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

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review

轻度孤立性高促甲状腺激素血症的变异谱:初步队列研究和系统评价

Ricci, Valentina; Masnata, María E; Villanueva Gonzalez, María D; Enacán, Rosa E; Izquierdo, Agustín; Adrover, Ezequiela; Esnaola Azcoiti, María; Sansó, Gabriela; Scaglia, Paula A; Rivolta, Carina M; Targovnik, Héctor M; Rey, Rodolfo A; Ropelato, María G; Chiesa, Ana E; Nicola, Juan P; Tellechea, Mariana L

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

色素失禁症是胸腺发育不良、I型干扰素自身抗体和病毒性疾病的病因。

Jérémie Rosain ,Tom Le Voyer # ,Xian Liu # ,Adrian Gervais # ,Laura Polivka # ,Axel Cederholm # ,Laureline Berteloot # ,Audrey V Parent # ,Alessandra Pescatore # ,Ezia Spinosa # ,Snezana Minic # ,Ana Elisa Kiszewski # ,Miyuki Tsumura # ,Chloé Thibault # ,Maria Esnaola Azcoiti # ,Jelena Martinovic # ,Quentin Philippot # ,Taushif Khan # ,Astrid Marchal # ,Bénédicte Charmeteau-De Muylder # ,Lucy Bizien # ,Caroline Deswarte # ,Lillia Hadjem ,Marie-Odile Fauvarque ,Karim Dorgham ,Daniel Eriksson ,Emilia Liana Falcone ,Mathilde Puel ,Sinem Ünal ,Amyrath Geraldo ,Corentin Le Floc'h ,Hailun Li ,Sylvie Rheault ,Christine Muti ,Claire Bobrie-Moyrand ,Anne Welfringer-Morin ,Ramsay L Fuleihan ,Romain Lévy ,Marie Roelens ,Liwei Gao ,Marie Materna ,Silvia Pellegrini ,Lorenzo Piemonti ,Emilie Catherinot ,Jean-Christophe Goffard ,Arnaud Fekkar ,Aissata Sacko-Sow ,Camille Soudée ,Soraya Boucherit ,Anna-Lena Neehus ,Cristina Has ,Stefanie Hübner ,Géraldine Blanchard-Rohner ,Blanca Amador-Borrero ,Takanori Utsumi ,Maki Taniguchi ,Hiroo Tani ,Kazushi Izawa ,Takahiro Yasumi ,Sotaro Kanai ,Mélanie Migaud ,Mélodie Aubart ,Nathalie Lambert ,Guy Gorochov ,Capucine Picard ,Claire Soudais ,Anne-Sophie L'Honneur ,Flore Rozenberg ,Joshua D Milner ,Shen-Ying Zhang ,Pierre Vabres ,Dusan Trpinac ,Nico Marr ,Nathalie Boddaert ,Isabelle Desguerre ,Manolis Pasparakis ,Corey N Miller ,Cláudia S Poziomczyk ,Laurent Abel ,Satoshi Okada ,Emmanuelle Jouanguy ,Rémi Cheynier ,Qian Zhang ,Aurélie Cobat ,Vivien Béziat ,Bertrand Boisson ,Julie Steffann ,Francesca Fusco ,Matilde Valeria Ursini ,Smail Hadj-Rabia ,Christine Bodemer ,Jacinta Bustamante ,Hervé Luche ,Anne Puel # ,Gilles Courtois # ,Paul Bastard # ,Nils Landegren # ,Mark S Anderson # ,Jean-Laurent Casanova #

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome

病例报告:一种新的SIN3A功能缺失变异是Witteveen-Kolk综合征中低促性腺激素性性腺功能减退症的致病因素

Correa Brito, Lourdes; Keselman, Ana; Villegas, Florencia; Scaglia, Paula; Esnaola Azcoiti, María; Castro, Sebastián; Sanguineti, Nora; Izquierdo, Agustín; Maier, Marianela; Bergadá, Ignacio; Arberas, Claudia; Rey, Rodolfo A; Ropelato, María Gabriela

Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing Loss

ACTG1相关疾病在听力损失中的表型变异性极大

Bernardi, Maria T; Ramzan, Memoona; Calderon, Laura; Salvatore, Franco; De Rosa, Maria Agustina; Bivona, Stephanie; Armando, Romina; Vazquez, Natalia; Azcoiti, Maria Esnaola; Marti, Marcelo A; Arberas, Claudia; Ropelato, Maria Gabriela; Olha, Silvina; Lam, Byron L; Telischi, Fred F; Tekin, Mustafa; Walz, Katherina

Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development

通过新一代测序技术鉴定出髓鞘调节生长因子中的一种新变异,从而在一名患有46,XY性发育异常的患者中发现了一种临床上不明显的先天性心脏缺陷。

Correa Brito, Lourdes; Grinspon, Romina P; Lopez Dacal, Jimena; Scaglia, Paula; Esnaola Azcoiti, María; Izquierdo, Agustín; Ropelato, María Gabriela; Rey, Rodolfo A

THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome

THU211 新型 SIN3A 功能缺失变异体可能是 Witteveen-Kolk 综合征中低促性腺激素性性腺功能减退症的致病因素

Beltrán, Juan F; Rodríguez-Rodríguez, Eduardo J; Batista, Rafael Loch; Ramos, Raquel M; Afonso, Ana Caroline F; Petroli, Reginaldo J; Nishi, Mirian Yumie; Martins Ferrari, Maria Tereza; Domenice, Sorahia; Mendonca, Berenice Bilharinho; Correa Brito, Lourdes Magdalena; Keselman, Ana Claudia; Sanguineti, Nora Maria; Scaglia, Paula Alejandra; Azcoiti, María Esnaola; Villegas, Florencia; Maier, Marianela; Bergada, Ignacio; Ropelato, Maria Gabriela; Rey, Rodolfo A

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

WDR11 N端结构域截断导致青春期延迟,进而引发轻度纤毛病,并伴有分离性中枢性性腺功能减退:病例报告

Castro, Sebastián; Brunello, Franco G; Sansó, Gabriela; Scaglia, Paula; Esnaola Azcoiti, María; Izquierdo, Agustín; Villegas, Florencia; Bergadá, Ignacio; Ropelato, María Gabriela; Martí, Marcelo A; Rey, Rodolfo A; Grinspon, Romina P

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

与新生生殖系激活STAT3突变相关的部分生长激素不敏感和免疫失调疾病

Gutiérrez, Mariana; Scaglia, Paula; Keselman, Ana; Martucci, Lucía; Karabatas, Liliana; Domené, Sabina; Martin, Ayelen; Pennisi, Patricia; Blanco, Miguel; Sanguineti, Nora; Bezrodnik, Liliana; Di Giovanni, Daniela; Caldirola, María Soledad; Azcoiti, María Esnaola; Gaillard, María Isabel; Denson, Lee A; Zhang, Kejian; Husami, Ammar; Yayah Jones, Nana-Hawa; Hwa, Vivian; Revale, Santiago; Vázquez, Martín; Jasper, Héctor; Kumar, Ashish; Domené, Horacio