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Ophthalmic Genetics Volume 34, 2013 - Issue 3
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Research Reports

Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

Lance DoucetteFaculty of Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland and LabradorCanada
,
Jane GreenFaculty of Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland and LabradorCanada
,
Coleman BlackFaculty of Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland and LabradorCanada
,
Jeremy SchwartzentruberMcGill University and Génome Québec Innovation Centre MontréalCanada
,
Gordon J. JohnsonFaculty of Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland and LabradorCanada
,
Dante GalutiraFaculty of Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland and LabradorCanada
&
Terry-Lynn YoungFaculty of Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland and LabradorCanadaCorrespondence[email protected]
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Pages 119-129 | Received 12 Sep 2012, Accepted 30 Dec 2012, Published online: 30 Jan 2013

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J. Maguire, M. McKibbin, K. Khan, S. Kohl, M. Ali & D. McKeefry. (2018) CNGB3 mutations cause severe rod dysfunction. Ophthalmic Genetics 39:1, pages 108-114.
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Vehap Topçu, Muhammed Yunus Alp, Cemile Kedici Alp, Abdullatif Bakır, Dilay Geylan & Meltem Özgül Yılmazoğlu. (2017) A new familial case of Jalili syndrome caused by a novel mutation in CNNM4. Ophthalmic Genetics 38:2, pages 161-166.
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John (Pei-Wen) Chiang & Michael B Gorin. (2016) Challenges confronting precision medicine in the context of inherited retinal disorders. Expert Review of Precision Medicine and Drug Development 1:2, pages 195-205.
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Articles from other publishers (13)

Yu Seby Chen & Kalle Gehring. (2023) New insights into the structure and function of CNNM proteins. The FEBS Journal 290:23, pages 5475-5495.
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Huajin Li, Yanfeng Huang, Jing Li & Maosong Xie. (2022) Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome . Molecular Genetics & Genomic Medicine 10:3.
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Lev Prasov, Ehsan Ullah, Amy E. Turriff, Blake M. Warner, Julie Conley, Paul R. Mark, Robert B. Hufnagel & Laryssa A. Huryn. (2020) Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort . American Journal of Medical Genetics Part A 182:3, pages 493-497.
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Rachayata Dharmat, Ruifang Sui & Rui Chen. 2020. Genetics and Genomics of Eye Disease. Genetics and Genomics of Eye Disease 71 93 .
Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar & Naveed Wasif. (2019) A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations . Molecular Genetics & Genomic Medicine 7:9.
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Yousef Daneshmandpour, Hossein Darvish, Fariba Pashazadeh & Babak Emamalizadeh. (2019) Features, genetics and their correlation in Jalili syndrome: a systematic review. Journal of Medical Genetics 56:6, pages 358-369.
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Paula Giménez-Mascarell, Irene González-Recio, Cármen Fernández-Rodríguez, Iker Oyenarte, Dominik Müller, María Martínez-Chantar & Luis Martínez-Cruz. (2019) Current Structural Knowledge on the CNNM Family of Magnesium Transport Mediators. International Journal of Molecular Sciences 20:5, pages 1135.
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Wenmin Sun & Qingjiong Zhang. 2019. G Protein Signaling Pathways in Health and Disease. G Protein Signaling Pathways in Health and Disease 1 27 .
Sisi Li, Quansheng Xi, Xiaoyu Zhang, Dong Yu, Lin Li, Zhenyang Jiang, Qiuyun Chen, Qing K. Wang & Elias I. Traboulsi. (2018) Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. Molecular Genetics and Genomics 293:3, pages 699-710.
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Imane Cherkaoui Jaouad, Jaber Lyahyai, Soukaina Guaoua, Mustapha El Alloussi, Abdelali Zrhidri, Yassamine Doubaj, Abdelkrim Boulanouar & Abdelaziz Sefiani. (2017) Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome. European Journal of Medical Genetics 60:5, pages 239-244.
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S Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami & H Darvish. (2016) A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. Eye 30:11, pages 1424-1432.
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Parth Purwar, Sagar Sareen, Kishlay Bhartiya, Sayyed Rayyan Sayed Inayatullah, Mayank Bansal, Vikas Chahal, Sanjiv K. Gupta, Jaya Dixit, Vaibhav Sheel & Priya Rai. (2015) Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 120:5, pages e210-e218.
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C Gerth-Kahlert, B Seebauer, S Dold, J V M Hanson, H Wildberger, A Spörri, H van Waes & W Berger. (2015) Intra-familial phenotype variability in patients with Jalili syndrome. Eye 29:5, pages 712-716.
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