239 related articles for article (PubMed ID: 26011159)
1. Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.
Armstrong AE; Weese-Mayer DE; Mian A; Maris JM; Batra V; Gosiengfiao Y; Reichek J; Madonna MB; Bush JW; Shore RM; Walterhouse DO
Pediatr Blood Cancer; 2015 Nov; 62(11):2007-10. PubMed ID: 26011159
[TBL] [Abstract][Full Text] [Related]
2. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Heide S; Masliah-Planchon J; Isidor B; Guimier A; Bodet D; Coze C; Deville A; Thebault E; Pasquier CJ; Cassagnau E; Pierron G; Clément N; Schleiermacher G; Amiel J; Delattre O; Peuchmaur M; Bourdeaut F
Pediatr Blood Cancer; 2016 Jan; 63(1):71-7. PubMed ID: 26375764
[TBL] [Abstract][Full Text] [Related]
3. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Berry-Kravis EM; Zhou L; Rand CM; Weese-Mayer DE
Am J Respir Crit Care Med; 2006 Nov; 174(10):1139-44. PubMed ID: 16888290
[TBL] [Abstract][Full Text] [Related]
4. Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T; Ceccherini I
Clin Genet; 2020 Jan; 97(1):103-113. PubMed ID: 31444792
[TBL] [Abstract][Full Text] [Related]
5. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
Weese-Mayer DE; Berry-Kravis EM; Zhou L; Maher BS; Silvestri JM; Curran ME; Marazita ML
Am J Med Genet A; 2003 Dec; 123A(3):267-78. PubMed ID: 14608649
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 29704303
[TBL] [Abstract][Full Text] [Related]
7. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
Di Lascio S; Bachetti T; Saba E; Ceccherini I; Benfante R; Fornasari D
Neurobiol Dis; 2013 Feb; 50():187-200. PubMed ID: 23103552
[TBL] [Abstract][Full Text] [Related]
8. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.
Chuen-im P; Marwan S; Carter J; Kemp J; Rivera-Spoljaric K
Pediatr Pulmonol; 2014 Feb; 49(2):E13-6. PubMed ID: 23460419
[TBL] [Abstract][Full Text] [Related]
9. Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.
Hung CC; Su YN; Tsao PN; Chen PC; Lin SJ; Lin CH; Mu SC; Liu CA; Chang YC; Lin WL; Hsieh WS; Hsu SM
Electrophoresis; 2007 Mar; 28(6):894-9. PubMed ID: 17300129
[TBL] [Abstract][Full Text] [Related]
10. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
Repetto GM; Corrales RJ; Abara SG; Zhou L; Berry-Kravis EM; Rand CM; Weese-Mayer DE
Acta Paediatr; 2009 Jan; 98(1):192-5. PubMed ID: 18798833
[TBL] [Abstract][Full Text] [Related]
11. Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.
Nagashimada M; Ohta H; Li C; Nakao K; Uesaka T; Brunet JF; Amiel J; Trochet D; Wakayama T; Enomoto H
J Clin Invest; 2012 Sep; 122(9):3145-58. PubMed ID: 22922260
[TBL] [Abstract][Full Text] [Related]
12. Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel
Schirwani S; Pysden K; Chetcuti P; Blyth M
J Clin Sleep Med; 2017 Nov; 13(11):1359-1362. PubMed ID: 28992836
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 30786110
[TBL] [Abstract][Full Text] [Related]
14. 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; 45(1):49. PubMed ID: 30999961
[TBL] [Abstract][Full Text] [Related]
15. Adult With
Kasi AS; Kun SS; Keens TG; Perez IA
J Clin Sleep Med; 2018 Dec; 14(12):2079-2081. PubMed ID: 30518452
[No Abstract] [Full Text] [Related]
16. 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. PubMed ID: 27485184
[TBL] [Abstract][Full Text] [Related]
17. 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; 291(25):13375-93. PubMed ID: 27129232
[TBL] [Abstract][Full Text] [Related]
18. Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
Sivan Y; Zhou A; Jennings LJ; Berry-Kravis EM; Yu M; Zhou L; Rand CM; Weese-Mayer DE
Am J Med Genet A; 2019 Mar; 179(3):503-506. PubMed ID: 30672101
[TBL] [Abstract][Full Text] [Related]
19. Outcomes in multifocal neuroblastoma as part of the neurocristopathy syndrome.
Williams P; Wegner E; Ziegler DS
Pediatrics; 2014 Aug; 134(2):e611-6. PubMed ID: 25070313
[TBL] [Abstract][Full Text] [Related]
20. A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Pace NP; Pace Bardon M; Borg I
Mol Genet Genomic Med; 2020 Dec; 8(12):e1528. PubMed ID: 33047879
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
