Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis

Dezso David, Deepti Anand, Carlos Araujo, Brian Gloss, Joana Fino, Marcel Dinger, Päivi Lindahl, Minna Pöyhönen, Hannele Laivuori, Joao Lavinha

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalExperimental Eye Research
Volume168
Pages (from-to)161-170
Number of pages10
ISSN0014-4835
DOIs
Publication statusPublished - Mar 2018
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Balanced chromosome translocation
  • Keratolenticular dysgenesis
  • Type 2 peters anomaly
  • Ectopia lentis
  • OAF
  • PVRL1
  • NECTIN1
  • Topologically associated domains (TADS)
  • CONGENITAL CORNEAL OPACIFICATION
  • ANTERIOR SEGMENT DYSGENESIS
  • MOLECULAR CHARACTERIZATION
  • FAMILIAL TRANSLOCATION
  • DISRUPTION
  • REARRANGEMENTS
  • PATHOGENESIS
  • EXPRESSION
  • DROSOPHILA
  • MUTATIONS
  • 3125 Otorhinolaryngology, ophthalmology

Cite this

David, Dezso ; Anand, Deepti ; Araujo, Carlos ; Gloss, Brian ; Fino, Joana ; Dinger, Marcel ; Lindahl, Päivi ; Pöyhönen, Minna ; Laivuori, Hannele ; Lavinha, Joao. / Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis. In: Experimental Eye Research. 2018 ; Vol. 168. pp. 161-170.
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title = "Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis",
keywords = "Balanced chromosome translocation, Keratolenticular dysgenesis, Type 2 peters anomaly, Ectopia lentis, OAF, PVRL1, NECTIN1, Topologically associated domains (TADS), CONGENITAL CORNEAL OPACIFICATION, ANTERIOR SEGMENT DYSGENESIS, MOLECULAR CHARACTERIZATION, FAMILIAL TRANSLOCATION, DISRUPTION, REARRANGEMENTS, PATHOGENESIS, EXPRESSION, DROSOPHILA, MUTATIONS, 3125 Otorhinolaryngology, ophthalmology",
author = "Dezso David and Deepti Anand and Carlos Araujo and Brian Gloss and Joana Fino and Marcel Dinger and P{\"a}ivi Lindahl and Minna P{\"o}yh{\"o}nen and Hannele Laivuori and Joao Lavinha",
year = "2018",
month = "3",
doi = "10.1016/j.exer.2017.12.012",
language = "English",
volume = "168",
pages = "161--170",
journal = "Experimental Eye Research",
issn = "0014-4835",
publisher = "ACADEMIC PRESS INC ELSEVIER SCIENCE",

}

Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis. / David, Dezso; Anand, Deepti; Araujo, Carlos; Gloss, Brian; Fino, Joana; Dinger, Marcel; Lindahl, Päivi; Pöyhönen, Minna; Laivuori, Hannele; Lavinha, Joao.

In: Experimental Eye Research, Vol. 168, 03.2018, p. 161-170.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis

AU - David, Dezso

AU - Anand, Deepti

AU - Araujo, Carlos

AU - Gloss, Brian

AU - Fino, Joana

AU - Dinger, Marcel

AU - Lindahl, Päivi

AU - Pöyhönen, Minna

AU - Laivuori, Hannele

AU - Lavinha, Joao

PY - 2018/3

Y1 - 2018/3

KW - Balanced chromosome translocation

KW - Keratolenticular dysgenesis

KW - Type 2 peters anomaly

KW - Ectopia lentis

KW - OAF

KW - PVRL1

KW - NECTIN1

KW - Topologically associated domains (TADS)

KW - CONGENITAL CORNEAL OPACIFICATION

KW - ANTERIOR SEGMENT DYSGENESIS

KW - MOLECULAR CHARACTERIZATION

KW - FAMILIAL TRANSLOCATION

KW - DISRUPTION

KW - REARRANGEMENTS

KW - PATHOGENESIS

KW - EXPRESSION

KW - DROSOPHILA

KW - MUTATIONS

KW - 3125 Otorhinolaryngology, ophthalmology

U2 - 10.1016/j.exer.2017.12.012

DO - 10.1016/j.exer.2017.12.012

M3 - Article

VL - 168

SP - 161

EP - 170

JO - Experimental Eye Research

JF - Experimental Eye Research

SN - 0014-4835

ER -