Results 211 to 220 of about 461,280 (380)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino   +8 more
wiley   +1 more source

Polycomb repressive complexes 1 and 2 independently and dynamically regulate euchromatin during cerebellar neurodevelopment. [PDF]

open access: yesPLoS Genet
Parmar A   +18 more
europepmc   +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno   +19 more
wiley   +1 more source

Validation of phiC31-mediated expression and functional knockout of Opn3 in the Opn3-phiC31o knock-in mouse. [PDF]

open access: yesEye Vis (Lond)
Kwok RKY   +10 more
europepmc   +1 more source

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