نتائج البحث

Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction.

• Authors : Dudoignon B; Service de Physiologie Pédiatrique-Centre du Sommeil, Université de Paris-Cité, AP-HP, Hôpital Robert Debré, CRMR Maladies respiratoires rares - Hypoventilations alvéolaires rares - Syndrome d'Ondine, INSERM NeuroDiderot, Paris, F-75019, France. .; Maruani A

Subjects: Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/physiopathology ; Hypoventilation*/Hypoventilation*/Hypoventilation*/congenital ; Hypoventilation*/Hypoventilation*/Hypoventilation*/physiopathology Congenital central hypoventilation syndrome

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 03; Vol. 19 (1), pp. 249. Date of Electronic Publication: 2024 Jul 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method.

• Authors : Trang H; Centre de référence de Maladies Respiratoires Rares Syndrome d'Ondine, Hôpital Universitaire Robert Debré, 48 Boulevard Sérurier, 75019, Paris, France. .; Université de Paris, 10 avenue de Verdun, 75010, Paris, France. .

Subjects: Hypoventilation*/Hypoventilation*/Hypoventilation*/congenital ; Hypoventilation*/Hypoventilation*/Hypoventilation*/genetics ; Sleep Apnea, Central*/Sleep Apnea, Central*/Sleep Apnea, Central*/geneticsCongenital central hypoventilation syndrome

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Nov 17; Vol. 15 (1), pp. 322. Date of Electronic Publication: 2020 Nov 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

• Authors : Trang H; Hôpital Universitaire Robert Debré, Centre de référence des maladies respiratoires rares, and Université de Paris, Paris, France. .; Samuels M

Subjects: Sleep Apnea, Central*/Sleep Apnea, Central*/Sleep Apnea, Central*/diagnosis ; Sleep Apnea, Central*/Sleep Apnea, Central*/Sleep Apnea, Central*/genetics ; Sleep Apnea, Central*/Sleep Apnea, Central*/Sleep Apnea, Central*/therapyCongenital central hypoventilation syndrome

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 21; Vol. 15 (1), pp. 252. Date of Electronic Publication: 2020 Sep 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Proceedings of the fourth international conference on central hypoventilation.

• Authors : Ha Trang¹ ; Brunet, Jean-François F.² ; Rohrer, Hermann³

• Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p174-219. 46p.

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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

• Authors : Barclay, Sarah F.¹; Rand, Casey M.²; Borch, Lauren A.¹

• Source: Orphanet Journal of Rare Diseases. Aug2015, Vol. 10 Issue 1, p1-13. 13p.

تفاصيل العنوان

Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome).

• Authors : Attali V; Sorbonne Universités, UPMC Université Paris 06, INSERM, UMRS1158 'Neurophysiologie Respiratoire Expérimentale et Clinique', Paris, France. .; Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France. .

Subjects: Respiration, Artificial*; Hypoventilation/Hypoventilation/Hypoventilation/*congenital ; Sleep/Sleep/Sleep/*physiology Congenital central hypoventilation syndrome

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jan 23; Vol. 12 (1), pp. 18. Date of Electronic Publication: 2017 Jan 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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ROHHAD syndrome and evolution of sleep disordered breathing.

• Authors : Reppucci, Diana¹; Hamilton, Jill^1,2; Yeh, E. Ann^1,2

• Source: Orphanet Journal of Rare Diseases. 7/30/2016, Vol. 11, p1-8. 8p.

تفاصيل العنوان

Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome)

• Authors : Valérie, Attali; Christian, Straus; Michel, Pottier

Subjects: Adult; Male; Congenital central hypoventilation syndrome

• Source: Orphanet Journal of Rare Diseases

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ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

• Authors : Barclay SF; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada. .; Rand CM

Subjects: Obesity Hypoventilation Syndrome/Obesity Hypoventilation Syndrome/Obesity Hypoventilation Syndrome/*diagnosis ; Pediatric Obesity/Pediatric Obesity/Pediatric Obesity/*diagnosis ; Prader-Willi Syndrome/Prader-Willi Syndrome/Prader-Willi Syndrome/*diagnosis

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jul 20; Vol. 13 (1), pp. 124. Date of Electronic Publication: 2018 Jul 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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The trisomy 18 syndrome

• Authors : Anna Cereda; John C. Carey

Subjects: Male; Pediatrics; medicine.medical_specialty

• Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 81 (2012)Orphanet Journal of Rare Diseases

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