Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 166, Issue 2, Pages 211-226
Publisher
Wiley
Online
2014-05-17
DOI
10.1002/ajmg.c.31398
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
- (2014) Hudson H. Freeze et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Syndrome of Infantile-Onset Saccade Initiation Delay
- (2014) Michael S. Salman et al. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
- Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia
- (2014) Matthan W.A. Caan et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum
- (2014) Eman Alqahtani et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Diagnostic approach to the congenital muscular dystrophies
- (2014) Carsten G. Bönnemann et al. NEUROMUSCULAR DISORDERS
- WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
- (2013) Shawna M. Pyott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
- (2013) Jan Halbritter et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
- (2013) Karina Tuz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Elements of morphology: General terms for congenital anomalies
- (2013) Raoul C. Hennekam et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
- (2013) Thomas D. Cushion et al. BRAIN
- Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?
- (2013) Andrea Poretti et al. CEREBELLUM
- Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations
- (2013) Fiorenza Ulgiati et al. EUROPEAN JOURNAL OF PEDIATRICS
- Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
- (2013) Sarah L. Sawyer et al. HUMAN MUTATION
- Mutations in Extracellular Matrix GenesNID1andLAMC1Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles
- (2013) Benjamin W. Darbro et al. HUMAN MUTATION
- A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
- (2013) Sophie Thomas et al. HUMAN MUTATION
- Susceptibility-weighted imaging in pediatric neuroimaging
- (2013) Thangamadhan Bosemani et al. JOURNAL OF MAGNETIC RESONANCE IMAGING
- A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort
- (2013) Alison M Elliott et al. JOURNAL OF MEDICAL GENETICS
- Joubert syndrome: congenital cerebellar ataxia with the molar tooth
- (2013) Marta Romani et al. LANCET NEUROLOGY
- Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics
- (2013) Dan Doherty et al. LANCET NEUROLOGY
- Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis
- (2013) Hannah M. Tully et al. MOVEMENT DISORDERS
- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- (2013) Christine M. Laine et al. NEW ENGLAND JOURNAL OF MEDICINE
- Diffusion tensor imaging and fiber tractography in brain malformations
- (2013) Andrea Poretti et al. PEDIATRIC RADIOLOGY
- Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome
- (2013) Tian Yu et al. eLife
- Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis
- (2012) Hannah M. Tully et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a
- (2012) P. Feraco et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity
- (2012) Gisele E. Ishak et al. BRAIN
- Prenatal diagnosis and molecular characterization of a novel locus for Dandy–Walker malformation on chromosome 7p21.3
- (2012) Can Liao et al. European Journal of Medical Genetics
- Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis
- (2012) T. Pisano et al. NEUROLOGY
- Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
- (2012) Andrea Poretti et al. Orphanet Journal of Rare Diseases
- Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
- (2012) A. Aguilar et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
- (2012) Martin Breuss et al. Cell Reports
- Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
- (2011) A. Poretti et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Prenatal Brain Disruption in Molybdenum Cofactor Deficiency
- (2011) Nirit Carmi-Nawi et al. JOURNAL OF CHILD NEUROLOGY
- Phenotypic spectrum associated with CASK loss-of-function mutations
- (2011) U. Moog et al. JOURNAL OF MEDICAL GENETICS
- Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
- (2011) Madeline A Lancaster et al. NATURE MEDICINE
- Fetal Origin of Brain Damage in 2 Infants with aCOL4A1Mutation: Fetal and Neonatal MRI
- (2011) R. J. Vermeulen et al. NEUROPEDIATRICS
- Ciliopathies
- (2011) Friedhelm Hildebrandt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Pontine Tegmental Cap Dysplasia
- (2011) Nilesh K. Desai et al. OTOLARYNGOLOGY-HEAD AND NECK SURGERY
- Neuroradiologic Features ofCASKMutations
- (2010) J. Takanashi et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Cervical and Intracranial Arterial Anomalies in 70 Patients with PHACE Syndrome
- (2010) C.P. Hess et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks
- (2010) Jeffrey C. Murray et al. CLINICAL GENETICS
- Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects
- (2010) Maja Steinlin DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Neocerebellar Hypoplasia in a Neonate Following Intra-uterine Exposure to Anticonvulsants
- (2010) Waney Squier et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities
- (2010) O. Rubio-Cabezas et al. DIABETES
- Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria
- (2010) Biayna Sukhudyan et al. EUROPEAN JOURNAL OF PEDIATRICS
- Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
- (2010) Karine Poirier et al. HUMAN MOLECULAR GENETICS
- Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
- (2009) Mohammad R. Abdollahi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
- (2009) Jörn Oliver Sass et al. BRAIN & DEVELOPMENT
- Neuroimaging and fetal alcohol spectrum disorders
- (2009) Andria L. Norman et al. Developmental Disabilities Research Reviews
- Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review
- (2009) MARIE-EVE BOLDUC et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Outcome of severe unilateral cerebellar hypoplasia
- (2009) ANDREA PORETTI et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Cerebellum of the Premature Infant: Rapidly Developing, Vulnerable, Clinically Important
- (2009) Joseph J. Volpe JOURNAL OF CHILD NEUROLOGY
- Neurodevelopmental outcomes following ganciclovir therapy in symptomatic congenital cytomegalovirus infections involving the central nervous system
- (2009) Sara E. Oliver et al. JOURNAL OF CLINICAL VIROLOGY
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
- (2009) D. Doherty et al. JOURNAL OF MEDICAL GENETICS
- The fetal cerebellum. Pitfalls in diagnosis and management
- (2009) Gustavo Malinger et al. PRENATAL DIAGNOSIS
- Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
- (2009) Dan Doherty Seminars in Pediatric Neurology
- PHACES Association: A Neuroradiologic Review of 17 Patients
- (2008) V.S. Oza et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation
- (2008) P. Jissendi-Tchofo et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
- (2008) Emma Clement et al. ANNALS OF NEUROLOGY
- Gomez–Lopez-Hernandez syndrome: An easily missed diagnosis
- (2008) Andrea Poretti et al. European Journal of Medical Genetics
- Preterm birth and disruptive cerebellar development: Assessment of perinatal risk factors
- (2008) Agnes Messerschmidt et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Cognitive outcome in children with rhombencephalosynapsis
- (2008) Andrea Poretti et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Morphological spectrum of prenatal cerebellar disruptions
- (2008) Andrea Poretti et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
- (2008) Juliane Najm et al. NATURE GENETICS
- Midbrain-hindbrain involvement in lissencephalies
- (2008) P. Jissendi-Tchofo et al. NEUROLOGY
- Cerebellar Cleft: A Form of Prenatal Cerebellar Disruption
- (2008) A. Poretti et al. NEUROPEDIATRICS
- Differential diagnosis of cerebellar atrophy in childhood
- (2007) Andrea Poretti et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started