Results 41 to 50 of about 466 (140)

Nevus of Ota: clinical-ophthalmological findings

Revista Brasileira de Oftalmologia, 2011
OBJECTIVE: To analyze the clinical and ophthalmological findings of patients with nevus of Ota. METHODS: Retrospective analysis of patients' charts with nevus of Ota.
Sebastião Cronemberger, Nassim Calixto, Henrique Leite Freitas   +2 more
doaj   +1 more source

Next‐generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss

Molecular Genetics &Genomic Medicine, Volume 8, Issue 12, December 2020., 2020
In the present study, we examined clinical and molecular data from 21 Chinese deaf families and molecular diagnosis was made in 14 of 21 families. The results identified a number of novel and previously reported mutations in rare deafness‐causing genes.
Yan‐Bao Xiang, Chen‐Yang Xu, Yun‐Zhi Xu, Huan‐Zheng Li, Li‐Li Zhou, Xue‐Qin Xu, Zi‐Hui Chen, Shao‐Hua Tang   +7 more
wiley   +1 more source

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

BMC Pediatrics, 2021
Background Waardenburg syndrome (WS) is a rare genetic disorder. The purpose of this study was to investigate clinical and molecular characteristics of WS in four probands from four different Iranian families.
Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati   +6 more
doaj   +1 more source

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

Molecular Genetics &Genomic Medicine, Volume 8, Issue 3, March 2020., 2020
We identified six novel variants in MITF and SOX10 gene which predicted to be disease causing by in silico analysis. Our results showed that mutations in SOX10 and MITF are two major causes for deafness associated with WS, and de novo mutations were frequently found in probands with SOX10 mutations (3/4) but not in those with MITF mutations (0/2 ...
Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi   +6 more
wiley   +1 more source

Post-thyroidectomy iatrogenic Horner's syndrome with heterochromia

Journal of Current Ophthalmology, 2016
Purpose: To present a case of iatrogenic Horner's syndrome seen together with the heterochromia in the post-thyroidectomy period. Methods: A 23-year-old female patient was admitted to our clinic with complaints of low vision in the eye and difference in ...
Mahmut Oğuz Ulusoy, Sertaç Argun Kıvanç, Mehmet Atakan, Hüseyin Mayalı   +3 more
doaj   +1 more source

A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle

BMC Genetics, 2017
Background Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described.
Anne K. Hollmann, Martina Bleyer, Andrea Tipold, Jasmin N. Neßler, Wilhelm E. Wemheuer, Ekkehard Schütz, Bertram Brenig   +6 more
doaj   +1 more source

The Interconnected World of Dermatology and Ophthalmology

JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.
Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore, Surajit Gorai, Gitikash Purkayastha, Kinnor Das, Prajwal Pudasaini   +4 more
wiley   +1 more source

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next‐Generation Sequencing

Neural Plasticity, Volume 2019, Issue 1, 2019., 2019
Background. Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features. Methods. The technology of single‐nucleotide variants (SNV) and copy number variation (CNV) detection was developed to investigate the genotype spectrum of WS in a Chinese ...
Wu Li, Lingyun Mei, Hongsheng Chen, Xinzhang Cai, Yalan Liu, Meichao Men, Xue Zhong Liu, Denise Yan, Jie Ling, Yong Feng, Jolanta Dorszewska   +10 more
wiley   +1 more source

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Scientifica, Volume 2017, Issue 1, 2017., 2017
Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described
Siti W. Mohd-Zin, Ahmed I. Marwan, Mohamad K. Abou Chaar, Azlina Ahmad-Annuar, Noraishah M. Abdul-Aziz, Heinz Hofler   +5 more
wiley   +1 more source

Genetic insights into Tietz albinism‐deafness syndrome: A new dominant‐negative mutation in MITF

Pigment Cell &Melanoma Research, Volume 37, Issue 4, Page 430-437, July 2024.
We uncovered a previously unreported c.637G>C (p.Glu213Gln) mutation in the MITF in a patient with Tietz albinism‐deafness syndrome (TADS), elucidating its genetic and clinical significance. The combined results from histopathological examination, transmission electron microscopy analysis, and melanin quantification underscored the substantial ...
Kohei Yamamoto, Ken Okamura, Kazumasa Wakamatsu, Shosuke Ito, Kozue Akabane, Yosuke Arai, Junnosuke Kawaguchi, Yutaka Hozumi, Tamio Suzuki   +8 more
wiley   +1 more source