Results 61 to 70 of about 108,266 (269)
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
DOUBLE RIGHT ATRIUM OR CORTRIATRIUM DEXTRUM A RARE ENTITY:A CASE REPORT
Journal of University Medical & Dental College, 2016 : Cortriatrium dextrum is an extremely rare congenital anomaly .Mostly the anomaly is diagnosed on autopsy as an isolated finding or associated with some other congenital disorder. We report a case of young female presented with palpitation and a systolic
Muhammad Furrakh Maqbool +1 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom +5 more
wiley +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
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 +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 +13 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala +6 more
wiley +1 more source
Risk factors for hospitalisation in Welsh infants with a congenital anomaly
BMJ Paediatrics Open, 2022 Jennifer J Kurinczuk +3 more
doaj +1 more source
Congenital dislocation of radial head (A case report)
مجله دانشگاه علوم پزشکی گرگان, 2007 Congenital dislocation of radial head without any abnormality is rare,and commonly reveals with anomalies in another organs.it can be appearance in one side or two side be cause of late manifestations,diagnosis of congenital dislocation of radial head is
Satleghi HM, Ahang U
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