Works matching DE "CONGENITAL central hypoventilation syndrome"
Results: 48
The genetics of congenital central hypoventilation syndrome: clinical implications.
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- Application of Clinical Genetics, 2018, v. 11, p. 135, doi. 10.2147/TACG.S140629
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- Article
Pitfalls of open-access sleep medicine: a case of missed congenital central hypoventilation syndrome.
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- 2016
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- journal article
Wearable Wake-up System for CCHS Patients.
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- Current Directions in Biomedical Engineering, 2022, v. 8, n. 2, p. 245, doi. 10.1515/cdbme-2022-1063
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- Article
Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome.
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- 2021
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- journal article
Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome.
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- Indian Journal of Critical Care Medicine, 2019, v. 23, n. 11, p. 536, doi. 10.5005/jp-journals-10071-23286
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- Article
Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience.
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- Pediatric Surgery International, 2012, v. 28, n. 12, p. 1211, doi. 10.1007/s00383-012-3214-3
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- Article
Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 473, doi. 10.1038/jhg.2015.65
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- Article
Genetics Corner: PHOX2B-Associated Congenital Central Hypoventilation Syndrome in a 2-Year-Old Male with Autism.
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- Neonatology Today, 2024, v. 19, n. 12, p. 185
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- Article
Congenital central hypoventilation syndrome and intestinal aganglionosis: A case report.
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- South African Journal of Child Health, 2013, v. 7, n. 4, p. 157, doi. 10.7196/SAJCH.625
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- Article
An Assistive Device for Congenital Central Hypoventilation Syndrome Outpatients During Sleep.
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- Annals of Biomedical Engineering, 2014, v. 42, n. 10, p. 2106, doi. 10.1007/s10439-014-1068-7
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- Article
Challenges in congenital central hypoventilation syndrome (Ondine's curse) on pregnancy: a case report.
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- 2017
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- journal article
Sleep apnea symptoms and risk of temporomandibular disorder: OPPERA cohort.
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- Journal of Oral & Facial Pain & Headache, 2014, v. 28, n. 1, p. 91, doi. 10.1177/0022034513488140
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- Article
Early diagnosis of congenital central hypoventilation syndrome.
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- Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15803
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- Article
Evaluation of respiratory center function in congenital central hypoventilation syndrome by monitoring electrical activity of the diaphragm.
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- Pediatrics International, 2021, v. 63, n. 2, p. 168, doi. 10.1111/ped.14359
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- Article
Novel PHOX2B mutations in congenital central hypoventilation syndrome.
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- Pediatrics International, 2019, v. 61, n. 4, p. 393, doi. 10.1111/ped.13812
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- Article
Effects of nasal continuous positive airway pressure therapy on partners' sexual lives.
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- European Archives of Oto-Rhino-Laryngology, 2016, v. 273, n. 1, p. 133, doi. 10.1007/s00405-015-3546-4
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- Article
Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.
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- Oncogene, 2014, v. 33, n. 25, p. 3316, doi. 10.1038/onc.2013.290
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- Article
Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 4, p. 495, doi. 10.5507/bp.2016.038
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- Article
Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases.
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- Current Pediatric Reviews, 2019, v. 15, n. 3, p. 139, doi. 10.2174/1573396315666190621103954
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- Article
Graphical Abstracts.
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- Current Pediatric Reviews, 2019, v. 15, n. 3, p. 1
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- Article
The role of pH-sensitive TASK channels in central respiratory chemoreception.
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- Pflügers Archiv: European Journal of Physiology, 2015, v. 467, n. 5, p. 917, doi. 10.1007/s00424-014-1633-9
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- Article
PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
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- International Journal of Legal Medicine, 2014, v. 128, n. 4, p. 621, doi. 10.1007/s00414-013-0962-0
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- Article
Evaluating the evidence: is phrenic nerve stimulation a safe and effective tool for decreasing ventilator dependence in patients with high cervical spinal cord injuries and central hypoventilation?
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- Child's Nervous System, 2016, v. 32, n. 6, p. 1033, doi. 10.1007/s00381-016-3086-2
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- Article
Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
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- Acta Neuropathologica, 2015, v. 130, n. 2, p. 171, doi. 10.1007/s00401-015-1441-0
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- Article
Central Congenital Hypoventilation Syndrome: Avoiding Hypoxemia.
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- International Student Journal of Nurse Anesthesia, 2017, v. 16, n. 3, p. 14
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- Article
Effect of Facemask in Congenital Central Hypoventilation Syndrome.
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- Respiration, 2023, v. 102, n. 12, p. 991, doi. 10.1159/000535127
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- Article
Airway Obstruction during Sleep due to Diaphragm Pacing Precludes Decannulation in Young Children with CCHS.
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- Respiration, 2019, v. 98, n. 3, p. 263, doi. 10.1159/000501172
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- Article
Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients.
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- Respiration, 2015, v. 89, n. 6, p. 534, doi. 10.1159/000381401
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- Article
Clinical Features of COVID-19 in Patients with Congenital Central Hypoventilation Syndrome.
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- Pediatric Allergy, Immunology & Pulmonology, 2023, v. 36, n. 2, p. 52, doi. 10.1089/ped.2023.0004
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- Article
Annual Respiratory Evaluations in Congenital Central Hypoventilation Syndrome and Changes in Ventilatory Management.
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- Pediatric Allergy, Immunology & Pulmonology, 2021, v. 34, n. 3, p. 97, doi. 10.1089/ped.2021.0072
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- Article
Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome.
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- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0299-z
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- Article
Cover Image.
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- Pediatric Anesthesia, 2018, v. 28, n. 11, p. i, doi. 10.1111/pan.13540
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Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid‐onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve‐diaphragm pacemaker implantation
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- Pediatric Anesthesia, 2018, v. 28, n. 11, p. 963, doi. 10.1111/pan.13475
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- Article
Alternative methods of lung isolation in cases of pediatric bilateral thoracoscopic surgery.
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- Pediatric Anesthesia, 2016, v. 26, n. 12, p. 1209, doi. 10.1111/pan.13012
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- Article
Maxillary Hypoplasia and Non-Invasive Ventilation: Literature Review and Proposed New Treatment Protocol.
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- Children, 2024, v. 11, n. 6, p. 720, doi. 10.3390/children11060720
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Desaturations in a newborn with bowel obstruction, an autonomic connection.
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- University of Toronto Medical Journal, 2022, v. 99, n. 3, p. 66
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- Article
Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.
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- Clinical Medicine Insights: Pediatrics, 2023, v. 17, p. 1, doi. 10.1177/11795565231169556
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- Article
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series.
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- 2013
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- journal article
Congenital central hypoventilation syndrome and carbon dioxide sensitivity.
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- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1727, doi. 10.1007/s00431-014-2432-1
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- Article
Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians.
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- Neonatal Network, 2019, v. 33, n. 4, p. 217, doi. 10.1891/0730-0832.38.4.217
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- Article
Congenital central hypoventilation syndrome with Hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
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- Turkish Journal of Pediatrics, 2012, v. 54, n. 5, p. 519
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- Article
Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.
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- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0636-8
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- Article
Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the <i>PHOX2B</i> gene.
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- Sleep & Breathing, 2013, v. 17, n. 4, p. 1275, doi. 10.1007/s11325-013-0833-4
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- Article
Conscious sedation with dexmedetomidine for implantation of a phrenic nerve stimulator in a pediatric case of late-onset congenital central hypoventilation syndrome.
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- JA Clinical Reports, 2017, v. 3, n. 1, p. 1, doi. 10.1186/s40981-017-0117-2
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Congenital central hypoventilation syndrome mimicking mitochondrial disease.
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- 2018
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- Publication type:
- Case Study
The Cerebral Cost of Breathing: An fMRI Case-Study in Congenital Central Hypoventilation Syndrome.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107850
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- Article
Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake?
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084534
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Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.
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- Respiratory Research, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12931-015-0241-3
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- Article