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Katherine A. van Bysterveldt, Rasha al Taie, Will Ikink, Verity F. Oliver & Andrea L. Vincent. (2017) ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. Ophthalmic Genetics 38:6, pages 537-543.
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Laure Delhon, Valerie Cormier-Daire & Carine Le Goff. (2016) Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders: current evidence. Metalloproteinases in Medicine 3, pages 1-9.
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Articles from other publishers (13)
Ze‐Xu Chen, Wan‐Nan Jia, Yang Sun, Tian‐Hui Chen, Zhen‐Nan Zhao, Li‐Na Lan, Yan Liu, Ling‐Hao Song & Yong‐Xiang Jiang. (2022)
Biallelic
ADAMTSL4
variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships
. Human Mutation 43:12, pages 2141-2152.
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Junhong Zhao, You Zhou, Jing Zhang, Kejin Zhang, Lijun Shang & Junlin Li. (2022) Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae. Experimental Eye Research 224, pages 109243.
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Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts & Michael L. Cunningham. (2022) Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis. Case Reports in Genetics 2022, pages 1-8.
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А.А. Гусина, В.Ф. Иванова, А.С. Сталыбко, С.Н. Пашук & Н.Б. Гусина. (2021) Rare Observation of Isolated Autosomal Recessive Ectopia Lentis. Офтальмология. Восточная Европа:4, pages 544-554.
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Haseeb Akram, Jose Antonio Aragon-Martin & Aman Chandra. (2021) Marfan syndrome and the eye clinic: from diagnosis to management. Therapeutic Advances in Rare Disease 2, pages 263300402110557.
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Alexandra Topa, Anna Rohlin, Mattias K. Andersson, André Fehr, Lovisa Lovmar, Göran Stenman & Lars Kölby. (2019) NGS targeted screening of 100 Scandinavian patients with coronal synostosis. American Journal of Medical Genetics Part A 182:2, pages 348-356.
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Katia Fève, Sylvain Foissac, Alain Pinton, Florence Mompart, Diane Esquerré, Thomas Faraut, Martine Yerle & Juliette Riquet. (2017) Identification of a t(3;4)(p1.3;q1.5) translocation breakpoint in pigs using somatic cell hybrid mapping and high-resolution mate-pair sequencing. PLOS ONE 12:11, pages e0187617.
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E. Overwater, K. Floor, D. van Beek, K. de Boer, T. van Dijk, Y. Hilhorst-Hofstee, A.J.M. Hoogeboom, K.J. van Kaam, J.M. van de Kamp, M. Kempers, I.P.C. Krapels, H.Y. Kroes, B. Loeys, S. Salemink, C.T.R.M. Stumpel, V.J.M. Verhoeven, E. Wijnands-van den Berg, J.M. Cobben, J.P. van Tintelen, M.M. Weiss, A.C. Houweling & A. Maugeri. (2017) NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. European Journal of Medical Genetics 60:9, pages 465-473.
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Adela Wu & Megan E. Collins. (2015) Newer Understanding of Eye Issues in Craniofacial Malformations. Current Ophthalmology Reports 3:4, pages 225-231.
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Teresa M. Neuhann, Annette Stegerer, Angelika Riess, Edward Blair, Thomas Martin, Stefanie Wieser, Rüdiger Kläs, Arjan Bouman, Alma Kuechler & Olaf Rittinger. (2015) ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. American Journal of Medical Genetics Part A 167:10, pages 2376-2381.
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Gayle B. Collin, Dirk Hubmacher, Jeremy R. Charette, Wanda L. Hicks, Lisa Stone, Minzhong Yu, Jürgen K. Naggert, Mark P. Krebs, Neal S. Peachey, Suneel S. Apte & Patsy M. Nishina. (2015)
Disruption of murine
Adamtsl4
results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation
. Human Molecular Genetics, pages ddv399.
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Johanne Dubail & Suneel S. Apte. (2015) Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics. Matrix Biology 44-46, pages 24-37.
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Aman Chandra, Megan Jones, Phillippa Cottrill, Karen Eastlake, G Astrid Limb & David G Charteris. (2013) Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. British Journal of Ophthalmology 97:9, pages 1208-1212.
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