Results 141 to 150 of about 751,007 (236)

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican 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

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir   +6 more
wiley   +1 more source

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

open access: yesAmerican 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

Created Ex Nihilo: A Near‐Infrared Afterglow Luminescent Framework of Imidazole Derivatives for Bioimaging

open access: yesAngewandte Chemie, EarlyView.
A series of Ir(III) complexes (Ir‐1‐Ir‐4) based on imidazole derivatives provide a new afterglow luminescence mechanism. The work expands the range of afterglow luminescence frameworks to overcome: (i) a lack of new afterglow scaffolds; (ii) the dependence on initial external light activation; and (iii) aggregation‐caused quenching.
Zihan Wu   +9 more
wiley   +2 more sources

Evaluation of Facial Artery Musculomucosal Flap for Reconstruction of Small Tongue Defects. [PDF]

open access: yesIndian J Plast Surg
Kongara S   +9 more
europepmc   +1 more source

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