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Items: 14

1.
Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
Giovanna Carnovale-Scalzo, Adriano Carnevali, Gabriele Piccoli, Domenico Ceravolo, Donatella Bruzzichessi, Rodolfo Iuliano, Rossana Tallerico, Valentina Gatti, Giuseppe Giannaccare, Vincenzo Scorcia
BMC Ophthalmol. 2021; 21: 284. Published online 2021 Jul 23. doi: 10.1186/s12886-021-02037-8
Correction in:
BMC Ophthalmol. 2024; 24: 26.
PMCID:
PMC8299653
ArticlePDF–2.2M
2.
The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
Takaaki Hayashi, Satoshi Katagiri, Daiki Kubota, Kei Mizobuchi, Yozo Ishiuji, Akihiko Asahina, Shuhei Kameya, Tadashi Nakano
Mol Genet Genomic Med. 2021 Jun; 9(6): e1688. Published online 2021 Apr 9. doi: 10.1002/mgg3.1688
PMCID:
PMC8222849
ArticlePDF–1.7M
3.
Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Azhar Ahmed, Azhar Alali, Osama Alsharif, Adnan Kaki
Skin Appendage Disord. 2021 Jan; 7(1): 75–79. Published online 2020 Dec 15. doi: 10.1159/000511741
PMCID:
PMC7879292
ArticlePDF–682K
4.
Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy
Akshay Narayan, Mariya Moosajee
BMJ Case Rep. 2019; 12(10): e232342. Published online 2019 Oct 23. doi: 10.1136/bcr-2019-232342
PMCID:
PMC6827737
ArticlePDF–286K
5.
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
Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, Soheila Sotudeh, Meisam Sargazi, Sirous Zeinali, Jouni Uitto
Mol Genet Genomic Med. 2019 Nov; 7(11): e975. Published online 2019 Sep 27. doi: 10.1002/mgg3.975
PMCID:
PMC6825862
ArticlePDF–1.0M
6.
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
Kenneth C. Fan, Nimesh A. Patel, Nicolas A. Yannuzzi, Supalert Prakhunhungsit, Catherin I. Negron, Elisa Basora, Andrew A. Colin, Mustafa Tekin, Audina M. Berrocal
Am J Ophthalmol Case Rep. 2019 Sep; 15: 100486. Published online 2019 Jun 5. doi: 10.1016/j.ajoc.2019.100486
PMCID:
PMC6579934
ArticlePDF–2.8M
7.
Hypotrichosis with Juvenile Macular Dystrophy
Filipa Tavares Almeida, Rui Carneiro-Freitas, Regina Caldas, Ana Paula Vieira
Int J Trichology. 2018 Sep-Oct; 10(5): 234–236. doi: 10.4103/ijt.ijt_60_18
PMCID:
PMC6290288
Article
8.
CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
Omer Karti, Saygin Abali, Ziya Ayhan, Eylem Gokmeydan, Serhad Nalcaci, Aylin Yaman, Ali Osman Saatci
Am J Ophthalmol Case Rep. 2017 Sep; 7: 129–133. Published online 2017 Jun 26. doi: 10.1016/j.ajoc.2017.06.007
PMCID:
PMC5722150
ArticlePDF–1.5M
9.
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton, Carmen Ayuso
BMC Med Genet. 2017; 18: 1. Published online 2017 Jan 7. doi: 10.1186/s12881-016-0364-5
PMCID:
PMC5219735
ArticlePDF–4.0M
10.
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy
Mandeep S. Singh, Suzanne Broadgate, Ranjana Mathur, Richard Holt, Stephanie Halford, Robert E. MacLaren
Sci Rep. 2016; 6: 23674. Published online 2016 May 9. doi: 10.1038/srep23674
PMCID:
PMC4860587
ArticlePDF–1.0M
11.
Mimicking hair disorders by genetic manipulation of organ cultured human hair follicles
Jiang Chen, Dennis R. Roop
J Invest Dermatol. Author manuscript; available in PMC 2013 Oct 1.
Published in final edited form as: J Invest Dermatol. 2012 Oct; 132(10): 2312–2314. doi: 10.1038/jid.2012.243
PMCID:
PMC3708693
ArticlePDF–432K
12.
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations
L. Basel-Vanagaite, M. Pasmanik-Chor, R. Lurie, A. Yeheskel, K.W. Kjaer
Mol Syndromol. 2011 May; 1(5): 223–230. Published online 2011 Apr 7. doi: 10.1159/000327156
PMCID:
PMC3214945
ArticlePDF–676K
13.
Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy
Y. Shimomura, M. Wajid, M. Kurban, A.M. Christiano
Dermatology. 2010 Apr; 220(3): 208–212. Published online 2010 Mar 5. doi: 10.1159/000275673
PMCID:
PMC2865484
ArticlePDF–265K
14.
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
K Kjaer, L Hansen, G Schwabe, A Marques-de-Faria, H Eiberg, S Mundlos, N Tommerup, T Rosenberg
J Med Genet. 2005 Apr; 42(4): 292–298. doi: 10.1136/jmg.2004.027821
PMCID:
PMC1736041
SummaryPDF–507K

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