Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis
Authors
Keywords
-
Journal
HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Nature America, Inc
Online
2018-09-21
DOI
10.1007/s00439-018-1935-7
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- FOXE3 mutations: genotype-phenotype correlations
- (2018) J. Plaisancié et al. CLINICAL GENETICS
- Congenital glaucoma and CYP1B1: an old story revisited
- (2018) Hessa S. Alsaif et al. HUMAN GENETICS
- New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
- (2018) Fabiola Ceroni et al. HUMAN GENETICS
- Mutation update of transcription factor genes FOXE3 , HSF4 , MAF , and PITX3 causing cataracts and other developmental ocular defects
- (2018) Deepti Anand et al. HUMAN MUTATION
- Angiopoietin-1 is required for Schlemm’s canal development in mice and humans
- (2017) Benjamin R. Thomson et al. JOURNAL OF CLINICAL INVESTIGATION
- Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
- (2016) Sek-Shir Cheong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PITX2 loss-of-function mutation contributes to tetralogy of Fallot
- (2016) Yu-Min Sun et al. GENE
- FOXE3 mutations predispose to thoracic aortic aneurysms and dissections
- (2016) Shao-Qing Kuang et al. JOURNAL OF CLINICAL INVESTIGATION
- Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity
- (2016) Tomokazu Souma et al. JOURNAL OF CLINICAL INVESTIGATION
- Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases
- (2016) Antara Banerjee et al. PLoS One
- FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1
- (2016) Shahid Y. Khan et al. Nature Communications
- Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
- (2015) Cristina Medina-Trillo et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
- (2015) Marije E. C. Meuwissen et al. GENETICS IN MEDICINE
- Variants inTRIM44Cause Aniridia by ImpairingPAX6Expression
- (2015) Xibo Zhang et al. HUMAN MUTATION
- Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease
- (2015) Lily Islam et al. HUMAN MUTATION
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
- (2015) Anthony A. Philippakis et al. HUMAN MUTATION
- Whole exome sequence analysis of Peters anomaly
- (2014) Eric Weh et al. HUMAN GENETICS
- Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils
- (2014) Tadashi Inoue et al. HUMAN MOLECULAR GENETICS
- Novel Genetic Markers Associate With Atrial Fibrillation Risk in Europeans and Japanese
- (2014) Steven A. Lubitz et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- A Novel Mutation ofFOXC1(R127L) in an Axenfeld–Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases
- (2014) Rui-Feng Du et al. OPHTHALMIC GENETICS
- Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
- (2014) Hannah Verdin et al. Orphanet Journal of Rare Diseases
- Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice
- (2014) Kenta Wada et al. PLoS One
- Mutations in PIK3R1 Cause SHORT Syndrome
- (2013) David A. Dyment et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling
- (2013) Kishan Kumar Chudasama et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PIK3R1mutations in SHORT syndrome
- (2013) C. Schroeder et al. CLINICAL GENETICS
- Connexin Mutants and Cataracts
- (2013) Eric C. Beyer et al. Frontiers in Pharmacology
- Cardiac anomalies in Axenfeld-Rieger syndrome due to a novelFOXC1mutation
- (2012) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- PITX2 and FOXC1 spectrum of mutations in ocular syndromes
- (2012) Linda M Reis et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix
- (2012) Ramona Haji-Seyed-Javadi et al. HUMAN MUTATION
- Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
- (2011) Kamron Khan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Peters Anomaly: Review of the Literature
- (2011) Ramanath Bhandari et al. CORNEA
- Genetics of anterior segment dysgenesis disorders
- (2011) Linda M. Reis et al. CURRENT OPINION IN OPHTHALMOLOGY
- Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma
- (2011) Ni Li et al. EXPERIMENTAL EYE RESEARCH
- NOTCH2mutations in Alagille syndrome
- (2011) Binita Maya Kamath et al. JOURNAL OF MEDICAL GENETICS
- FOXE3plays a significant role in autosomal recessive microphthalmia
- (2010) Linda M. Reis et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
- (2010) Dimitar N Azmanov et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia and secondary glaucoma
- (2010) Julie Désir et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Alagille Syndrome: Clinical and Ocular Pathognomonic Features
- (2010) Nehal M. El-Koofy et al. EUROPEAN JOURNAL OF OPHTHALMOLOGY
- A homozygous mutation in LTBP2 causes isolated microspherophakia
- (2010) Arun Kumar et al. HUMAN GENETICS
- A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly
- (2010) K. Aliferis et al. OPHTHALMIC GENETICS
- Lens Gap Junctions in Growth, Differentiation, and Homeostasis
- (2010) Richard T. Mathias et al. PHYSIOLOGICAL REVIEWS
- Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
- (2009) Manir Ali et al. AMERICAN JOURNAL OF HUMAN GENETICS
- NovelB3GALTLmutation in Peters-plus Syndrome
- (2009) J Dassie-Ajdid et al. CLINICAL GENETICS
- Pitx3 controls multiple aspects of lens development
- (2009) Olga Medina-Martinez et al. DEVELOPMENTAL DYNAMICS
- Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
- (2009) Zeynep Tümer et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
- (2009) Mehrnaz Narooie-Nejad et al. HUMAN MOLECULAR GENETICS
- Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies
- (2009) Sibel Ugur Iseri et al. HUMAN MUTATION
- Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 416insG mice
- (2009) Michael Rosemann et al. MAMMALIAN GENOME
- Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia
- (2008) David O. Robinson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Homeodomain protein Pitx3 maintains the mitotic activity of lens epithelial cells
- (2008) Hsin-Yi Ho et al. MECHANISMS OF DEVELOPMENT
- Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations
- (2008) Nisha Limaye et al. NATURE GENETICS
- Iris development in vertebrates; genetic and molecular considerations
- (2007) Noa Davis-Silberman et al. BRAIN RESEARCH
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started