PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. - Wikidata - awgldk - TriplyDB

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

http://www.wikidata.org/entity/Q37446485

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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

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PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

http://www.wikidata.org/entity/Q37446485

description

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bilimsel makale

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scientific article published on 09 April 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

PEHO Syndrome May Represent Ph ...... Early-Onset Encephalopathies.

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PEHO Syndrome May Represent Ph ...... Early-Onset Encephalopathies.

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PEHO Syndrome May Represent Ph ...... Early-Onset Encephalopathies.

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PEHO Syndrome May Represent Ph ...... Early-Onset Encephalopathies.

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PEHO Syndrome May Represent Ph ...... Early-Onset Encephalopathies.

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PEHO Syndrome May Represent Ph ...... Early-Onset Encephalopathies.

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J.PEDIATRNEUROL.2016.03.011

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Pediatric Neurology

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PEHO Syndrome May Represent Ph ...... e Early-Onset Encephalopathies

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Beata Nowakowska

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Danuta Sielicka

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Donna M Muzny

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Eric Boerwinkle

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James R Lupski

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Monika Chorazy

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Pawel Gawlinski

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Renata Posmyk

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Richard A Gibbs

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Shalini N Jhangiani

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P2860

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

Diagnostic criteria and genetics of the PEHO syndrome

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

The PEHO syndrome.

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10.1016/J.PEDIATRNEUROL.2016.03.011

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60

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Monika Bekiesińska-Figatowska

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27343026

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