日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series

PDE11A是原发性双侧肾上腺大结节性增生的表型调节因子:一项334例患者系列研究的结果

Vaduva, Patricia; Bouys, Lucas; Jouinot, Anne; Espiard, Stephanie; Chansavang, Albain; Berthon, Annabel; Néou, Mario; Vaczlavik, Anna; Violon, Florian; Charchar, Helaine; Kroiss, Matthias; Raverot, Gerald; Lasolle, Helene; Guignat, Laurence; Libé, Rossella; Assié, Guillaume; Tabarin, Antoine; Kamenicky, Peter; Pasmant, Eric; Fragoso, Maria; Stratakis, Constantine; Ragazzon, Bruno; Bertherat, Jérôme

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype

根据表型分析早发性结直肠癌患者的致病性种系变异

Dardenne, Antoine; Dhooge, Marion; Basset, Noémie; Chansavang, Albain; Metras, Julie; Farelly, Solenne; Netter, Jeanne; Coulet, Florence; Benusiglio, Patrick R

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

原发性双侧肾上腺大结节性增生症中ARMC5基因的突变图谱:最新进展

Bouys, Lucas; Vaczlavik, Anna; Cavalcante, Isadora P; Violon, Florian; Jouinot, Anne; Berthon, Annabel; Vaduva, Patricia; Espiard, Stéphanie; Perlemoine, Karine; Kamenicky, Peter; Vantyghem, Marie-Christine; Tabarin, Antoine; Raverot, Gérald; Ronchi, Cristina L; Dischinger, Ulrich; Reincke, Martin; Fragoso, Maria C; Stratakis, Constantine A; Chansavang, Albain; Pasmant, Eric; Ragazzon, Bruno; Bertherat, Jérôme

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

型神经纤维瘤病的产前诊断和生殖系嵌合体的陷阱

Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, 

Lynch syndrome: influence of additional susceptibility variants on cancer risk

林奇综合征:其他易感变异对癌症风险的影响

Vibert, Roseline; Hasnaoui, Jasmine; Perrier, Alexandre; Lefebvre, Alexandra; Colas, Chrystelle; Dhooge, Marion; Basset, Noémie; Chansavang, Albain; Desseignes, Camille; Duval, Alex; Farelly, Solenne; Hamzaoui, Nadim; Laurent-Puig, Pierre; Metras, Julie; Moliere, Diane; Muleris, Martine; Netter, Jeanne; Touat, Mehdi; Bielle, Franck; Labreche, Karim; Nicolle, Romain; Perkins, Géraldine; Warcoin, Mathilde; Coulet, Florence; Benusiglio, Patrick R

Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

关于NF1基因内倒位作为1型神经纤维瘤病致病机制的评论

Pacot, Laurence; Chansavang, Albain; Jacques, Sébastien; Laurendeau, Ingrid; Hadjadj, Djihad; Ferkal, Salah; Wolkenstein, Pierre; Vidaud, Dominique; Pasmant, Eric