Molecular analysis of congenital central hypoventilation syndrome - Wikidata - wikimedia - TriplyDB

Molecular analysis of congenital central hypoventilation syndrome

Molecular analysis of congenital central hypoventilation syndrome

http://www.wikidata.org/entity/Q28210943

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RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family Impaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndrome Pediatric disorders with autonomic dysfunction: what role for PHOX2B?Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion Central Alveolar Hypoventilation Syndromes.Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environment Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep.A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA.Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.Cardiovascular abnormalities and arrhythmias in patients with Ondine's curse (congenital central hypoventilation) syndrome.Neurotrophic factor receptor RET: structure, cell biology, and inherited diseases.A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Executive summary of respiratory indications for polysomnography in children: an evidence-based review.Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes.Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.The Phox2B homeobox gene is mutated in sporadic neuroblastomas.Novel neuropathologic findings in the Haddad syndrome.Phorbol-Ester Mediated Suppression of hASH1 Synthesis: Multiple Ways to Keep the Level Down Haddad syndrome with PHOX2B gene mutation in a Korean infant.Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b.A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history.Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.Variable human phenotype associated with novel deletions of the PHOX2B gene.Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

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P2860

Molecular analysis of congenital central hypoventilation syndrome

http://www.wikidata.org/entity/Q28210943

description

2003 nî lūn-bûn

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2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Molecular analysis of congenital central hypoventilation syndrome

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Molecular analysis of congenital central hypoventilation syndrome

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Molecular analysis of congenital central hypoventilation syndrome

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type

label

Molecular analysis of congenital central hypoventilation syndrome

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Molecular analysis of congenital central hypoventilation syndrome

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Molecular analysis of congenital central hypoventilation syndrome

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prefLabel

Molecular analysis of congenital central hypoventilation syndrome

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Molecular analysis of congenital central hypoventilation syndrome

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Molecular analysis of congenital central hypoventilation syndrome

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Hisaya Hasegawa

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Kazuhiro Akaba

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Kazuki Kijima

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Keiji Tuchiya

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Kiyoshi Hayasaka

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Masayo Kanai

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Motoya Hashimoto

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Shinsuke Otaki

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