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Items: 1 to 20 of 242

1.
Congenital Horner Syndrome with Heterochromia Iridis Associated with Ipsilateral Internal Carotid Artery Hypoplasia
Fabrice C. Deprez, Julie Coulier, Denis Rommel, Antonella Boschi
J Clin Neurol. 2015 Apr; 11(2): 192–196. Published online 2014 Nov 11. doi: 10.3988/jcn.2015.11.2.192
PMCID:
PMC4387487
AbstractArticlePDF–2.0M
2.
A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?
Aslihan Yonca Kocak, Oguzhan Kocak
Int J Trichology. 2015 Jul-Sep; 7(3): 123–124. doi: 10.4103/0974-7753.167470
PMCID:
PMC4639956
AbstractArticle
3.
Heterochromia irides and mistaken identity of retinoblastoma
Moh'd Saleh Abu-Ain, Raed Shatnawi, Yacoub A Yousef, Patrick Watts
BMJ Case Rep. 2019; 12(10): e231091. Published online 2019 Oct 25. doi: 10.1136/bcr-2019-231091
PMCID:
PMC6827771
AbstractArticlePDF–544K
4.
A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy
Nozomu Matsuda, Koushi Ootsuki, Shunsuke Kobayashi, Ayaka Nemoto, Hitoshi Kubo, Shin-ichi Usami, Kazuaki Kanani
BMC Neurol. 2021; 21: 243. Published online 2021 Jun 25. doi: 10.1186/s12883-021-02256-y
PMCID:
PMC8228911
AbstractArticlePDF–1.6M
5.
A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
Sijun Li, Mengyao Qin, Shuang Mao, Lingyun Mei, Xinzhang Cai, Yong Feng, Chufeng He, Jian Song
BMC Med Genomics. 2022; 15: 230. Published online 2022 Nov 3. doi: 10.1186/s12920-022-01379-6
PMCID:
PMC9632049
AbstractArticlePDF–3.5M
6.
Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Mohammad Keramatipour, Saeid Morovvati
BMC Med Genomics. 2021; 14: 230. Published online 2021 Sep 20. doi: 10.1186/s12920-021-01074-y
PMCID:
PMC8451132
AbstractArticlePDF–1.1M
7.
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
Jing Wang, Yu Lu, Xiaohong Yan, Tian Shen, Linke Li, Yufang Rao, Bo Tan, Wenyu Xiong, Jing Cheng, Yu Zhao, Huijun Yuan
Mol Genet Genomic Med. 2021 Sep; 9(9): e1770. Published online 2021 Jul 29. doi: 10.1002/mgg3.1770
PMCID:
PMC8457691
AbstractArticlePDF–973K
8.
A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle
Anne K. Hollmann, Martina Bleyer, Andrea Tipold, Jasmin N. Neßler, Wilhelm E. Wemheuer, Ekkehard Schütz, Bertram Brenig
BMC Genet. 2017; 18: 30. Published online 2017 Mar 29. doi: 10.1186/s12863-017-0496-4
PMCID:
PMC5372310
AbstractArticlePDF–1.2M
9.
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati
BMC Pediatr. 2021; 21: 70. Published online 2021 Feb 8. doi: 10.1186/s12887-021-02521-6
PMCID:
PMC7869501
AbstractArticlePDF–1.3M
10.
A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report
Vera Splittstösser, Felix Schreiner, Bettina Gohlke, Maik Welzel, Paul-Martin Holterhus, Joachim Woelfle
BMC Endocr Disord. 2019; 19: 116. Published online 2019 Oct 30. doi: 10.1186/s12902-019-0448-2
PMCID:
PMC6821031
AbstractArticlePDF–603K
11.
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
Jing Ma, Ken Lin, Hong‐chao Jiang, Yanli Yang, Yu Zhang, Guilian Yang, Hao Sun, Cheng Ming, Xianyun Bi, Tiesong Zhang, Biao Ruan
Mol Genet Genomic Med. 2019 Jul; 7(7): e00798. Published online 2019 Jun 12. doi: 10.1002/mgg3.798
PMCID:
PMC6625151
AbstractArticlePDF–1015K
12.
Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report
Li Zhang, Yue Wan, Ningli Wang
J Med Case Rep. 2022; 16: 264. Published online 2022 Jul 6. doi: 10.1186/s13256-022-03460-1
PMCID:
PMC9258067
AbstractArticlePDF–2.4M
13.
A MITF Mutation Associated with a Dominant White Phenotype and Bilateral Deafness in German Fleckvieh Cattle
Ute Philipp, Bettina Lupp, Stefanie Mömke, Veronika Stein, Andrea Tipold, Johanna Corinna Eule, Jürgen Rehage, Ottmar Distl
PLoS One. 2011; 6(12): e28857. Published online 2011 Dec 12. doi: 10.1371/journal.pone.0028857
PMCID:
PMC3236222
AbstractArticlePDF–1.1M
14.
Glaucoma in Fuchs' heterochromic cyclitis associated with congenital Horner's syndrome.
L S Regenbogen, N Naveh-Floman
Br J Ophthalmol. 1987 Nov; 71(11): 844–849. doi: 10.1136/bjo.71.11.844
PMCID:
PMC1041322
SummaryPage BrowsePDF–987K
15.
A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients
Nazanin Jalilian, Mohammad Amin Tabatabaiefar, Mahboubeh Yazdanpanah, Elham Darabi, Tayyeb Bahrami, Ali Zekri, Mohammad Reza Noori-Daloii
Int J Mol Cell Med. 2018 Winter; 7(1): 17–23. Published online 2018 Mar 27. doi: 10.22088/IJMCM.BUMS.7.1.17
PMCID:
PMC6134422
AbstractArticlePDF–524K
16.
Birth palsy in congenital varicella syndrome: A lesson in anatomy
Ajeesh Sankaran, Praveen Bhardwaj, Hari Venkatramani, Shanmuganathan Raja Sabapathy
Indian J Plast Surg. 2018 May-Aug; 51(2): 238–242. doi: 10.4103/ijps.IJPS_56_18
PMCID:
PMC6219355
AbstractArticlePDF–883K
17.
Bilateral cochlear implantation in a child with Waardenburg syndrome: A case report
Xiaohui Wang, Lin Xu, Na Zhang, Ying Zhao
Front Pediatr. 2022; 10: 965884. Published online 2022 Sep 12. doi: 10.3389/fped.2022.965884
PMCID:
PMC9510376
AbstractArticlePDF–531K
18.
Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, Yi Dong, Ju-Yu Tang, Rong Xiang
Front Genet. 2021; 12: 705973. Published online 2021 Aug 11. doi: 10.3389/fgene.2021.705973
PMCID:
PMC8385755
AbstractArticlePDF–1.4M
19.
A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
Maram Alnefaie, Mona Jefri, Fayqah Almahmoudi
Am J Ophthalmol Case Rep. 2021 Sep; 23: 101150. Published online 2021 Jun 16. doi: 10.1016/j.ajoc.2021.101150
PMCID:
PMC8220324
AbstractArticlePDF–892K
20.
Waardenburg syndrome
Manish Mehta, Paresh Kavadu, Sachin Chougule
Indian J Otolaryngol Head Neck Surg. 2004 Oct; 56(4): 300–302. doi: 10.1007/BF02974395
PMCID:
PMC3451142
SummaryPDF–342K

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