Recommendations for prevention of iodine deficiency during pregnancy and breastfeeding in France [0.03%]
法国孕期和哺乳期碘缺乏病的预防建议
Philippe Caron,Athanasia Stoupa,Charles Mégier et al.
Philippe Caron et al.
Practice Guideline
Annales d'endocrinologie. 2026 May 29:102580. DOI:10.1016/j.ando.2026.102580 2026
Comment la génétique, la génomique et l'épigénétique ont déjà changé ou vont changer le diagnostic et la prise en charge des maladies endocriniennes ? [0.03%]
遗传学、基因组学和表观遗传学如何改变内分泌疾病的诊断和治疗？
Luca Persani,Sophie Christin-Maitre,Philippe Chanson et al.
Luca Persani et al.
How genetic/genomic/epigenetic changed or will change the diagnosis and management of endocrine disorders? [0.03%]
遗传/基因组/表观遗传学改变或将如何改变内分泌疾病的诊断和治疗？
Luca Persani,Sophie Christin-Maitre,Philippe Chanson et al.
Luca Persani et al.
Assessment of smoking status and management of smoking cessation in moderate to severe Graves' orbitopathy. A retrospective study of 78 patients [0.03%]
78例中重度Graves眼病患者戒烟状况评估及干预回顾性研究
Camille Collin,Pascal Perney,Luc Jeanjean et al.
Camille Collin et al.
Introduction: Graves' orbitopathy (GO) is a frequent extra-thyroidal manifestation of autoimmune dysthyroidism. Moderate-to-severe forms impair quality of life and visual prognosis. Smoking has been identified for some 30...
Sylvie Jaillard
Sylvie Jaillard
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...
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions [0.03%]
基因组新生儿筛查在罕见病管理中的范式转变，尤其是内分泌疾病的管理
Laurence Faivre,Camille Level,Régis Coutant et al.
Laurence Faivre et al.
Introduction: Genome sequencing (GS) is reshaping newborn screening (NBS) by enabling the early detection of a broader range of rare, treatable and/or actionable disorders. In the context of rapid therapeutic advances, in...
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...
May Fayad,Teresa Cosentino,Nicolo&#x; Faedda et al.
May Fayad et al.
Primary aldosteronism (PA) represents the leading cause of secondary hypertension, resulting from autonomous aldosterone production driven in the majority of cases by a lateralized aldosterone-producing adenoma or by bilateral adrenal hyper...
Genome architecture in endocrine diseases: X-Linked Acrogigantism (X-LAG) syndrome [0.03%]
内分泌疾病的基因组架构：X染色体连锁肢端肥大综合征(X-LAG)
Adrian F Daly,Albert Beckers,Patrick Pétrossians
Adrian F Daly
X-linked acrogigantism (X-LAG) is a rare disease that represents a severe form of pituitary gigantism characterized by early-onset growth hormone (GH), insulin-like growth factor 1 (IGF1) and prolactin excess. X-LAG is associated with dupli...