Cone dystrophy associated with autoimmune polyglandular syndrome type 1

[1]  G. Hageman,et al.  Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome , 2022, American journal of ophthalmology case reports.

[2]  J. Lupski,et al.  High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. , 2021, American journal of human genetics.

[3]  F. Alkuraya,et al.  Residual risk for additional recessive diseases in consanguineous couples , 2021, Genetics in Medicine.

[4]  Moustafa S. Magliyah,et al.  Long term keratits treatment with topical cyclosporin a in autoimmune polyglandular syndrome type 1 , 2021, American Journal of Ophthalmology Case Reports.

[5]  S. Yoshida,et al.  Ultra-Widefield OCT in Retinopathy of Autoimmune Polyendocrine Syndrome Type 1. , 2021, Ophthalmology Retina.

[6]  S. Yousaf,et al.  PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults , 2020, Investigative ophthalmology & visual science.

[7]  Sulaiman M. Alsulaiman,et al.  Evolution of macular hole in enhanced S-cone syndrome , 2020, Documenta Ophthalmologica.

[8]  F. Alkuraya,et al.  Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. , 2019, American journal of human genetics.

[9]  H. Woodrow,et al.  : A Review of the , 2018 .

[10]  J. Sallum,et al.  Autoimmune retinopathy: A Review , 2018, International Journal of Retina and Vitreous.

[11]  N. Artemyev,et al.  Mechanisms of mutant PDE6 proteins underlying retinal diseases. , 2017, Cellular signalling.

[12]  F. Alkuraya,et al.  The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes , 2017, Human Genetics.

[13]  Donna M. Muzny,et al.  Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation , 2017, The New England journal of medicine.

[14]  A. Brézin,et al.  Ocular manifestations of autoimmune polyendocrinopathy syndrome type 1 , 2016, Current opinion in ophthalmology.

[15]  D. Larhammar,et al.  Evolution and expression of the phosphodiesterase 6 genes unveils vertebrate novelty to control photosensitivity , 2016, BMC Evolutionary Biology.

[16]  I. MacDonald,et al.  Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series , 2015, British Journal of Ophthalmology.

[17]  Mark S. Anderson,et al.  Autoimmune Retinopathy in a Patient with Autoimmune Polyendocrine Syndrome Type I , 2013, Ocular immunology and inflammation.

[18]  F. Riemslag,et al.  A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. , 2012, American journal of human genetics.

[19]  E. S. Kuznetsova,et al.  Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations , 2010, Hormone Research in Paediatrics.

[20]  B. Preston,et al.  Case Series , 2010, Toxicologic pathology.

[21]  C. Klaver,et al.  Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. , 2009, American journal of human genetics.

[22]  S. Yeh,et al.  Spontaneous T cell mediated keratoconjunctivitis in Aire-deficient mice , 2009, British Journal of Ophthalmology.

[23]  Mark S. Anderson,et al.  Spontaneous autoimmunity prevented by thymic expression of a single self-antigen , 2006, The Journal of experimental medicine.

[24]  J. Beavo,et al.  Cyclic Nucleotide Phosphodiesterases: Molecular Regulation to Clinical Use , 2006, Pharmacological Reviews.

[25]  R. Cote.  Characteristics of Photoreceptor PDE (PDE6): similarities and differences to PDE5 , 2004, International Journal of Impotence Research.

[26]  L. Peltonen,et al.  Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. , 2000, American journal of human genetics.

[27]  L. Peltonen,et al.  Localization of the APECED protein in distinct nuclear structures. , 1999, Human molecular genetics.

[28]  A. Milam,et al.  Histopathology of the human retina in retinitis pigmentosa. , 1998, Progress in retinal and eye research.

[29]  M. Daily,et al.  Retinal and optic nerve manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. , 1991, Archives of ophthalmology.

[30]  J. Perheentupa,et al.  Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. , 1990, The New England journal of medicine.

[31]  J. Gass.  The syndrome of keratoconjunctivitis, superficial moniliasis, idiopathic hypoparathyroidism and Addison's disease. , 1962, American journal of ophthalmology.

[32]  Mark S. Anderson,et al.  Small proline-rich protein 1B (SPRR1B) is a biomarker for squamous metaplasia in dry eye disease. , 2008, Investigative ophthalmology & visual science.

[33]  Edward N Pugh,et al.  G proteins and phototransduction. , 2002, Annual review of physiology.

[34]  Shinsei Minoshima,et al.  Positional cloning of the APECED gene , 1997, Nature Genetics.