Associated Papers
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy.
Prieto LE et al.
Skin Appendage Disorders, 2025
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy.
Ren Y et al.
Chinese Medical Journal, 2022
The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report.
Al Zubi K et al.
Ophthalmic Genetics, 2022
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
Nasser F et al.
Ophthalmic Research, 2020
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 et al.
Molecular Genetics & Genomic Medicine, 2019
Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy.
Narayan A et al.
Bmj Case Reports, 2019
Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
Nasser F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2019
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation.
Karti O et al.
American Journal of Ophthalmology Case Reports, 2017
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Hull S et al.
Jama Ophthalmology, 2016
Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
Khan AO et al.
Ophthalmic Genetics, 2016
Hypotrichosis with juvenile macular dystrophy: Portuguese case.
Elfatoiki FZ et al.
Dermatology Online Journal, 2016
A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.
Avitan-Hersh E et al.
International Journal of Dermatology, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Cadherins as targets for genetic diseases.
El-Amraoui A et al.
Cold Spring Harbor Perspectives in Biology, 2010
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.
Basel-Vanagaite L et al.
Molecular Syndromology, 2010
A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.
Jelani M et al.
Clinical and Experimental Dermatology, 2009
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle.
Shimomura Y et al.
Development (cambridge, England), 2008
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
Indelman M et al.
Clinical and Experimental Dermatology, 2007
Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function.
Leibu R et al.
Ophthalmology, 2006
P-cadherin promotes cell-cell adhesion and counteracts invasion in human melanoma.
Van Marck V et al.
Cancer Research, 2005
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
Indelman M et al.
The British Journal of Dermatology, 2005
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
Kjaer KW et al.
Journal of Medical Genetics, 2005
Histopathology of hypotrichosis with juvenile macular dystrophy.
Bergman R et al.
The American Journal of Dermatopathology, 2004
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.
Indelman M et al.
The Journal of Investigative Dermatology, 2003
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
Indelman M et al.
The Journal of Investigative Dermatology, 2002
[Individualization of X-flavimaculated macular dystrophy in hereditary macular dystrophies].
François P et al.
Ophtalmologie : Organe De La Societe Francaise D'ophtalmologie, 0
Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
Vicente LP et al.
Arquivos Brasileiros De Oftalmologia, 0