Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation (Q35118148)

6 August 2017

Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation (English)

1 reference

6 August 2017

King MD

1

1 reference

6 August 2017

Dudgeon J

series ordinal

2

1 reference

6 August 2017

Stephenson JB

series ordinal

3

1 reference

6 August 2017

language of work or name

English

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publication date

1 August 1984

1 reference

Archives of Disease in Childhood

6 August 2017

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6 August 2017

59

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6 August 2017

8

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6 August 2017

709-718

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The Joubert syndrome associated with bilateral chorioretinal coloboma.

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Joubert syndrome: a case confirmed by computerized tomography

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Joubert-Boltshauser syndrome with polydactyly in siblings

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Congenital amaurosis of retinal origin. Frequent association with neurological disorders.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Mental retardation and neurologic involvement in patients with congenital retinal blindness.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Genetics of the Meckel syndrome (dysencephalia splanchnocystica)

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Human retinal development: Ultrastructure of the inner retinal layers

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Respiration in an infant with the Dandy-Walker syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

The Dandy-Walker and Arnold-Chiari malformations. Clinical, developmental, and teratological considerations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Vermian agenesis and unsegmented midbrain tectum. Case report

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Agenesis of the Vermis Cerebelli and Malformations of the Posterior Fossa in Childhood and Adolescence

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Connections between respiratory regulation and paradoxical sleep in a patient with Joubert's syndrome (author's transl)

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Retinal Aplasia as a Clinical Entity.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

THE DANDY-WALKER SYNDROME

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Syndrome characterized by lingual malformation, Polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628644

Amaurosis congenita (Leber)

27 September 2018

1 reference

12 December 2020

[Joubert's syndrome. Apropos of 5 cases]

1 reference

12 December 2020

Leber's congenital amaurosis

1 reference

12 December 2020

Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case

1 reference

12 December 2020

[Histopathological study of 2 cases of Leber's congenital tapeto-retinal degeneration]

1 reference

12 December 2020

[Joubert syndrome. Report of a new case and review of literature (author's transl)]

1 reference

12 December 2020

Congenital amaurosis of Leber

1 reference

12 December 2020

Joubert syndrome: clinical and polygraphic observations in a further case

1 reference

12 December 2020

[Joubert syndrome. Clinical contribution]

1 reference

12 December 2020

Development of the ERG in Relation to Histological Differentiation of the Retina in Man and Animals

1 reference

12 December 2020

Electroretinography in neonates treated with phototherapy

1 reference

12 December 2020

[A case of Joubert syndrome. CT findings of brainstem and review of literature]

1 reference

12 December 2020

ELECTRON MICROSCOPY OF A RETINAL ABIOTROPHY

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.59.8.709

1 reference

6 August 2017

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6 August 2017

1 reference