Item Type | Name |
Concept
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Infant, Newborn
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Concept
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Infant, Premature
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Concept
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Infant
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Academic Article
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Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
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Academic Article
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Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
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Academic Article
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
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Academic Article
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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
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Academic Article
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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Academic Article
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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
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Academic Article
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Phenotypic spectrum associated with CASK loss-of-function mutations.
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Academic Article
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Polyalanine expansion of ARX associated with cryptogenic West syndrome.
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Academic Article
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
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Academic Article
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CDKL5 and ARX mutations in males with early-onset epilepsy.
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Academic Article
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
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Academic Article
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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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Academic Article
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Further comments on the lissencephaly syndromes.
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Academic Article
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Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
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Academic Article
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Clinical and molecular diagnosis of Miller-Dieker syndrome.
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Academic Article
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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
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Academic Article
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
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Academic Article
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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
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Academic Article
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Benign hereditary chorea.
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Academic Article
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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
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Academic Article
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
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Academic Article
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
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Academic Article
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Classical lissencephaly syndromes: does the face reflect the brain?
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Academic Article
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Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
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Academic Article
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Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
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Academic Article
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
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Academic Article
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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Academic Article
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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
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Academic Article
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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
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Academic Article
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Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
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Academic Article
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Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
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Academic Article
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Clinical manifestations and evaluation of isolated lissencephaly.
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Academic Article
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
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Academic Article
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Ultra-high-field MR imaging in polymicrogyria and epilepsy.
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Academic Article
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Genetic and biologic classification of infantile spasms.
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Academic Article
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Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
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Academic Article
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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
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Academic Article
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Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
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Academic Article
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
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Academic Article
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
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Academic Article
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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
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Academic Article
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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
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Academic Article
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A classification scheme for malformations of cortical development.
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Academic Article
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
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Academic Article
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
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Academic Article
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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
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Academic Article
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Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
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Academic Article
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X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
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Academic Article
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Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.
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Academic Article
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Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
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Academic Article
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Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
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Academic Article
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Causal heterogeneity in isolated lissencephaly.
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Academic Article
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Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
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Academic Article
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Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
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Academic Article
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Congenital muscular dystrophies: clinical review and proposed classification.
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Academic Article
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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
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Academic Article
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Periventricular nodular heterotopia with overlying polymicrogyria.
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Academic Article
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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
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Academic Article
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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
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Academic Article
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Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
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Academic Article
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
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Academic Article
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Plasmapheresis with acute inflammatory polyneuropathy.
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Academic Article
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
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Academic Article
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X-linked malformations of neuronal migration.
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Academic Article
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Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
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Academic Article
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
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Academic Article
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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
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Academic Article
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
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Academic Article
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
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Academic Article
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Genotypically defined lissencephalies show distinct pathologies.
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Academic Article
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Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
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Academic Article
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Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
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Academic Article
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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Academic Article
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Miller-Dieker syndrome: lissencephaly and monosomy 17p.
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Academic Article
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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
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Academic Article
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Brain anomalies in encephalocraniocutaneous lipomatosis.
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Academic Article
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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
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Academic Article
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Lissencephaly and other malformations of cortical development: 1995 update.
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Academic Article
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
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Academic Article
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Toriello-Carey syndrome: delineation and review.
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Academic Article
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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
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Academic Article
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LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
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Academic Article
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
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Academic Article
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Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
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Academic Article
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
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Academic Article
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Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
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Academic Article
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
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Academic Article
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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
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Academic Article
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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
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Academic Article
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Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
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Academic Article
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Copy number variation analysis in 98 individuals with PHACE syndrome.
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Academic Article
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No major role for the EMX2 gene in schizencephaly.
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Academic Article
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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Academic Article
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Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
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Academic Article
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The microcephaly-capillary malformation syndrome.
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Academic Article
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
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Academic Article
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Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine.
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Academic Article
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Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
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Academic Article
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Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
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Academic Article
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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
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Academic Article
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Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
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Academic Article
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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
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Academic Article
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Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.
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Academic Article
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
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Academic Article
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Epilepsy and outcome in FOXG1-related disorders.
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Academic Article
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Microlissencephaly: a heterogeneous malformation of cortical development.
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Academic Article
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Infantile hydrocephalus: a review of epidemiology, classification and causes.
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Academic Article
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
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Academic Article
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High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
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Academic Article
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MICRO syndrome: an entity distinct from COFS syndrome.
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Academic Article
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Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
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Academic Article
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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
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Academic Article
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
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Academic Article
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De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
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Academic Article
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
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Academic Article
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Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
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Academic Article
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Isolated lissencephaly: report of four patients from two unrelated families.
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Academic Article
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Diagnostic criteria for Walker-Warburg syndrome.
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Academic Article
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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Academic Article
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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Academic Article
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
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Academic Article
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Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)
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Academic Article
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Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
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Academic Article
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A novel SIX3 mutation segregates with holoprosencephaly in a large family.
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Academic Article
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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Academic Article
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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
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Academic Article
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
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Academic Article
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
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Academic Article
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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
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Academic Article
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
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Academic Article
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
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Academic Article
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
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Academic Article
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Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
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Academic Article
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
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Academic Article
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Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
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Academic Article
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
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Academic Article
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Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
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Academic Article
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Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
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Academic Article
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Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
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Academic Article
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
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Academic Article
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Lissencephaly: Expanded imaging and clinical classification.
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Academic Article
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Early-Life Epilepsies and the Emerging Role of Genetic Testing.
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Academic Article
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Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.
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Academic Article
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
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Academic Article
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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
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Academic Article
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
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Academic Article
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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
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Academic Article
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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Academic Article
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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.
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Academic Article
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SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
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Academic Article
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Duplication 2p16 is associated with perisylvian polymicrogyria.
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Academic Article
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
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Academic Article
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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Academic Article
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Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
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Academic Article
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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
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Academic Article
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Genotype-phenotype correlation at codon 1740 of SETD2.
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Academic Article
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Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
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Academic Article
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The spectrum of brain malformations and disruptions in twins.
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Academic Article
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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Academic Article
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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
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