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
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
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DOI: 10.1111/cge.70043
Abstract: Deleterious variants in COL4A2, encoding type IV collagen's alpha‐2 chain, cause heterogeneous cerebrovascular and developmental brain malformations. While many dominant variants are known, biallelic changes are rarely reported. We reported two severe cases: Case #1,… read more here.
Keywords: col4a2; brain malformations; brain; brain small ... 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
Hereditary pontine and extrapontine brain malformations in Brazilian Tabapuã cattle
Sign Up to like & getrecommendations! Published in 2024 at "Veterinary Pathology"
DOI: 10.1177/03009858241300552
Abstract: A congenital neurologic disorder affected a herd of Tabapuã cattle. Of 98 newborn calves, 12 (12%) were affected; they were sired by 3 related bulls. This frequency suggested a genetic disorder caused by an autosomal… read more here.
Keywords: brain malformations; pontine extrapontine; brain; extrapontine 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