266 related articles for article (PubMed ID: 29311329)
1. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.
Bélanger C; Bérubé-Simard FA; Leduc E; Bernas G; Campeau PM; Lalani SR; Martin DM; Bielas S; Moccia A; Srivastava A; Silversides DW; Pilon N
Proc Natl Acad Sci U S A; 2018 Jan; 115(4):E620-E629. PubMed ID: 29311329
[TBL] [Abstract][Full Text] [Related]
2. CHARGEd with neural crest defects.
Pauli S; Bajpai R; Borchers A
Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):478-486. PubMed ID: 29082625
[TBL] [Abstract][Full Text] [Related]
3. CHARGE syndrome-associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms.
Bélanger C; Cardinal T; Leduc E; Viger RS; Pilon N
FASEB J; 2022 Mar; 36(3):e22176. PubMed ID: 35129866
[TBL] [Abstract][Full Text] [Related]
4. Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.
Balow SA; Pierce LX; Zentner GE; Conrad PA; Davis S; Sabaawy HE; McDermott BM; Scacheri PC
Dev Biol; 2013 Oct; 382(1):57-69. PubMed ID: 23920116
[TBL] [Abstract][Full Text] [Related]
5. CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.
Yan S; Thienthanasit R; Chen D; Engelen E; Brühl J; Crossman DK; Kesterson R; Wang Q; Bouazoune K; Jiao K
Proc Natl Acad Sci U S A; 2020 Nov; 117(46):28847-28858. PubMed ID: 33127760
[No Abstract] [Full Text] [Related]
6. Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.
Gage PJ; Hurd EA; Martin DM
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):7923-30. PubMed ID: 26670829
[TBL] [Abstract][Full Text] [Related]
7. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
Hale CL; Niederriter AN; Green GE; Martin DM
Am J Med Genet A; 2016 Feb; 170A(2):344-354. PubMed ID: 26590800
[TBL] [Abstract][Full Text] [Related]
8. Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Ufartes R; Schwenty-Lara J; Freese L; Neuhofer C; Möller J; Wehner P; van Ravenswaaij-Arts CMA; Wong MTY; Schanze I; Tzschach A; Bartsch O; Borchers A; Pauli S
Hum Mol Genet; 2018 Apr; 27(8):1343-1352. PubMed ID: 29432577
[TBL] [Abstract][Full Text] [Related]
9. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
Zentner GE; Layman WS; Martin DM; Scacheri PC
Am J Med Genet A; 2010 Mar; 152A(3):674-86. PubMed ID: 20186815
[TBL] [Abstract][Full Text] [Related]
10. The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.
Sallis S; Bérubé-Simard FA; Grondin B; Leduc E; Azouz F; Bélanger C; Pilon N
Life Sci Alliance; 2023 Aug; 6(8):. PubMed ID: 37221016
[TBL] [Abstract][Full Text] [Related]
11. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
Siavrienė E; Petraitytė G; Mikštienė V; Rančelis T; Maldžienė Ž; Morkūnienė A; Byčkova J; Utkus A; Kučinskas V; Preikšaitienė E
BMC Med Genet; 2019 Jul; 20(1):127. PubMed ID: 31315586
[TBL] [Abstract][Full Text] [Related]
12. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.
Meisner JK; Martin DM
Am J Med Genet C Semin Med Genet; 2020 Mar; 184(1):81-89. PubMed ID: 31833191
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Sanlaville D; Etchevers HC; Gonzales M; Martinovic J; Clément-Ziza M; Delezoide AL; Aubry MC; Pelet A; Chemouny S; Cruaud C; Audollent S; Esculpavit C; Goudefroye G; Ozilou C; Fredouille C; Joye N; Morichon-Delvallez N; Dumez Y; Weissenbach J; Munnich A; Amiel J; Encha-Razavi F; Lyonnet S; Vekemans M; Attié-Bitach T
J Med Genet; 2006 Mar; 43(3):211-217. PubMed ID: 16169932
[TBL] [Abstract][Full Text] [Related]
14. Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
Bergman JE; Bosman EA; van Ravenswaaij-Arts CM; Steel KP
Eur J Hum Genet; 2010 Feb; 18(2):171-7. PubMed ID: 19809474
[TBL] [Abstract][Full Text] [Related]
15. Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.
Whittaker DE; Kasah S; Donovan APA; Ellegood J; Riegman KLH; Volk HA; McGonnell I; Lerch JP; Basson MA
Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):n/a. PubMed ID: 29168327
[TBL] [Abstract][Full Text] [Related]
16. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
Schulz Y; Wehner P; Opitz L; Salinas-Riester G; Bongers EM; van Ravenswaaij-Arts CM; Wincent J; Schoumans J; Kohlhase J; Borchers A; Pauli S
Hum Genet; 2014 Aug; 133(8):997-1009. PubMed ID: 24728844
[TBL] [Abstract][Full Text] [Related]
17. Inappropriate p53 activation during development induces features of CHARGE syndrome.
Van Nostrand JL; Brady CA; Jung H; Fuentes DR; Kozak MM; Johnson TM; Lin CY; Lin CJ; Swiderski DL; Vogel H; Bernstein JA; Attié-Bitach T; Chang CP; Wysocka J; Martin DM; Attardi LD
Nature; 2014 Oct; 514(7521):228-32. PubMed ID: 25119037
[TBL] [Abstract][Full Text] [Related]
18. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE; Janssen N; Hoefsloot LH; Jongmans MC; Hofstra RM; van Ravenswaaij-Arts CM
J Med Genet; 2011 May; 48(5):334-42. PubMed ID: 21378379
[TBL] [Abstract][Full Text] [Related]
19. The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline.
Jiang X; Zhou Y; Xian L; Chen W; Wu H; Gao X
Am J Pathol; 2012 Aug; 181(2):626-41. PubMed ID: 22658483
[TBL] [Abstract][Full Text] [Related]
20. Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.
Lee SJ; Chae JH; Lee JA; Cho SI; Seo SH; Park H; Seong MW; Park SS
Ann Lab Med; 2015 Jan; 35(1):141-5. PubMed ID: 25553296
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
