/j.ejogrb.2018.08.005. Epub 2018 Aug 3. Eur J Obstet Gynecol Reprod Biol. 2018. PMID: 30096465
A nationwide study of granulosa cell tumors in pre- and postpubertal girls: missed diagnosis of endocrine manifestations worsens prognosis.
Kalfa N, Patte C, Orbach D, Lecointre C, Pienkowski C, Philippe F, Thibault E, Plantaz D, Brauner R, Rubie H, Guedj AM, Ecochard A, Paris F, Jeandel C, Baldet P, Sultan C. Kalfa N, et al. Among authors: pienkowski c. J Pediatr Endocrinol Metab. 2005 Jan;18(1):25-31. doi: 10.1515/jpem.2005.18.1.25. J Pediatr Endocrinol Metab. 2005. PMID: 15679066
Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome).
Philibert P, Biason-Lauber A, Gueorguieva I, Stuckens C, Pienkowski C, Lebon-Labich B, Paris F, Sultan C. Philibert P, et al. Among authors: pienkowski c. Fertil Steril. 2011 Jun 30;95(8):2683-6. doi: 10.1016/j.fertnstert.2011.01.152. Epub 2011 Mar 5. Fertil Steril. 2011. PMID: 21377155 Free article.
111 results