Format
Sort by
Items per page

Send to

Choose Destination

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

Search results

Items: 1 to 20 of 56

1.

Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians.

Fisher M, Smeiles C, Jnah AJ, Ruiz ME, Difiore T, Sewell K.

Neonatal Netw. 2019 Jul 1;38(4):217-225. doi: 10.1891/0730-0832.38.4.217. Epub 2019 Jul 8.

PMID:
31470390
2.

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.

3.

Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases.

Broch A, Trang H, Montalva L, Berrebi D, Dauger S, Bonnard A.

J Pediatr Surg. 2019 Nov;54(11):2325-2330. doi: 10.1016/j.jpedsurg.2019.02.014. Epub 2019 Mar 1.

PMID:
30879749
4.

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
5.

Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.

Kasi AS, Kun SS, Keens TG, Perez IA.

J Clin Sleep Med. 2018 Dec 15;14(12):2079-2081. doi: 10.5664/jcsm.7542.

6.

Clinical approach to cardiac pauses in congenital central hypoventilation syndrome.

Mitacchione G, Bontempi L, Curnis A.

Pediatr Pulmonol. 2019 Feb;54(2):E4-E6. doi: 10.1002/ppul.24189. Epub 2018 Nov 20.

PMID:
30461223
7.

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
8.
9.

A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.

Miura Y, Watanabe T, Uchida T, Nawa T, Endo N, Fukuzawa T, Ohkubo R, Takeyama J, Sasaki A, Hayasaka K.

Eur J Med Genet. 2019 Sep;62(9):103541. doi: 10.1016/j.ejmg.2018.09.008. Epub 2018 Sep 15.

PMID:
30227298
10.

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
11.

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation.

Janssen HCJP, Vulto-van Silfhout AT, Jongmans MCJ, van der Hout AH, Overeem S.

J Clin Sleep Med. 2018 Aug 15;14(8):1427-1430. doi: 10.5664/jcsm.7290.

12.

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.

13.

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.

14.

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
15.

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.

16.

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
17.

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
18.

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
19.

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.

20.

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

Supplemental Content

Loading ...
Support Center