| 1 |
35421844 | Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene. | 2022 May |
3 |
| 2 |
35486589 | Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death. | 2022 |
1 |
| 3 |
32335870 | Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation. | 2021 Feb |
1 |
| 4 |
33741569 | Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant. | 2021 Mar 19 |
1 |
| 5 |
33881351 | NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo. | 2021 Jun 1 |
1 |
| 6 |
33958749 | Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS). | 2021 Sep |
1 |
| 7 |
31444792 | Causative and common PHOX2B variants define a broad phenotypic spectrum. | 2020 Jan |
3 |
| 8 |
32274237 | Screening Children with a Family History of Central Congenital Hypoventilation Syndrome. | 2020 |
1 |
| 9 |
32822965 | Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene. | 2020 Oct |
4 |
| 10 |
33203435 | Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method. | 2020 Nov 17 |
1 |
| 11 |
30955232 | Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation. | 2019 Jul |
5 |
| 12 |
29098737 | Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome. | 2018 Feb |
2 |
| 13 |
29548648 | Genetic factors in sleep-disordered breathing. | 2018 Mar |
4 |
| 14 |
29679838 | Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene. | 2018 Aug |
1 |
| 15 |
29704303 | Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. | 2018 Jul |
1 |
| 16 |
30518452 | Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome. | 2018 Dec 15 |
1 |
| 17 |
30532577 | The genetics of congenital central hypoventilation syndrome: clinical implications. | 2018 |
1 |
| 18 |
28356171 | A Case of "Abnormally Abnormal" Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation. | 2017 Aug 15 |
1 |
| 19 |
28433712 | Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease. | 2017 Jul |
3 |
| 20 |
28633714 | Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation. | 2017 Jul 15 |
2 |
| 21 |
26375764 | Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations. | 2016 Jan |
3 |
| 22 |
27129232 | Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import. | 2016 Jun 17 |
1 |
| 23 |
27485184 | Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene. | 2016 Dec |
2 |
| 24 |
26109383 | Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports. | 2015 Jun 25 |
2 |
| 25 |
26418987 | [Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case]. | 2015 Oct |
1 |
| 26 |
23460419 | Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations. | 2014 Feb |
4 |
| 27 |
23460545 | Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism. | 2014 Mar |
2 |
| 28 |
23873030 | Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma. | 2014 Jun 19 |
1 |
| 29 |
24442913 | PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population. | 2014 Jul |
4 |
| 30 |
24605541 | [Congenital central hypoventilation syndrome: paradigm shifts and future prospects]. | 2014 Feb |
1 |
| 31 |
24634632 | A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea. | 2014 Mar 15 |
1 |
| 32 |
24799442 | A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation. | 2014 Oct |
1 |
| 33 |
25085640 | Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. | 2014 Sep 9 |
2 |
| 34 |
22829249 | Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? | 2013 Aug |
1 |
| 35 |
23103552 | Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome. | 2013 Feb |
11 |
| 36 |
23622117 | Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series. | 2013 Apr 26 |
1 |
| 37 |
21830319 | Variable human phenotype associated with novel deletions of the PHOX2B gene. | 2012 Feb |
1 |
| 38 |
21964250 | In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins. | 2012 Jan |
2 |
| 39 |
22278185 | Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. | 2012 Mar |
2 |
| 40 |
22307522 | The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. | 2012 Sep |
3 |
| 41 |
22437207 | Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. | 2012 May |
1 |
| 42 |
22440308 | [The congenital central hypoventilation syndrome (CCHS): a late presentation]. | 2012 Mar |
1 |
| 43 |
22674249 | Congenital central hypoventilation syndrome with PHOX2B gene mutation. | 2012 Nov |
2 |
| 44 |
22821709 | Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). | 2012 Sep |
1 |
| 45 |
23045564 | A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. | 2012 Nov |
1 |
| 46 |
21286029 | Haddad syndrome with PHOX2B gene mutation in a Korean infant. | 2011 Feb |
1 |
| 47 |
21373876 | PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature. | 2011 Oct |
3 |
| 48 |
22125732 | Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene. | 2011 Sep |
2 |
| 49 |
19881470 | Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. | 2010 Jan |
3 |
| 50 |
19888871 | PHOX2B immunolocalization of the candidate human retrotrapezoid nucleus. | 2010 Jul-Aug |
1 |