Results 141 to 150 of about 697,673 (264)
Transient congenital hypothyroidism [PDF]
Archives of Disease in Childhood, 1987 openaire +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2036-2045, October 2026.ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source
The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases
Arthritis Care &Research, Volume 78, Issue 10, Page 1449-1466, October 2026.Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci +25 more
wiley +1 more source
مجله دانشکده پزشکی اصفهان, 2011 Background: Considering the role of maternal TSH receptor blocking Ab (TRAb) in the etioligy of congenital hypothyroidism, the aim of this research was to determine its role among congenital hypothyroidism (CH) in Isfahan.
Shima Salehi Abari +6 more
doaj
Transient primary hypothyroidism in the newborn
, 1983 info:eu-repo/semantics ...
Delange, François +5 more
openaire +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Early Transient Hypothyroidism Is Associated With Long-Term Outcomes of 131I Treatment in Graves' Disease: A Retrospective Cohort Study. [PDF]
Clin Endocrinol (Oxf)Yin P +7 more
europepmc +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Alzheimer's &Dementia, Volume 22, Issue 10, October 2026.Abstract INTRODUCTION We examined whether comorbidities and health‐care use differ between individuals later diagnosed with early‐onset Alzheimer's disease (EOAD) and matched controls during the 15 years preceding diagnosis. METHODS This population‐based case–control study included 407 EOAD patients diagnosed at two Finnish university hospitals (2010 ...
Laura Leppänen +13 more
wiley +1 more source