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Page 1
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M. Heddar A, et al. Among authors: guedj am. EBioMedicine. 2022 Oct;84:104246. doi: 10.1016/j.ebiom.2022.104246. Epub 2022 Sep 10. EBioMedicine. 2022. PMID: 36099812 Free PMC article.
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: guedj am. 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.
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: guedj am. 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
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: guedj am. 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
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: guedj am. 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.
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P, Martinez-Barbera JP, Guiochon-Mantel A, Brue T. Reynaud R, et al. Among authors: guedj am. J Clin Endocrinol Metab. 2012 Jun;97(6):E1068-73. doi: 10.1210/jc.2011-3056. Epub 2012 Mar 30. J Clin Endocrinol Metab. 2012. PMID: 22466334
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.
Cuny T, Pertuit M, Sahnoun-Fathallah M, Daly A, Occhi G, Odou MF, Tabarin A, Nunes ML, Delemer B, Rohmer V, Desailloud R, Kerlan V, Chabre O, Sadoul JL, Cogne M, Caron P, Cortet-Rudelli C, Lienhardt A, Raingeard I, Guedj AM, Brue T, Beckers A, Weryha G, Enjalbert A, Barlier A. Cuny T, et al. Among authors: guedj am. Eur J Endocrinol. 2013 Mar 15;168(4):533-41. doi: 10.1530/EJE-12-0763. Print 2013 Apr. Eur J Endocrinol. 2013. PMID: 23321498 Free article.
The association between macrovascular complications and intensive care admission, invasive mechanical ventilation, and mortality in people with diabetes hospitalized for coronavirus disease-2019 (COVID-19).
Llauradó G, Vlacho B, Wargny M, Ruan Y, Franch-Nadal J, Domingo P, Gourdy P, Saulnier PJ, Hadjadj S, Wild SH, Rea R, Cariou B, Khunti K, Mauricio D; CORONADO, the ABCD COVID-19 diabetes national audit, HM Hospitales investigators and the Hospital del Mar - Hospital de la Santa Creu i Sant Pau Diabetes Research Group. Llauradó G, et al. Cardiovasc Diabetol. 2022 Oct 19;21(1):216. doi: 10.1186/s12933-022-01657-8. Cardiovasc Diabetol. 2022. PMID: 36261811 Free PMC article.
33 results