Results 261 to 270 of about 889,444 (319)

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Persistence, chronicity, and recurrence of infection-associated urticaria following viral infections in children and adults: a systematic review. [PDF]

Front Allergy
Alhumaid S, Alshehri SM, Sabr Z, Aborshaid FA, Noorsaeed S, Alsaidalani AA, Banjar SS, Aljasem K, AlQahtani FA, Baltyour SA, Bu Subaih AJ, Alwesaibi AA, Alghanim AH, Al Alawi Z, Alsaadoun DS.   +14 more
europepmc   +1 more source

Clinical application of HMGB1-TLR4 signaling pathway-mediated neuroinflammatory markers in infantile epileptic spasms syndrome. [PDF]

Front Immunol
Chen H, Zhong J, Chen Y, Wu H, Wang R, Yi Z, Zeng X.   +6 more
europepmc   +1 more source

Etiology Model of Kawasaki Disease and Multisystem Inflammatory Syndromes: Mast Cell Activation. [PDF]

Curr Issues Mol Biol
Ricke DO.
europepmc   +1 more source

Urinary Podocalyxin-to-Creatinine Ratio as a Prognostic Biomarker of Renal Function Decline and Proteinuria Progression in Pediatric Chronic Kidney Disease. [PDF]

J Clin Med
Martinez-Rodriguez NL, Villasis-Keever MA, Alegría-Torres GA, Zurita-Cruz JN, Pérez DGI, Cruz-Ortega N, Luna-Sánchez RA, Martínez CDCZ, Chavelas AAS.   +8 more
europepmc   +1 more source