BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 33983112)

  • 1. Variable phenotypes in congenital central hypoventilation syndrome with
    Kasi AS; Li H; Jurgensen TJ; Guglani L; Keens TG; Perez IA
    J Clin Sleep Med; 2021 Oct; 17(10):2049-2055. PubMed ID: 33983112
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea.
    Fain ME; Raghunandan S; Pencheva B; Leu RM; Kasi AS
    J Clin Sleep Med; 2024 Mar; 20(3):478-481. PubMed ID: 37861394
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel
    Kasi AS; Jurgensen TJ; Yen S; Kun SS; Keens TG; Perez IA
    J Clin Sleep Med; 2017 Jul; 13(7):925-927. PubMed ID: 28633714
    [No Abstract]   [Full Text] [Related]  

  • 4. Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?
    Wo LL; Itani R; Keens TG; Marachelian A; Ji J; Perez IA
    J Clin Sleep Med; 2023 Jun; 19(6):1161-1164. PubMed ID: 36798979
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.
    Evers-Bikker EE; de Weerd W; Wijkstra PJ; Corel L; Verweij LP; Vosse BAH
    Eur J Pediatr; 2024 Feb; 183(2):791-797. PubMed ID: 38001308
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
    Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H
    J Clin Sleep Med; 2014 Mar; 10(3):327-9. PubMed ID: 24634632
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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. PubMed ID: 30227298
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
    Zhou A; Rand CM; Hockney SM; Niewijk G; Reineke P; Speare V; Berry-Kravis EM; Zhou L; Jennings LJ; Yu M; Ceccherini I; Bachetti T; Pennock M; Yap KL; Weese-Mayer DE
    Genet Med; 2021 Sep; 23(9):1656-1663. PubMed ID: 33958749
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.
    Hino A; Terada J; Kasai H; Shojima H; Ohgino K; Sasaki A; Hayasaka K; Tatsumi K
    J Clin Sleep Med; 2020 Nov; 16(11):1891-1900. PubMed ID: 32741443
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Novel c.676_677insG
    Ye G; Han D; Jiang Y; Wang Z; Zhou Y; Lin X; Chen W; Chen M; Xu J; Yang Y; Guo Q
    J Clin Sleep Med; 2019 Mar; 15(3):509-513. PubMed ID: 30853048
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a
    Janssen HCJP; Vulto-van Silfhout AT; Jongmans MCJ; van der Hout AH; Overeem S
    J Clin Sleep Med; 2018 Aug; 14(8):1427-1430. PubMed ID: 30092902
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.