Keywords: سندرم hypoventilation مرکزی مادرزادی; ANS; autonomic nervous system; ANSD; autonomic nervous system dysfunction; APOE; apolipoprotein E; ATS; American Thoracic Society; BMI; body mass index; CARe; Candidate Gene Association Resource; CCHS; congenital central hypoventilation syndrome; CFS; Cle
مقالات ISI سندرم hypoventilation مرکزی مادرزادی (ترجمه نشده)
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Keywords: سندرم hypoventilation مرکزی مادرزادی; cognitive function; genetics; hypoventilation; CCHS; Congenital Central Hypoventilation Syndrome; NPARMS; non-polyalanine repeat expansion mutations; PARMs; polyalanine repeat expansion mutations;
Keywords: سندرم hypoventilation مرکزی مادرزادی; Ondine’s curse; Congenital central hypoventilation syndrome; Phrenic nerve electrodes; Diaphragmatic pacing
Keywords: سندرم hypoventilation مرکزی مادرزادی; Congenital central hypoventilation syndrome; BiPAP; Midface hypoplasia
Keywords: سندرم hypoventilation مرکزی مادرزادی; ANS; Autonomic nervous system; BMI; Body mass index; CCHS; Congenital central hypoventilation syndrome; FGIR; Fasting glucose-to-insulin ratio; OGTT; Oral glucose tolerance test; PHOX2B; Paired-like homeobox 2B gene; QUICKI; Quantitative insulin sensitivi
Keywords: سندرم hypoventilation مرکزی مادرزادی; Congenital central hypoventilation syndrome; Ondine syndrome; Hirschsprung's disease; Haddad syndrome; PHOX2B geneSíndrome de hipoventilação central congênita; Síndrome de Ondine; Doença de Hirschsprung; Síndrome de Haddad; Gene PHOX2B
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene
Keywords: سندرم hypoventilation مرکزی مادرزادی; Congenital central hypoventilation syndrome; PHOX2B gene; polyAlanine contractions;
Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management
Keywords: سندرم hypoventilation مرکزی مادرزادی; Congenital central hypoventilation syndrome; Ondine's curse; Sudden infant death syndrome; Hirschsprung's disease; Positive-pressure ventilation; Diaphragm pacing; Progestin;
Analysis of sporadic neuroblastic tumors reveals a novel PHOX2B mutation in neuroblastoma
Keywords: سندرم hypoventilation مرکزی مادرزادی; NB; neuroblastoma; GNB; ganglioneuroblastoma; GNR; ganglioneuroma; PHOX2B; Paired like homeobox 2b; ALK; anaplastic lymphoma kinase; CCHS; congenital central hypoventilation syndrome; HSCR; Hirschsprung syndrome; PARMs; poly-alanine repeat expansion mutat
Desogestrel down-regulates PHOX2B and its target genes in progesterone responsive neuroblastoma cells
Keywords: سندرم hypoventilation مرکزی مادرزادی; Sp1; Specificity Protein 1; CREB; CAMP Responsive Element Binding Protein; c-Jun; c-Jun proto-oncogene; Ap2α; Activator protein 2 alpha; CCHS; Congenital Central Hypoventilation Syndrome; 3-KDG; 3-Ketodesogestrel; PGR; human Progesterone Receptor; DRB; 5
Distinctive features of Phox2b-expressing neurons in the rat reticular formation dorsal to the trigeminal motor nucleus
Keywords: سندرم hypoventilation مرکزی مادرزادی; AHP; afterhyperpolarization; amp; amplitude; AP; action potential; 4-AP; 4-aminopyridine; BAC; bacterial artificial chromosome; Ccell; cell capacitance; CCHS; congenital central hypoventilation syndrome; DAB; 3,3â²-diaminobenzidine tetrahydrochloride; DA
PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line
Keywords: سندرم hypoventilation مرکزی مادرزادی; α3 nAChR; alpha 3 nicotinic Acetylcholine Receptor; ATRA; all-trans Retinoic Acid; BMP-2; Bone morphogenetic protein-2; CCHS; Congenital Central Hypoventilation Syndrome; Cdk; cyclin-dependent kinase; ChIP; chromatin immunoprecipitation; CKI; Cdk inhibit
Desogestrel enhances ventilation in ondine patients: Animal data involving serotoninergic systems
Keywords: سندرم hypoventilation مرکزی مادرزادی; Central congenital hypoventilation syndrome; Etonogestrel; Ex vivo medullary-spinal cord preparations; In vivo; Progestin; Mice; aCSF; artificial cerebrospinal fluid; CCHS; congenital central hypoventilation syndrome; CVD; central ventilatory drive; DMS
The progestin etonogestrel enhances the respiratory response to metabolic acidosis in newborn rats. Evidence for a mechanism involving supramedullary structures
Keywords: سندرم hypoventilation مرکزی مادرزادی; aCSF; artificial cerebrospinal fluid; C4; fourth cervical ventral nerve root; CCHS; congenital central hypoventilation syndrome; CNS; central nervous system; DBS; diencephalon-brainstem-spinal cord preparations; DMSO; dimethyl sulfoxide; ETO; etonogestrel
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome
Keywords: سندرم hypoventilation مرکزی مادرزادی; Congenital central hypoventilation syndrome; PHOX2B; Polyalanine mutations; Dominant-negative; DNA binding
Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis
Keywords: سندرم hypoventilation مرکزی مادرزادی; Hirschsprung disease; Congenital central hypoventilation syndrome; Haddad syndrome
Hypoventilations centrales : de l'enfant à l'adulte
Keywords: سندرم hypoventilation مرکزی مادرزادی; Complexe pré-Bötzinger; Syndrome d'hypoventilation centrale congénitale; Syndrome d'Ondine; Syndrome hypothalamique; Pré-Bötzinger complex; Congenital central hypoventilation syndrome; Ondine's curse syndrome; Hypothalamic syndrome;
Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death
Keywords: سندرم hypoventilation مرکزی مادرزادی; Human retrotrapezoid nucleus; SIDS; SIUD; PHOX2B; Congenital Central Hypoventilation Syndrome;
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins
Keywords: سندرم hypoventilation مرکزی مادرزادی; Congenital Central Hypoventilation Syndrome; PHOX2B; Polyalanine expansions; Intracytoplasmic aggregates; Drug treatment; 17-AAG; Curcumin;
Phox2b, congenital central hypoventilation syndrome and the control of respiration
Keywords: سندرم hypoventilation مرکزی مادرزادی; Breathing; Retrotrapezoid nucleus; Phox2b; Congenital central hypoventilation syndrome
Central chemoreception: Lessons from mouse and human genetics
Keywords: سندرم hypoventilation مرکزی مادرزادی; Respiration; Chemosensitivity; Medulla oblongata; Retrotrapezoid nucleus; Congenital central hypoventilation syndrome; Phox2b
Retrotrapezoid nucleus and parafacial respiratory group
Keywords: سندرم hypoventilation مرکزی مادرزادی; Retrotrapezoid nucleus; Parafacial respiratory group; Central chemoreceptors; Phox2b; Congenital central hypoventilation syndrome
Reduced caudate nuclei volumes in patients with congenital central hypoventilation syndrome
Keywords: سندرم hypoventilation مرکزی مادرزادی; magnetic resonance imaging; brain; basal ganglia; striatum; hypoxia; cognition; CCHS; congenital central hypoventilation syndrome; FOV; field-of-view; ICC; intraclass correlation coefficient; MANCOVA; multivariate analysis of covariance; PD; proton-densit
PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in a Chinese Family
Keywords: سندرم hypoventilation مرکزی مادرزادی; hypoventilation; PHOX2B; polysomnography; sleep apnea; ABG; arterial blood gas; BPAP; bilevel positive airway pressure; CCHS; congenital central hypoventilation syndrome; ED; emergency department; HADS; Hospital Anxiety and Depression Scale; LOCHS; late-o
Central Alveolar Hypoventilation Syndromes
Keywords: سندرم hypoventilation مرکزی مادرزادی; Central alveolar hypoventilation; Congenital central hypoventilation syndrome;
Syndrome d'ondine : Ã propos d'un cas oculomoteur original
Keywords: سندرم hypoventilation مرکزی مادرزادی; Syndrome d'Ondine; syndrome d'hypoventilation congénitale centrale; anomalies oculaires; ptôsis alternant; Ondine's curse; congenital central hypoventilation syndrome; ocular findings; alternative ptosis;
The French Congenital Central Hypoventilation Syndrome Registry
Keywords: سندرم hypoventilation مرکزی مادرزادی; central alveolar hypoventilation syndrome; mortality; registry; CCHS; congenital central hypoventilation syndrome; CI; confidence interval; HASH-1; human achaete-scute homologue 1; HSCR; Hirschsprung disease; PHOX2B; paired-like homeobox gene 2B; RR; rela
Development of respiratory control: Evolving concepts and perspectives
Keywords: سندرم hypoventilation مرکزی مادرزادی; Rhythmogenesis; Chemosensitivity; Plasticity; Genetics; Hypoxia; Hyperoxia; Hypercapnia; Human newborns; Newborn mice; Congenital central hypoventilation syndrome; Sudden infant death syndrome; Apnoea of prematurity;