352 related articles for article (PubMed ID: 29178447)
1. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Legendre M; Abadie V; Attié-Bitach T; Philip N; Busa T; Bonneau D; Colin E; Dollfus H; Lacombe D; Toutain A; Blesson S; Julia S; Martin-Coignard D; Geneviève D; Leheup B; Odent S; Jouk PS; Mercier S; Faivre L; Vincent-Delorme C; Francannet C; Naudion S; Mathieu-Dramard M; Delrue MA; Goldenberg A; Héron D; Parent P; Touraine R; Layet V; Sanlaville D; Quélin C; Moutton S; Fradin M; Jacquette A; Sigaudy S; Pinson L; Sarda P; Guerrot AM; Rossi M; Masurel-Paulet A; El Chehadeh S; Piguel X; Rodriguez-Ballesteros M; Ragot S; Lyonnet S; Bilan F; Gilbert-Dussardier B
Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):417-430. PubMed ID: 29178447
[TBL] [Abstract][Full Text] [Related]
2. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC; Admiraal RJ; van der Donk KP; Vissers LE; Baas AF; Kapusta L; van Hagen JM; Donnai D; de Ravel TJ; Veltman JA; Geurts van Kessel A; De Vries BB; Brunner HG; Hoefsloot LH; van Ravenswaaij CM
J Med Genet; 2006 Apr; 43(4):306-14. PubMed ID: 16155193
[TBL] [Abstract][Full Text] [Related]
3. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
Green GE; Huq FS; Emery SB; Mukherji SK; Martin DM
Otol Neurotol; 2014 Sep; 35(8):1466-70. PubMed ID: 24979395
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X; Yan K; Gao Y; Wang H; Chen G; Wu B; Qin Q; Yang L; Zhou W
BMC Med Genet; 2019 May; 20(1):93. PubMed ID: 31146700
[TBL] [Abstract][Full Text] [Related]
6. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
Wineland A; Menezes MD; Shimony JS; Shinawi MS; Hullar TE; Hirose K
JAMA Otolaryngol Head Neck Surg; 2017 Feb; 143(2):168-177. PubMed ID: 27832265
[TBL] [Abstract][Full Text] [Related]
7. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S; Sarfati J; Leroy C; Fouveaut C; Parent P; Metz C; Wolczynski S; Gérard M; Bieth E; Kurtz F; Verier-Mine O; Perrin L; Archambeaud F; Cabrol S; Rodien P; Hove H; Prescott T; Lacombe D; Christin-Maitre S; Touraine P; Hieronimus S; Dewailly D; Young J; Pugeat M; Hardelin JP; Dodé C
J Clin Endocrinol Metab; 2014 Oct; 99(10):E2138-43. PubMed ID: 25077900
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
Husu E; Hove HD; Farholt S; Bille M; Tranebjærg L; Vogel I; Kreiborg S
Clin Genet; 2013 Feb; 83(2):125-34. PubMed ID: 22462537
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
Aksel Kılıçarslan Ö; Ataman E; Gürsoy S; Hazan F; Randa C; Çankaya T; Erçal D; Ülgenalp A; Giray Bozkaya Ö
Turk J Med Sci; 2018 Oct; 48(5):911-915. PubMed ID: 30384553
[TBL] [Abstract][Full Text] [Related]
11. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
Wells C; Loundon N; Garabedian N; Wiener-Vacher S; Cordier-Bouvier MD; Goudeffroye G; Attié-Bitach T; Marlin S
Eur J Med Genet; 2016 Apr; 59(4):195-7. PubMed ID: 26921530
[TBL] [Abstract][Full Text] [Related]
12. Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
Michelucci A; Ghirri P; Iacopetti P; Conidi ME; Fogli A; Baldinotti F; Lunardi S; Forli F; Moscuzza F; Berrettini S; Boldrini A; Simi P; Pellegrini S
Int J Pediatr Otorhinolaryngol; 2010 Dec; 74(12):1441-4. PubMed ID: 20943277
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR; Safiullah AM; Fernbach SD; Harutyunyan KG; Thaller C; Peterson LE; McPherson JD; Gibbs RA; White LD; Hefner M; Davenport SL; Graham JM; Bacino CA; Glass NL; Towbin JA; Craigen WJ; Neish SR; Lin AE; Belmont JW
Am J Hum Genet; 2006 Feb; 78(2):303-14. PubMed ID: 16400610
[TBL] [Abstract][Full Text] [Related]
14. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Jyonouchi S; McDonald-McGinn DM; Bale S; Zackai EH; Sullivan KE
Pediatrics; 2009 May; 123(5):e871-7. PubMed ID: 19403480
[TBL] [Abstract][Full Text] [Related]
15. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M; Gonzales M; Goudefroye G; Bilan F; Parisot P; Perez MJ; Bonnière M; Bessières B; Martinovic J; Delezoide AL; Jossic F; Fallet-Bianco C; Bucourt M; Tantau J; Loget P; Loeuillet L; Laurent N; Leroy B; Salhi H; Bigi N; Rouleau C; Guimiot F; Quélin C; Bazin A; Alby C; Ichkou A; Gesny R; Kitzis A; Ville Y; Lyonnet S; Razavi F; Gilbert-Dussardier B; Vekemans M; Attié-Bitach T
J Med Genet; 2012 Nov; 49(11):698-707. PubMed ID: 23024289
[TBL] [Abstract][Full Text] [Related]
16. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Granadillo JL; Wegner DJ; Paul AJ; Willing M; Sisco K; Tedder ML; Sadikovic B; Wambach JA; Baldridge D; Cole FS;
Am J Med Genet A; 2021 Feb; 185(2):544-548. PubMed ID: 33184947
[TBL] [Abstract][Full Text] [Related]
17.
Driesen J; Van Hoecke H; Maes L; Janssens S; Acke F; De Leenheer E
Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790272
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R; Crowley WF
Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):507-515. PubMed ID: 29152903
[TBL] [Abstract][Full Text] [Related]
20. CHARGE syndrome in nine patients from China.
Cheng SSW; Luk HM; Chan DKH; Lo IFM
Am J Med Genet A; 2020 Jan; 182(1):15-19. PubMed ID: 31729160
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
