(Q34271111)

1 August 2017

1 reference

title

Human malformations of the midbrain and hindbrain: review and proposed classification scheme (English)

1 reference

1 August 2017

2

1 reference

1 August 2017

Melissa A Parisi

1

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1 August 2017

1 September 2003

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Molecular Genetics and Metabolism

1 August 2017

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1 August 2017

80

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1 August 2017

36-53

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1 August 2017

1-2

1 reference

Malformations of the posterior fossa: current perspectives

1 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Development and malformations of the cerebellum in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Classification system for malformations of cortical development: update 2001.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Genetic disorders and cerebellar structural abnormalities in childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The development of the folia in the human cerebellar vermis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The cells and molecules that make a cerebellum.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Molecular genetics of cranial nerve development in mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Hindbrain herniation syndromes: the Chiari malformations (I and II).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Lissencephaly and other malformations of cortical development: 1995 update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Mobius sequence--a Swedish multidiscipline study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Bilateral Duane's retraction syndrome. A clinical-pathologic case report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Joubert syndrome: a review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Clinical features and revised diagnostic criteria in Joubert syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Joubert syndrome: monozygotic twins with discordant phenotypes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Autism and autistic behavior in Joubert syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Clinical nosologic and genetic aspects of Joubert and related syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Follow-up in children with Joubert syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Clinical and molecular analysis in Joubert syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Hereditary renal dysplasia and blindness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The Dandy-Walker malformation. A review of 40 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Adult onset of the Dandy-Walker syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Diagnostic criteria for Walker-Warburg syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Brain malformations related to prenatal exposure to ethanol

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Relationship between cerebellar appearance and function in children with Dandy-Walker syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The Dandy-Walker syndrome. A clinicopathological study based on 28 cases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Dandy-Walker syndrome with atresia of the fourth ventricle and multiple rhombencephalic malformations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The Dandy-Walker syndrome--a 10-year experience of its management and outcome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Dandy-Walker syndrome: analysis of 21 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Dandy-Walker syndrome. Clinical analysis of 23 cases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The many faces of PHACE syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Rulers rule: present and future applications of cerebellar morphometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Diagnosis and management of the Dandy-Walker malformation: 30 years of experience

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

X-linked inheritance of Dandy-Walker variant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Primary microcephaly: new approaches for an old disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The Dandy-Walker complex and fetal sonography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Dandy-walker syndrome diagnosed in utero by ultrasonography.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Pontocerebellar hypoplasia--how many types?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

MR findings in pontocerebellar hypoplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

7 January 2021

Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

7 January 2021

Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

7 January 2021

Dandy-Walker syndrome: experience at the Hospital for Sick Children, Toronto

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

7 January 2021

Dandy-Walker syndrome revisited.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.08.010

7 January 2021

10.1016/J.YMGME.2003.08.010

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

14567956