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Last Posted: Oct 07, 2024

• [Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].
  Yuqiong Chai, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 0 (10) 1255-1258
• Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
  Dolores Martínez-Rubio, et al. International journal of molecular sciences 2023 0 (22)
• Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.
  Liliana Igreja, et al. Pediatric neurology 2023 0 137-140
• KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.
  Andrea Querzani, et al. Italian journal of pediatrics 2023 0 (1) 99
• Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
  Hayashi Shin, et al. PloS one 2017 0 (8) e0181791
• A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.
  Ciaccio Claudia, et al. Neuropediatrics 2021 0 (6) 484-488
• Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.
  Bilge Serap, et al. Italian journal of pediatrics 2022 0 (1) 169
• Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
  Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10
• Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
  Rinaldi Berardo, et al. Neurogenetics 2021 11
• Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
  Arslan Elif Acar et al. Brain & development 2019 Sep
• Right-sided aortic arch in the age of microarray.
  O'Mahony Edward F, et al. Prenatal diagnosis 2017 2
• Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
  Sajan Samin A, et al. PLoS genetics 2013 0 (10) e1003823
• Cerebellar hypoplasia
  From NCATS Genetic and Rare Diseases Information Center
• Cerebellar hypoplasia tapetoretinal degeneration
  From NCATS Genetic and Rare Diseases Information Center
• Cerebellar hypoplasia with endosteal sclerosis
  From NCATS Genetic and Rare Diseases Information Center
• Cerebral calcification cerebellar hypoplasia
  From NCATS Genetic and Rare Diseases Information Center
• Porencephaly cerebellar hypoplasia internal malformations
  From NCATS Genetic and Rare Diseases Information Center
• Thrombocytopenia cerebellar hypoplasia short stature
  From NCATS Genetic and Rare Diseases Information Center
• Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.
  Rubio-Cabezas Oscar, et al. Diabetes 2010 9 (9) 2326-31
• Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
  Morris-Rosendahl D J, et al. Clinical genetics 2008 11 (5) 425-33
• POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
  Messina S, et al. Neuromuscular disorders : NMD 2008 7 (7) 565-71
• Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
  Zanni G, et al. Neurology 2005 11 (9) 1364-9