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Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
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- Movement Disorders, 2013, v. 28, n. 14, p. 2019, doi. 10.1002/mds.25634
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- Publication type:
- Article
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
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- Human Genetics, 2008, v. 123, n. 3, p. 237, doi. 10.1007/s00439-008-0467-y
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- Publication type:
- Article
Opinion: Genetic links between brain development and brain evolution.
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- Nature Reviews Genetics, 2005, v. 6, n. 7, p. 581, doi. 10.1038/nrg1634
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- Article
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
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- Human Molecular Genetics, 2010, v. 19, n. 14, p. 2817, doi. 10.1093/hmg/ddq182
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- Publication type:
- Article
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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- Human Molecular Genetics, 2008, v. 17, n. 22, p. 3446, doi. 10.1093/hmg/ddn238
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- Article
Recurrent 16p11.2 microdeletions in autism.
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- Human Molecular Genetics, 2008, v. 17, n. 4, p. 628
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- Publication type:
- Article
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
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- Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 6, p. 359, doi. 10.1002/aur.107
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- Publication type:
- Article
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
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- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 587, doi. 10.1038/ejhg.2013.196
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- Publication type:
- Article
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 363, doi. 10.1038/ejhg.2013.135
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- Article
Isolated Lissencephaly: Report of Four Patients From Two Unrelated Families.
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- Journal of Child Neurology, 1990, v. 5, n. 1, p. 52, doi. 10.1177/088307389000500113
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- Article
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
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- 2022
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- Publication type:
- journal article
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 10, p. 1010, doi. 10.1002/pd.4178
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- Publication type:
- Article
Genetic Basis of Brain Malformations.
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- Molecular Syndromology, 2016, v. 7, n. 4, p. 220, doi. 10.1159/000448639
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- Publication type:
- Article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121
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- Publication type:
- Article
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1216, doi. 10.1038/ejhg.2010.96
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- Publication type:
- Article
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
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- European Journal of Human Genetics, 2009, v. 17, n. 7, p. 911, doi. 10.1038/ejhg.2008.213
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- Publication type:
- Article
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
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- European Journal of Human Genetics, 2003, v. 11, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200995
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- Publication type:
- Article
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
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- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 5, doi. 10.1038/sj.ejhg.5200548
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- Publication type:
- Article
Familial cavernous malformations of the central nervous system and retina.
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- Annals of Neurology, 1987, v. 21, n. 6, p. 578, doi. 10.1002/ana.410210609
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- Publication type:
- Article
Unsuccessful physostigmine therapy in Reye syndrome.
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- Annals of Neurology, 1979, v. 6, n. 2, p. 141, doi. 10.1002/ana.410060218
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- Publication type:
- Article
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1260, doi. 10.1038/ng.2425
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- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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- Publication type:
- Article
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
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- Nature Genetics, 2010, v. 42, n. 11, p. 1010, doi. 10.1038/ng.682
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- Publication type:
- Article
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1015, doi. 10.1038/ng.683
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- Publication type:
- Article
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1037, doi. 10.1038/ng.422
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- Publication type:
- Article
Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
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- 2008
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- Correction notice
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1065, doi. 10.1038/ng.194
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- Publication type:
- Article
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
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- Nature Genetics, 2004, v. 36, n. 10, p. 1053, doi. 10.1038/ng1420
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- Publication type:
- Article
Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
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- Neurosurgical Focus, 2016, v. 41, n. 5, p. 1, doi. 10.3171/2016.8.FOCUS16241
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- Publication type:
- Article
Both Rare and <i>De Novo</i> Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria.
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- PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003823
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- Article
COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans.
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- PLoS Genetics, 2011, v. 7, n. 5, p. 1, doi. 10.1371/journal.pgen.1002062
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- Publication type:
- Article
ISDN2014_0157: Modeling human PIK3CA‐related congenital brain overgrowth and epilepsy in mice.
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- International Journal of Developmental Neuroscience, 2015, v. 47, p. 46, doi. 10.1016/j.ijdevneu.2015.04.131
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- Publication type:
- Article
Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity.
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- Obesity (19307381), 2015, v. 23, n. 6, p. 1226, doi. 10.1002/oby.21067
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- Article
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
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- eLife, 2017, p. 1, doi. 10.7554/eLife.20898
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- Publication type:
- Article
Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.
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- eLife, 2015, p. 1, doi. 10.7554/eLife.12703
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- Publication type:
- Article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06602
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- Article
Flores hominid: New species or microcephalic dwarf?
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- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2006, v. 288A, n. 11, p. 1123, doi. 10.1002/ar.a.20389
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- Article
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 509, doi. 10.1002/ajmg.c.31746
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- Article
Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 582, doi. 10.1002/ajmg.c.31736
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- Article
An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 414, doi. 10.1002/ajmg.c.31667
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- Publication type:
- Article
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 432, doi. 10.1002/ajmg.c.31666
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- Publication type:
- Article
Megalencephaly Syndromes and Activating Mutations in the PI3K‐AKT Pathway: MPPH and MCAP.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 122, doi. 10.1002/ajmg.c.31361
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- Publication type:
- Article
Lissencephaly.
- Published in:
- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 23, p. 2838, doi. 10.1001/jama.1993.03510230076039
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- Publication type:
- Article
66 A Recurrent Pattern of Posterior Vermis-Predominant Cerebellar Hypoplasia (Not Dandy-Walker) Occurring with Psychosis-Schizophrenia.
- Published in:
- 2023
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- Publication type:
- Abstract
Association and Mutation Analyses of 16p11.2 Autism Candidate Genes.
- Published in:
- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004582
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- Publication type:
- Article
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 359, doi. 10.1038/ng1009
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- Publication type:
- Article
Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
- Published in:
- 2014
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- Publication type:
- journal article
PRKDC mutations in a SCID patient with profound neurological abnormalities.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 2969, doi. 10.1172/JCI67349
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- Article
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
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- 2010
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- Publication type:
- journal article
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 269, doi. 10.1002/ajmg.a.34402
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- Publication type:
- Article