Results 281 to 290 of about 1,156,192 (336)

Adrenal Crisis in a Patient with Autoimmune Polyglandular Syndrome 2 (APS 2) During Pregnancy. [PDF]

J Obstet Gynaecol India
Balachandran DM, Durairaj J, Sagili H, Bammigatti C, Venkatesh YS.   +4 more
europepmc   +1 more source

Differences in Clinical Presentation Between Pheochromocytomas and Paragangliomas

Clinical Endocrinology, EarlyView.
ABSTRACT Objectives Pheochromocytomas and sympathetic paragangliomas (PPGLs) are similar in most aspects. However, they differ in genetic etiology, hormonal secretion, and associated neoplasms. This study aimed to investigate differences in clinical presentation between PPGLs. Design This study employs a retrospective cohort design. Patients The cohort
Vincent E. D. Pihlblad, Jan Calissendorff, Henrik Falhammar   +2 more
wiley   +1 more source

Significance of the Adrenals and the Testes for the Production of Testosterone (T) and Androstenedione (A) during Male Infancy [PDF]

, 1985
Bidlingmaier, Frank, Dorr, H. G., Eisenmenger, Wolfgang, Knorr, D., Kuhnle, U.   +4 more
core  

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Adrenal Crisis: From Perioperative Clinic to Diagnosis

Ahmet Gültekin, Köksal Öner, İlker Yıldırım, Cavidan Arar, Selami Gürkan   +4 more
openalex   +1 more source

Nutritional Deficiencies Following Bariatric Surgery: A Rapid Systematic Review of Case Reports of Vitamin and Micronutrient Deficiencies Presenting More Than Two Years Post‐Surgery

Clinical Obesity, EarlyView.
ABSTRACT Bariatric surgery is the most clinically‐ and cost‐effective intervention for severe obesity. However, without adequate follow‐up, it can lead to nutritional deficiencies. Patients require life‐long nutritional supplements and follow‐up to prevent nutritional deficiencies from developing.
Sophie Haughton, Sarah Gentry, Helen M. Parretti   +2 more
wiley   +1 more source