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Best matches for (Sleep Apnea, Central[MAJR]) AND (congenital central hypoventilation syndrome[TIAB]) AND english[la] AND human[mh] AND "last 1800 days"[dp:

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Items: 1 to 20 of 54

1.

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
2.

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
3.

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
4.

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
5.

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.

6.

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.

7.

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.

Kasi AS, Jurgensen TJ, Yen S, Kun SS, Keens TG, Perez IA.

J Clin Sleep Med. 2017 Jul 15;13(7):925-927. doi: 10.5664/jcsm.6670.

8.

Variable phenotype in a novel mutation in PHOX2B.

Lombardo RC, Kramer E, Cnota JF, Sawnani H, Hopkin RJ.

Am J Med Genet A. 2017 Jun;173(6):1705-1709. doi: 10.1002/ajmg.a.38218. Epub 2017 Apr 19.

PMID:
28422456
9.

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

Cain JT, Kim DI, Quast M, Shivega WG, Patrick RJ, Moser C, Reuter S, Perez M, Myers A, Weimer JM, Roux KJ, Landsverk M.

Am J Med Genet A. 2017 May;173(5):1200-1207. doi: 10.1002/ajmg.a.38162. Epub 2017 Mar 29.

10.

A Case of "Abnormally Abnormal" Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation.

Unger SA, Guillot M, Urquhart DS.

J Clin Sleep Med. 2017 Aug 15;13(8):1013-1015. doi: 10.5664/jcsm.6706.

11.

Intelligent volume-assured pressured support (iVAPS) for the treatment of congenital central hypoventilation syndrome.

Khayat A, Medin D, Syed F, Moraes TJ, Bin-Hasan S, Narang I, Al-Saleh S, Amin R.

Sleep Breath. 2017 May;21(2):513-519. doi: 10.1007/s11325-017-1478-5. Epub 2017 Feb 11.

PMID:
28190166
12.

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

Attali V, Straus C, Pottier M, Buzare MA, Morélot-Panzini C, Arnulf I, Similowski T.

Orphanet J Rare Dis. 2017 Jan 23;12(1):18. doi: 10.1186/s13023-017-0569-5.

13.

Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.

Basu SM, Chung FF, AbdelHakim SF, Wong J.

Anesth Analg. 2017 Jan;124(1):169-178. Review.

PMID:
27918326
14.

Challenges in congenital central hypoventilation syndrome (Ondine's curse) on pregnancy: a case report.

Souza RT, Campanharo FF, Araujo Júnior E, Moreira GA, Mazzotti DR, Mattar R, Moron AF, Coelho FM.

J Obstet Gynaecol. 2017 Jan;37(1):107-108. doi: 10.1080/01443615.2016.1233944. Epub 2016 Nov 21. No abstract available.

PMID:
27866447
15.

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Weese-Mayer DE, Rand CM, Zhou A, Carroll MS, Hunt CE.

Pediatr Res. 2017 Jan;81(1-2):192-201. doi: 10.1038/pr.2016.196. Epub 2016 Sep 27. Review.

PMID:
27673423
16.

Alternative methods of lung isolation in cases of pediatric bilateral thoracoscopic surgery.

Wigginton M, Lehrian L.

Paediatr Anaesth. 2016 Dec;26(12):1209-1211. doi: 10.1111/pan.13012. Epub 2016 Oct 20.

17.

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.

Klaskova E, Drabek J, Hobzova M, Smolka V, Seda M, Hyjanek J, Slavkovsky R, Stranska J, Prochazka M.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Dec;160(4):495-498. doi: 10.5507/bp.2016.038. Epub 2016 Aug 2.

18.

Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease.

Mehta VJ, Ling JJ, Martinez EG, Reddy AC, Donahue SP.

J Neuroophthalmol. 2016 Dec;36(4):414-416.

PMID:
27340804
19.

Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.

Moreira TS, Takakura AC, Czeisler C, Otero JJ.

J Neurophysiol. 2016 Aug 1;116(2):742-52. doi: 10.1152/jn.00026.2016. Epub 2016 May 25. Review.

20.

Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.

Di Lascio S, Belperio D, Benfante R, Fornasari D.

J Biol Chem. 2016 Jun 17;291(25):13375-93. doi: 10.1074/jbc.M115.679027. Epub 2016 Apr 27.

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