Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q35118148

about

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome Central nervous system malformations in Mohr's syndrome Clinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.Clinical features and revised diagnostic criteria in Joubert syndrome.The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.Renal insufficiency is a component of COACH syndrome.Congenital retinal dystrophies: a study of early cognitive and visual development.Genetic basis of Joubert syndrome and related disorders of cerebellar development.Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control.Eye movement abnormalities in Joubert syndrome.Dizziness in childhood.Cognition, behavior, and development in Joubert syndrome.Joubert syndrome: early diagnosis by recognition of the behavioral phenotype and confirmation by cranial sonography.Ataxia, hyperpnoea and mental retardation: was it the molar tooth?The electroretinogram.Ocular and oculomotor signs in Joubert syndrome."Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.Prenatal sonographic diagnosis of vermal agenesis.Clinical and molecular analysis in Joubert syndrome.

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P2860

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

http://www.wikidata.org/entity/Q35118148

description

1984 nî lūn-bûn

@nan

1984 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1984 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1984年の論文

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1984年論文

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1984年論文

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1984年論文

@zh-hk

1984年論文

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1984年論文

@zh-tw

1984年论文

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name

Joubert's syndrome with retina ...... enetic brain-eye malformation.

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Joubert's syndrome with retina ...... enetic brain-eye malformation.

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type

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Joubert's syndrome with retina ...... enetic brain-eye malformation.

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Joubert's syndrome with retina ...... enetic brain-eye malformation.

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prefLabel

Joubert's syndrome with retina ...... enetic brain-eye malformation.

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Joubert's syndrome with retina ...... enetic brain-eye malformation.

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Archives of Disease in Childhood

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Joubert's syndrome with retina ...... enetic brain-eye malformation.

@en

P2093

Dudgeon J

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King MD

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Stephenson JB

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P2860

Joubert-Boltshauser syndrome with polydactyly in siblings

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

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.

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

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

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

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

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

Joubert syndrome: a case confirmed by computerized tomography.

Agenesis of the vermis cerebelli and malformations of the posterior fossa in childhood and adolescence.

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709-718

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scholarly article

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10.1136/ADC.59.8.709

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8

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59

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16719174

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6476867

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1628644

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