Integrating Genetic Counseling in Endocrine Practice: Prevention, Reproductive Care, and Prenatal Diagnosis [0.03%]
内分泌实践中的遗传咨询：预防、生殖护理和产前诊断
Barbara Girerd,Cristina Peduto,Anya Rothenbuhler et al.
Barbara Girerd et al.
Genetic counseling has become a cornerstone of care in inherited endocrine and metabolic disorders, complementing clinical evaluation with molecular diagnosis and personalized risk assessment. In endocrinology, although many conditions are ...
Anne Barlier,Jérôme Bouligand
Anne Barlier
The technical development of automated Sanger sequencing in the 2000s followed by next-generation sequencing (NGS) in the 2010s, has enabled significant advancements in the molecular diagnosis of inherited diseases. The launch of France's f...
Csilla Krausz,Chiara Abrardo,Judit Vargha et al.
Csilla Krausz et al.
The Y chromosome plays a crucial role in male fertility as it carries genes that are essential for testis development and spermatogenesis. The Yq gene content can be disrupted by microdeletions of AZoospermia Factor (AZF) regions, leading t...
Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: nine-year activity and performance analysis from the French public network [0.03%]
法国公共网络全境排除性非侵入产前基因检测九年实施及表现分析
Adrien Labarthe,Solène Doppler,Marie-Pierre Audrézet et al.
Adrien Labarthe et al.
Introduction: Non-invasive prenatal diagnosis for single-gene disorders (SGD-NIPD) has progressively emerged as a reliable alternative to invasive prenatal procedures in selected high-risk situations. In France, an exclus...
Imprinting disorders and multiple imprinting abnormalities (multilocus imprinting disturbances): new diagnoses, new perspectives [0.03%]
印迹障碍和多基因印迹异常（多基因印迹紊乱）：新的诊断，新的视角
Frédéric Brioude
Frédéric Brioude
Imprinting disorders result from (epi)genetic abnormalities affecting genomic regions whose expression depends on parental origin. Among these, multilocus imprinting disturbances (MLID) constitute a specific entity characterised by simultan...
Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort [0.03%]
McCune-Albright综合征的基因型与表型相关性及突变检测的挑战：法国病例队列的回顾性研究
Camille Giannetti,Karine Aouchiche,Arnaud Lagarde et al.
Camille Giannetti et al.
Background: McCune-Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic GNAS activating mutations. MAS is characterized by fibrous dysplasia (FD) of the skeleton, café-au-lait skin macules, and hyperfun...
Beatriz Tavares da Silva,Ana Rita Neves,Maria Teresa Pereira et al.
Beatriz Tavares da Silva et al.
Hypothalamic syndrome (HS) is a rare and severe complication of craniopharyngioma (CP). Diagnostic criteria have been reported for pediatric patients, but no validated criteria exist for adults, limiting clinical recognition and comparabili...
THE KEY DATA FROM THE 2025 ESE/ESPE CONGRESS: Chronic hypoparathyroidism in adults [0.03%]
2025年ESE/ESPE大会重点数据：成人慢性低甲状旁腺素血症
Geneviève Crouzeix,Philippe Caron
Geneviève Crouzeix
Glycemic Control in Critical Care Units: Moving Toward Individualized Targets [0.03%]
重症监护病房的血糖控制：向个体化目标迈进
Gaetan Prevost,Emmanuel Besnier,Antoine-Guy Lopez
Gaetan Prevost
Hyperglycemia is very common in critical care and is the focus of intense clinical research. To date, more than 24,000 patients have been enrolled in interventional randomized trials. The pioneering studies by the Louvain group reported rem...
Navigating the genetic labyrinth of familial non-medullary thyroid cancer: From whole-genome sequencing to AI-driven precision oncology [0.03%]
家族性非髓样甲状腺癌的遗传迷宫导航：从全基因组测序到人工智能驱动的精准肿瘤学
Wenjuan Sun,Kunpeng Yang,Bao Wang et al.
Wenjuan Sun et al.