130 related articles for article (PubMed ID: 31718366)
1. Hypotrichosis with juvenile macular dystrophy.
Oliveira-Ferreira C; Leuzinger-Dias M; Tavares-Ferreira J; Silva SE; Brandão E; Falcão-Reis F; Rocha-Sousa A
Ophthalmic Genet; 2019 Dec; 40(6):574-577. PubMed ID: 31718366
[No Abstract] [Full Text] [Related]
2. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
Saeidian AH; Vahidnezhad H; Youssefian L; Sotudeh S; Sargazi M; Zeinali S; Uitto J
Mol Genet Genomic Med; 2019 Nov; 7(11):e975. PubMed ID: 31560841
[TBL] [Abstract][Full Text] [Related]
3. Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.
Schauren JS; Torres ACMBG; de Almeida RC; Santos PSC; Mulinari-Brenner F; Lima LH; Zago Filho LA; Shiokawa N; Bicalho MDG; Sato MT
Clin Genet; 2020 Mar; 97(3):529-531. PubMed ID: 31696509
[No Abstract] [Full Text] [Related]
4. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
Blanco-Kelly F; Rodrigues-Jacy da Silva L; Sanchez-Navarro I; Riveiro-Alvarez R; Lopez-Martinez MA; Corton M; Ayuso C
BMC Med Genet; 2017 Jan; 18(1):1. PubMed ID: 28061825
[TBL] [Abstract][Full Text] [Related]
5. Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.
Ahmad F; Ali RH; Muhammad D; Nasir A; Umair M; Wakil SM; Ramzan K; Basit S; Ahmad W
Eur J Dermatol; 2016 Dec; 26(6):610-612. PubMed ID: 27456782
[No Abstract] [Full Text] [Related]
6. A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.
Kamran-ul-Hassan Naqvi S; Azeem Z; Ali G; Ahmad W
Arch Dermatol Res; 2010 Nov; 302(9):701-3. PubMed ID: 20140736
[TBL] [Abstract][Full Text] [Related]
7. A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.
Avitan-Hersh E; Indelman M; Khamaysi Z; Leibu R; Bergman R
Int J Dermatol; 2012 Mar; 51(3):325-7. PubMed ID: 22348569
[No Abstract] [Full Text] [Related]
8. Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.
Halford S; Holt R; Németh AH; Downes SM
Arch Ophthalmol; 2012 Nov; 130(11):1490-2. PubMed ID: 23143461
[No Abstract] [Full Text] [Related]
9. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Hull S; Arno G; Robson AG; Broadgate S; Plagnol V; McKibbin M; Halford S; Michaelides M; Holder GE; Moore AT; Khan KN; Webster AR
JAMA Ophthalmol; 2016 Sep; 134(9):992-1000. PubMed ID: 27386845
[TBL] [Abstract][Full Text] [Related]
10. A case of hypotrichosis with juvenile macular dystrophy.
Mason JO; Patel SA
Retin Cases Brief Rep; 2015; 9(2):164-7. PubMed ID: 25621871
[TBL] [Abstract][Full Text] [Related]
11. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
Vicente LP; Finzi S; Susanna R; Young TL
Arq Bras Oftalmol; 2017; 80(1):49-51. PubMed ID: 28380103
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
Khan AO; Bolz HJ
Ophthalmic Genet; 2016 Sep; 37(3):301-6. PubMed ID: 26885695
[TBL] [Abstract][Full Text] [Related]
13. The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.
Hayashi T; Katagiri S; Kubota D; Mizobuchi K; Ishiuji Y; Asahina A; Kameya S; Nakano T
Mol Genet Genomic Med; 2021 Jun; 9(6):e1688. PubMed ID: 33837674
[TBL] [Abstract][Full Text] [Related]
14. Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
Nasser F; Mulahasanovic L; Alkhateeb M; Biskup S; Stingl K; Zrenner E
Doc Ophthalmol; 2019 Apr; 138(2):153-160. PubMed ID: 30710256
[TBL] [Abstract][Full Text] [Related]
15. Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
Shimomura Y; Wajid M; Kurban M; Christiano AM
Dermatology; 2010; 220(3):208-12. PubMed ID: 20203473
[TBL] [Abstract][Full Text] [Related]
16. Hypotrichosis with juvenile macular dystrophy with novel mutations in CDH3 gene.
Liu Y; Xu Z; Sun Y; Zhang B; Wang X; Ma L
Australas J Dermatol; 2024 Feb; 65(1):91-94. PubMed ID: 37850495
[No Abstract] [Full Text] [Related]
17. Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
Souied E; Amalric P; Chauvet ML; Chevallier C; Le Hoang P; Munnich A; Kaplan J
Ophthalmic Genet; 1995 Mar; 16(1):11-5. PubMed ID: 7648037
[TBL] [Abstract][Full Text] [Related]
18. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy.
Ren Y; Liu J; Yao D; Hua H; Guo X; Dai H; Dang N; Huang Y; Yu D
Chin Med J (Engl); 2022 Jun; 135(12):1503-1505. PubMed ID: 35853629
[No Abstract] [Full Text] [Related]
19. Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
Singh MS; Broadgate S; Mathur R; Holt R; Halford S; MacLaren RE
Sci Rep; 2016 May; 6():23674. PubMed ID: 27157923
[TBL] [Abstract][Full Text] [Related]
20. Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy.
Leal-Rodríguez R; Barragán-Arévalo T; Pérez-Torres A; Giraldo-Gómez DM; Zenteno JC
Clin Dysmorphol; 2023 Apr; 32(2):62-64. PubMed ID: 36779776
[No Abstract] [Full Text] [Related]
[Next] [New Search]