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Ophthalmic Genetics Volume 34, 2013 - Issue 1-2
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Case Reports

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder

Khaled K. Abu-AmeroCorrespondence[email protected]
,
Altaf A. KondkarDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
,
Mustafa A. M. SalihDepartment of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
,
Ibrahim A. AlorainyDepartment of Radiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
,
Arif O. KhanKing Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
,
Darren T. OystreckDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
&
Thomas M. BosleyDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
 show all
Pages 90-96 | Received 27 Jun 2012, Accepted 31 Jul 2012, Published online: 06 Sep 2012

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Khaled K. Abu-Amero, Altaf A. Kondkar & Arif O. Khan. (2016) Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma. Ophthalmic Genetics 37:1, pages 98-101.
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Khaled K. Abu-Amero, Thomas M. Bosley, Altaf A. Kondkar, Darren T. Oystreck & Arif O. Khan. (2015) CCDD Phenotype Associated with a Small Chromosome 2 Deletion. Seminars in Ophthalmology 30:5-6, pages 435-442.
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Khaled K. Abu-Amero, Altaf A. Kondkar, Darren T. Oystreck, Arif O. Khan & Thomas M. Bosley. (2014) Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome. Ophthalmic Genetics 35:3, pages 162-169.
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Articles from other publishers (13)

Wiljan J. A. J. Hendriks, Remco T. P. van Cruchten & Rafael Pulido. (2023) Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?. Frontiers in Cell and Developmental Biology 10.
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Tiezhu Kang, Jing Ye, Ping Qin, Hailing Li, Zhiqiu Yao, Ya Liu, Yinghui Ling, Yunhai Zhang, Tong Yu, Hongguo Cao, Yunsheng Li, Juhua Wang & Fugui Fang. (2021) Knockdown of Ptprn-2 delays the onset of puberty in female rats. Theriogenology 176, pages 137-148.
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Jing Ye, Yan Wen, Xifang Sun, Xiaomeng Chu, Ping Li, Bolun Cheng, Shiqiang Cheng, Li Liu, Lu Zhang, Mei Ma, Xin Qi, Chujun Liang, Om Prakash Kafle, Yumeng Jia, Cuiyan Wu, Sen Wang, Xi Wang, Yujie Ning, Shiquan Sun & Feng Zhang. (2021) Socioeconomic Deprivation Index Is Associated With Psychiatric Disorders: An Observational and Genome-wide Gene-by-Environment Interaction Analysis in the UK Biobank Cohort. Biological Psychiatry 89:9, pages 888-895.
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Yuguang Niu, Chengyong Xie, Zhenhua Du, Jifeng Zeng, Hongxia Chen, Liang Jin, Qing Zhang, Huiying Yu, Yahui Wang, Jie Ping, Chenning Yang, Xinyi Liu, Yuanfeng Li & Gangqiao Zhou. (2020) Genome‐wide association study identifies 7q11.22 and 7q36.3 associated with noise‐induced hearing loss among Chinese population. Journal of Cellular and Molecular Medicine 25:1, pages 411-420.
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Khaled K. Abu-Amero, Altaf A. Kondkar & Arif O. Khan. (2017) A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles. BMC Research Notes 10:1.
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Elif Demirkilinc Biler, Orhan Ilim, Huseyin Onay & Onder Uretmen. (2017) CHN1 gene mutation analysis in patients with Duane retraction syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus 21:6, pages 472-475.e2.
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Anupam Singh, P. K. Pandey, Ajai Agrawal, Sanjeev Kumar Mittal, Kartik Maheshbhai Rana & Chirag Bahuguna. (2016) Congenital cranial dysinnervation disorders. International Ophthalmology 37:6, pages 1369-1381.
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Khaled K. Abu-Amero, Arif O. Khan, Darren T. Oystreck, Altaf A. Kondkar & Thomas M. Bosley. (2016) The genetics of nonsyndromic bilateral Duane retraction syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus 20:5, pages 396-400.e2.
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José J. Ramírez-Franco, Francisco J. Munoz-Cuevas, Rafael Luján & Sandra Jurado. (2016) Excitatory and Inhibitory Neurons in the Hippocampus Exhibit Molecularly Distinct Large Dense Core Vesicles. Frontiers in Cellular Neuroscience 10.
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Michael C. BrodskyMichael C. Brodsky. 2016. Pediatric Neuro-Ophthalmology. Pediatric Neuro-Ophthalmology 325 391 .
Dylan A. Mordaunt, Liam C. McIntyre, Hayley Salvemini, Afdal Ibrahim, Drago Bratkovic, David Ketteridge, Hamish S. Scott, Karin S. Kassahn & Nicholas Smith. (2015) Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy. American Journal of Medical Genetics Part A 167:11, pages 2697-2701.
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R. Pulido, A. W. Stoker & W. J. A. J. Hendriks. (2013) PTPs emerge as PIPs: protein tyrosine phosphatases with lipid-phosphatase activities in human disease. Human Molecular Genetics 22:R1, pages R66-R76.
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Thomas M. Bosley, Khaled K. Abu-Amero & Darren T. Oystreck. (2013) Congenital cranial dysinnervation disorders. Current Opinion in Ophthalmology 24:5, pages 398-406.
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