Second trimester fetal MRI of the brain: Through the ground glass
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Clinical Ultrasound"
DOI: 10.1002/jcu.23423
Abstract: Fetal MRI is an important tool for the prenatal diagnosis of brain malformations and is often requested after second‐trimester ultrasonography reveals a possible abnormality. Despite the immature state of the fetal brain at this early… read more here.
Keywords: trimester fetal; brain malformations; fetal mri; brain ... See more keywords
Diagnostic assessment of foetal brain malformations with intra-uterine MRI versus perinatal post-mortem MRI
Sign Up to like & getrecommendations! Published in 2019 at "Neuroradiology"
DOI: 10.1007/s00234-019-02218-9
Abstract: PurposeTo evaluate differences in diagnostic yield of intra-uterine foetal (iuMR) and post-mortem MRI (PMMR) for complex brain malformations, using autopsy as the reference standard.MethodsIn this retrospective, multicentre study spanning 2 years, we reviewed 13 terminated singleton… read more here.
Keywords: brain malformations; pmmr; post mortem; mortem mri ... See more keywords
Defining the phenotypical spectrum associated with variants in TUBB2A
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106740
Abstract: Background Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of… read more here.
Keywords: brain malformations; phenotypical spectrum; variants tubb2a; spectrum ... See more keywords
Impact of Brain Malformations on Neurodevelopmental Outcome in Children with a History of Prenatal Surgery for Open Spina Bifida.
Sign Up to like & getrecommendations! Published in 2021 at "Fetal diagnosis and therapy"
DOI: 10.1159/000517972
Abstract: INTRODUCTION This retrospective study investigates brain malformations and their impact on neurodevelopmental outcome in children after prenatal surgery for spina bifida (SB). METHODS Sixty-one patients were included. On neonatal MRI, SB-associated brain malformations were assessed.… read more here.
Keywords: prenatal surgery; neurodevelopmental outcome; brain malformations; brain ... See more keywords
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Child Neurology"
DOI: 10.1177/0883073820960314
Abstract: Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modulator 2) gene, is characterized by early-onset sensorineural deafness and a typical combination of brain malformations, including ventriculomegaly, (partial)… read more here.
Keywords: deafness typical; brain malformations; syndrome recognizable; chudley mccullough ... See more keywords
Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.765992
Abstract: Mutations in the family of genes encoding the tubulin subunits of microtubules are associated with a spectrum of human brain malformations known as tubulinopathies. How these mutations impact tubulin activity to give rise to distinct… read more here.
Keywords: brain malformations; tubulin; kinetically stabilizing; brain ... See more keywords