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Items: 1 to 20 of 55

1.

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Paglietti MG, Cherchi C, Porcaro F, Agolini E, Schiavino A, Petreschi F, Novelli A, Cutrera R.

Ital J Pediatr. 2019 Apr 18;45(1):49. doi: 10.1186/s13052-019-0636-8.

2.

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Sasaki A, Kishikawa Y, Imaji R, Fukushima Y, Nakamura Y, Nishimura Y, Yamada M, Mino Y, Mitsui T, Hayasaka K.

Pediatr Int. 2019 Apr;61(4):393-396. doi: 10.1111/ped.13812. Epub 2019 Apr 17.

PMID:
30786110
3.

Dysregulated glucose homeostasis in congenital central hypoventilation syndrome.

Musthaffa YM, Goyal V, Harris MA, Kapur N, Leger J, Harris M.

J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1325-1333. doi: 10.1515/jpem-2018-0086.

PMID:
30447143
4.
5.

Systemic oxidative stress in congenital central hypoventilation syndrome.

Degl'Innocenti D, Becatti M, Peruzzi M, Fiorillo C, Ramazzotti M, Nassi N, Arzilli C, Piumelli R.

Eur Respir J. 2018 Nov 15;52(5). pii: 1801497. doi: 10.1183/13993003.01497-2018. Print 2018 Nov. No abstract available.

PMID:
30209197
6.

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.

Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB.

Am J Med Genet A. 2018 Jul;176(7):1627-1631. doi: 10.1002/ajmg.a.38720. Epub 2018 Apr 28.

7.

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.

Byers HM, Chen M, Gelfand AS, Ong B, Jendras M, Glass IA.

Am J Med Genet A. 2018 Jun;176(6):1398-1404. doi: 10.1002/ajmg.a.38726. Epub 2018 Apr 25.

8.

Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene.

Ventura F, Barranco R, Bachetti T, Nozza P, Fulcheri E, Palmieri A, Ceccherini I.

J Forensic Leg Med. 2018 Aug;58:1-5. doi: 10.1016/j.jflm.2018.04.009. Epub 2018 Apr 17.

PMID:
29679838
9.

Inhalational Anesthetics Induce Neuronal Protein Aggregation and Affect ER Trafficking.

Coghlan M, Richards E, Shaik S, Rossi P, Vanama RB, Ahmadi S, Petroz C, Crawford M, Maynes JT.

Sci Rep. 2018 Mar 27;8(1):5275. doi: 10.1038/s41598-018-23335-0.

10.

Genetic factors in sleep-disordered breathing.

Tanizawa K, Chin K.

Respir Investig. 2018 Mar;56(2):111-119. doi: 10.1016/j.resinv.2017.11.012. Epub 2017 Dec 23. Review.

PMID:
29548648
11.

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.

Lombardo RC, Porollo A, Cnota JF, Hopkin RJ.

Genet Med. 2018 Dec;20(12):1538-1543. doi: 10.1038/gim.2018.34. Epub 2018 Mar 15.

PMID:
29543228
12.

Congenital central hypoventilation syndrome: diagnosis and management.

Maloney MA, Kun SS, Keens TG, Perez IA.

Expert Rev Respir Med. 2018 Apr;12(4):283-292. doi: 10.1080/17476348.2018.1445970. Epub 2018 Feb 28. Review.

PMID:
29486608
13.

Obstructive Sleep Apnea in Patients With Congenital Central Hypoventilation Syndrome Ventilated by Diaphragm Pacing Without Tracheostomy.

Wang A, Kun S, Diep B, Davidson Ward SL, Keens TG, Perez IA.

J Clin Sleep Med. 2018 Feb 15;14(2):261-264. doi: 10.5664/jcsm.6948.

14.

Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls.

Zelko FA, Stewart TM, Brogadir CD, Rand CM, Weese-Mayer DE.

Pediatr Pulmonol. 2018 Apr;53(4):492-497. doi: 10.1002/ppul.23939. Epub 2018 Jan 12.

PMID:
29327497
15.

Haddad syndrome novel association with BRAF mutation.

Al Dakhoul S.

J Neonatal Perinatal Med. 2017;10(4):455-457. doi: 10.3233/NPM-16170.

PMID:
29286936
16.

Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.

Zaidi S, Gandhi J, Vatsia S, Smith NL, Khan SA.

Auton Neurosci. 2018 Mar;210:1-9. doi: 10.1016/j.autneu.2017.11.003. Epub 2017 Nov 13. Review.

PMID:
29249648
17.

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

Di Lascio S, Benfante R, Di Zanni E, Cardani S, Adamo A, Fornasari D, Ceccherini I, Bachetti T.

Hum Mutat. 2018 Feb;39(2):219-236. doi: 10.1002/humu.23365. Epub 2017 Nov 21.

18.

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.

Schirwani S, Pysden K, Chetcuti P, Blyth M.

J Clin Sleep Med. 2017 Nov 15;13(11):1359-1362. doi: 10.5664/jcsm.6818.

19.

Congenital central hypoventilation syndrome: A pictorial demonstration of absent electrical diaphragmatic activity using non-invasive neurally adjusted ventilatory assist.

Sinclair R, Teng A, Jonas C, Schindler T.

J Paediatr Child Health. 2018 Feb;54(2):200-202. doi: 10.1111/jpc.13690. Epub 2017 Aug 29. No abstract available.

PMID:
28851075
20.

Neuropsychological profile and social cognition in congenital central hypoventilation syndrome (CCHS): Correlation with neuroimaging in a clinical case.

Esteso Orduña B, Seijas Gómez R, García Esparza E, Briceño EM, Melero Llorente J, Fournier Del Castillo MC.

J Clin Exp Neuropsychol. 2018 Feb;40(1):75-83. doi: 10.1080/13803395.2017.1319913. Epub 2017 Jul 14.

PMID:
28708033

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