Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies.

[1]  J. Mehta,et al.  The Management of Ocular Surface Squamous Neoplasia (OSSN) , 2022, International journal of molecular sciences.

[2]  M. Kuo,et al.  Tear Proteomics Approach to Distinguishing Primary from Secondary Sjögren’s Syndrome for Dry Eye Patients with Long-Term Instillation of Eyedrops , 2022, International journal of molecular sciences.

[3]  Yan Liu,et al.  Vitamin D Receptor Gene Polymorphisms and the Risk of CIN2+ in Shanxi Population , 2022, BioMed research international.

[4]  Gregory A. Newby,et al.  ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation , 2022, Scientific Reports.

[5]  J. Chiorini,et al.  Correction of LAMP3-associated salivary gland hypofunction by aquaporin gene therapy , 2022, Scientific Reports.

[6]  Xiang Lin,et al.  The Future of Targeted Treatment of Primary Sjögren’s Syndrome: A Focus on Extra-Glandular Pathology , 2022, International journal of molecular sciences.

[7]  Z. Siprashvili,et al.  Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa , 2022, Orphanet Journal of Rare Diseases.

[8]  W. Tassaneeyakul,et al.  Development of label-free electrochemical impedance spectroscopy for the detection of HLA-B*15:02 and HLA-B*15:21 for the prevention of carbamazepine-induced Stevens-Johnson syndrome. , 2022, Analytical biochemistry.

[9]  D. Strunk,et al.  COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa , 2022, Frontiers in Medicine.

[10]  S. Vassileva,et al.  Association of specific HLA alleles and haplotypes with pemphigus vulgaris in the Bulgarian population , 2022, Frontiers in Immunology.

[11]  D. Bremond-Gignac,et al.  Eye Involvement and Management in Inherited Epidermolysis Bullosa , 2022, Drugs.

[12]  M. Ueta.  Susceptibility Genes and HLA for Cold Medicine-Related SJS/TEN with SOC , 2022, Frontiers in Genetics.

[13]  F. Pagani,et al.  Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA. , 2022, American journal of human genetics.

[14]  E. Rosenthal,et al.  The Use of Panitumumab-IRDye800CW in a Novel Murine Model for Conjunctival Squamous Cell Carcinoma , 2022, Translational vision science & technology.

[15]  J. Chiorini,et al.  Clinical and laboratory evaluation of sicca complaints: distinctive aspects of primary, secondary and non-Sjogren syndrome , 2022, Advances in Rheumatology.

[16]  Javier Martín,et al.  A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren’s Syndrome , 2022, Clinical Reviews in Allergy & Immunology.

[17]  A. Tzioufas,et al.  Experimental models of Sjögren's syndrome: differences and similarities with human disease. , 2022, Clinical and experimental rheumatology.

[18]  S. Bae,et al.  Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa , 2022, Molecular therapy : the journal of the American Society of Gene Therapy.

[19]  G. Iyer,et al.  Management of coexisting bilateral ocular surface disease in xeroderma pigmentosum - sequence and outcomes. , 2022, European journal of ophthalmology.

[20]  S. Rauz,et al.  OP-1 Conjunctival genetic 'fingerprinting' in ocular mucous membrane pemphigoid. , 2022, BMJ Open Ophthalmology.

[21]  P. Zoroquiain,et al.  Análisis de la expresión inmunohistoquímica de OVOL1 como herramienta diagnóstica de invasión en las neoplasias escamosas de la superficie ocular , 2022, Archivos de la Sociedad Española de Oftalmología.

[22]  Taher K Eleiwa,et al.  Peripheral Ulcerative Keratitis: A Review , 2022, Journal of ophthalmic & vision research.

[23]  C. Bodemer,et al.  Human iPSC-derived-keratinocytes, a useful model to identify and explore pathological phenotype of Epidermolysis Bullosa Simplex. , 2022, Journal of Investigative Dermatology.

[24]  K. Hon,et al.  Xeroderma pigmentosum: an updated review , 2022, Drugs in context.

[25]  Yingping Deng,et al.  Transgenic dry eye mouse models: powerful tools to study dry eye disease. , 2022, International journal of ophthalmology.

[26]  I. Shatriah,et al.  MicroRNA Profiling of the Tears of Children With Vernal Keratoconjunctivitis , 2022, Frontiers in Genetics.

[27]  B. Esmaeli,et al.  Conjunctival melanoma: New insights in tumour genetics and immunology, leading to new therapeutic options , 2021, Progress in Retinal and Eye Research.

[28]  R. Blasczyk,et al.  Genetic Modification of Limbal Stem Cells to Decrease Allogeneic Immune Responses , 2021, Frontiers in Immunology.

[29]  Ting Liu,et al.  Increased cGAS/STING signaling components in patients with Mooren's ulcer. , 2021, International journal of ophthalmology.

[30]  V. Uversky,et al.  Functional impact of titin (TTN) mutations in ocular surface squamous neoplasia. , 2021, International Journal of Biological Macromolecules.

[31]  M. Swertz,et al.  Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa , 2021, International Journal of Molecular Sciences.

[32]  A. Dyer,et al.  Long-Term Anatomical and Functional Survival of Boston Type 1 Keratoprosthesis in Congenital Aniridia , 2021, Frontiers in Medicine.

[33]  M. Sacchetti,et al.  Understanding Vernal Keratoconjunctivitis: Beyond Allergic Mechanisms , 2021, Life.

[34]  S. Wiffen,et al.  Keeping an ‘eye’ on ocular GVHD , 2021, Clinical & experimental optometry.

[35]  A. Shiba‐Ishii.  Significance of stratifin in early progression of lung adenocarcinoma and its potential therapeutic relevance , 2021, Pathology international.

[36]  A. Krainer,et al.  Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia , 2021, Nature Communications.

[37]  R. Dana,et al.  A Review of Ocular Graft-versus-Host Disease: Pathophysiology, Clinical Presentation and Management , 2021, Ocular immunology and inflammation.

[38]  A. Fiocchi,et al.  Vernal keratoconjunctivitis in twins: case report and literature review , 2021, Italian Journal of Pediatrics.

[39]  S. Yamagami,et al.  Alterations in Mucin-Associated Gene Expression on the Ocular Surface in Active and Stable Stages of Atopic and Vernal Keratoconjunctivitis , 2021, Journal of ophthalmology.

[40]  K. Pang,et al.  Mouse models for dominant dystrophic epidermolysis bullosa (DDEB) carrying common human point mutations recapitulate the human disease. , 2021, Disease models & mechanisms.

[41]  A. Ljubimov,et al.  Gene therapy in the anterior eye segment. , 2021, Current gene therapy.

[42]  S. S. Chauhan,et al.  Stratifin in ocular surface squamous neoplasia and its association with p53 , 2021, Acta ophthalmologica.

[43]  J. Lambert,et al.  Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa , 2021, International journal of molecular sciences.

[44]  P. Laissue,et al.  Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype , 2021, Pharmacogenomics and personalized medicine.

[45]  Gomes Beatriz Fiuza,et al.  Biology of peripheral ulcerative keratitis. , 2021, Experimental eye research.

[46]  A. Ljubimov,et al.  Systemic diseases and the cornea. , 2021, Experimental eye research.

[47]  M. Moosajee,et al.  Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6 , 2021, Stem Cell Research.

[48]  Mahadev Rao,et al.  Clinical Utility of HLA-B*58:01 Genotyping to Prevent Allopurinol-Induced SJS/TEN , 2020, Hospital pharmacy.

[49]  K. Kridin,et al.  Milestones in Personalized Medicine in Pemphigus and Pemphigoid , 2021, Frontiers in Immunology.

[50]  Swati Singh,et al.  Ocular Involvement in Sjogren's Syndrome: Risk Factors for Severe Visual Impairment and Vision-Threatening Corneal Complications. , 2020, American journal of ophthalmology.

[51]  J. Güell,et al.  Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 gene: A Case Report. , 2020, Cornea.

[52]  Ashik Mohamed,et al.  Ocular Features in a Large Cohort of Indians With Xeroderma Pigmentosum. , 2020, Cornea.

[53]  V. Coulson-Thomas,et al.  Meibomian Gland Dysfunction: What Have Animal Models Taught Us? , 2020, International journal of molecular sciences.

[54]  M. Docquier,et al.  Conjunctival transcriptome analysis reveals the overexpression of multiple pattern recognition receptors in vernal keratoconjunctivitis. , 2020, The ocular surface.

[55]  H. Nakane,et al.  Autophagy induction on impaired spermatogenesis of xeroderma pigmentosum group A gene-deficient mice. , 2020, Biomedical research.

[56]  S. Wilton,et al.  Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1 , 2020, International journal of molecular sciences.

[57]  K. Maruyama,et al.  Corneal opacity induced by light in a mouse model of gelatinous drop-like corneal dystrophy. , 2020, The American journal of pathology.

[58]  T. Ritsema,et al.  QR-313, an antisense oligonucleotide, shows therapeutic efficacy for treatment of dominant and recessive dystrophic epidermolysis bullosa: a preclinical study. , 2020, The Journal of investigative dermatology.

[59]  A. Morris,et al.  Genetic and clinical basis for two distinct subtypes of primary Sjögren’s syndrome , 2020, Rheumatology.

[60]  N. Hayward,et al.  Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings , 2020, Ophthalmic genetics.

[61]  P. Gallagher,et al.  Nuclease Therapy Improves Severe Fatigue in Primary Sjögren's Syndrome: A Randomized Clinical Trial. , 2020, Arthritis & rheumatology.

[62]  Alexander Zdebik,et al.  Ocular manifestations of dermal paraneoplastic syndromes , 2020, Postepy dermatologii i alergologii.

[63]  L. Battaglia,et al.  Topical Administration of SLN-Based Gene Therapy for the Treatment of Corneal Inflammation by De Novo IL-10 Production , 2020, Pharmaceutics.

[64]  J. Nandakumar,et al.  Small Molecules Restore Telomeres in Patient Stem Cells. , 2020, Trends in pharmacological sciences.

[65]  Hebah M. Musalem,et al.  Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series , 2020, The American journal of case reports.

[66]  D. Chung,et al.  Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy , 2020, Case Reports in Ophthalmology.

[67]  Bijun Zhang,et al.  Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia , 2020, Molecular genetics & genomic medicine.

[68]  A. Klein,et al.  Uveal melanoma: Towards a molecular understanding , 2020, Progress in Retinal and Eye Research.

[69]  B. Ferguson,et al.  Spontaneous KRT5 Gene Mutation in Rhesus Macaques (Macaca mulatta): A Novel Nonhuman Primate Model of Epidermolysis Bullosa Simplex , 2020, Veterinary pathology.

[70]  M. Kuroda,et al.  Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair , 2020, Scientific Reports.

[71]  C. Bodemer,et al.  Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility , 2020, The British journal of dermatology.

[72]  J. Enghild,et al.  Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies , 2020, Progress in Retinal and Eye Research.

[73]  J. M. Murillo-Maldonado,et al.  Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases , 2020, International journal of molecular sciences.

[74]  A. Galor,et al.  Whole exome profiling and mutational analysis of Ocular Surface Squamous Neoplasia. , 2019, The ocular surface.

[75]  E. Simpson,et al.  Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia , 2020, Molecular therapy. Methods & clinical development.

[76]  Nergiz A. Ismayilova,et al.  Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms , 2020, European journal of ophthalmology.

[77]  G. Arno,et al.  The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye , 2019, Genes.

[78]  C. Shields,et al.  Tumors of the conjunctiva and cornea , 2019, Indian journal of ophthalmology.

[79]  J. Sugar,et al.  Management of Congenital Aniridia-Associated Keratopathy: Long-Term Outcomes from a Tertiary Referral Center. , 2019, American journal of ophthalmology.

[80]  V. Kinsler,et al.  ALLELE-SPECIFIC SIRNA CORRECTS ABERRANT CELLULAR PHENOTYPE IN KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME KERATINOCYTES. , 2019, The Journal of investigative dermatology.

[81]  Jianjiang Xu,et al.  Shared gene signature between pterygium and meibomian gland dysfunction uncovered through gene‐expression meta‐analysis , 2019, Annals of human genetics.

[82]  L. Looijenga,et al.  MicroRNA Profiling in Benign and Malignant Conjunctival Melanocytic Lesions. , 2019, Ophthalmology.

[83]  A. Lambiase,et al.  Neurotrophic factors and nerve growth factor in ocular allergy. , 2019, Current opinion in allergy and clinical immunology.

[84]  Daja Šekoranja,et al.  Combined deep penetrating nevi of the conjunctiva are relatively common lesions characterised by BRAFV600E mutation and activation of the beta catenin pathway: a clinicopathological analysis of 34 lesions , 2019, British Journal of Ophthalmology.

[85]  Qingfeng Ni,et al.  Prediction of potential drugs and targets based on meibomian gland dysfunction module classification to guide individualized treatment , 2019, Journal of cellular biochemistry.

[86]  Xue Pan,et al.  Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese , 2019, Ophthalmic genetics.

[87]  Pan Xiao,et al.  Association Between Single Nucleotide Polymorphisms in the Vitamin D Receptor and Incidence of Dry Eye Disease in Chinese Han Population , 2019, Medical science monitor : international medical journal of experimental and clinical research.

[88]  Sander R. Dubovy,et al.  Genomic evolution of uveal melanoma arising in ocular melanocytosis , 2019, Cold Spring Harbor molecular case studies.

[89]  Soo-Chan Kim,et al.  Paraneoplastic Pemphigus: Paraneoplastic Autoimmune Disease of the Skin and Mucosa , 2019, Front. Immunol..

[90]  G. Tortora,et al.  Dabrafenib and Trametinib in BRAF Mutant Metastatic Conjunctival Melanoma , 2019, Front. Oncol..

[91]  S. Feizi,et al.  Ocular Manifestations and Management of Autoimmune Bullous Diseases , 2019, Journal of ophthalmic & vision research.

[92]  T. Vajaranant,et al.  Staged ocular fornix reconstruction for glaucoma drainage device under neoconjunctiva at the time of Boston type 1 Keratoprosthesis implantation. , 2019, The ocular surface.

[93]  Y. Okada,et al.  Transcriptome profiling of refractory atopic keratoconjunctivitis by RNA sequencing. , 2019, The Journal of allergy and clinical immunology.

[94]  C. Wahlestedt,et al.  BET Bromodomain Inhibitors Which Permit Treg Function Enable a Combinatorial Strategy to Suppress GVHD in Pre-clinical Allogeneic HSCT , 2019, Front. Immunol..

[95]  A. Tabarin,et al.  Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study. , 2019, The lancet. Diabetes & endocrinology.

[96]  M. Goldbaum,et al.  GNAQ and PMS1 Mutations Associated with Uveal Melanoma, Ocular Surface Melanosis, and Nevus of Ota , 2019, Ocular Oncology and Pathology.

[97]  Hui-xiang Ma,et al.  Thymic Stromal Lymphopoietin-Related Allergic Pathway in Patients With Vernal Keratoconjunctivitis , 2018, Cornea.

[98]  E. Holland,et al.  Ocular Surface Stem Cell Transplantation for Treatment of Keratitis–Ichthyosis–Deafness Syndrome , 2018, Cornea.

[99]  K. Nishida,et al.  A New in Vitro Model of GDLD by Knocking Out TACSTD2 and Its Paralogous Gene EpCAM in Human Corneal Epithelial Cells , 2018, Translational vision science & technology.

[100]  Andrea J. Korecki,et al.  Epistasis between Pax6Sey and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials , 2018, Gene Therapy.

[101]  M. Tsujikawa.  Road to a Genetic Model of Gelatinous Drop-Like Corneal Dystrophy. , 2018, Cornea.

[102]  E. Di Iorio,et al.  Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. , 2018, Cellular reprogramming.

[103]  J. Concordet,et al.  Modeling of Aniridia‐Related Keratopathy by CRISPR/Cas9 Genome Editing of Human Limbal Epithelial Cells and Rescue by Recombinant PAX6 Protein , 2018, Stem cells.

[104]  D. Chung,et al.  Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family , 2018, Cornea.

[105]  J. McGrath,et al.  Efficacy of Human Placental‐Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model , 2018, Stem cells translational medicine.

[106]  Y. Hua,et al.  Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice , 2018, Nucleic acids research.

[107]  E. Di Iorio,et al.  Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene. , 2018, Stem cell research.

[108]  D. Schadendorf,et al.  NF1 mutations in conjunctival melanoma , 2018, British Journal of Cancer.

[109]  S. S. Chauhan,et al.  p16INK4a overexpression as a predictor of survival in ocular surface squamous neoplasia , 2018, British Journal of Ophthalmology.

[110]  I. van Herzeele,et al.  Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features , 2018, Ophthalmic genetics.

[111]  M. S. Cortina,et al.  Five year outcomes of Boston type I keratoprosthesis as primary versus secondary penetrating corneal procedure in a matched case control study , 2018, PloS one.

[112]  A. Schwartz,et al.  Incidence, outcomes, and resource use in children with Stevens‐Johnson syndrome and toxic epidermal necrolysis , 2018, Pediatric dermatology.

[113]  J. Enghild,et al.  Proteomic profiling of TGFBI‐null mouse corneas reveals only minor changes in matrix composition supportive of TGFBI knockdown as therapy against TGFBI‐linked corneal dystrophies , 2018, The FEBS journal.

[114]  H. Grossniklaus,et al.  BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi , 2018, Investigative ophthalmology & visual science.

[115]  C. Villanueva-Mendoza,et al.  Severe Phenotype of Keratitis–Ichthyosis–Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia , 2017, Cornea.

[116]  D. Zillikens,et al.  Genomewide association study identifies GALC as susceptibility gene for mucous membrane pemphigoid , 2017, Experimental dermatology.

[117]  S. Bicciato,et al.  Regeneration of the entire human epidermis using transgenic stem cells , 2017, Nature.

[118]  P. Thulasi,et al.  Update in Current Diagnostics and Therapeutics of Dry Eye Disease. , 2017, Ophthalmology.

[119]  A. Morley,et al.  Ophthalmic Manifestations of Xeroderma Pigmentosum: A Perspective from the United Kingdom. , 2017, Ophthalmology.

[120]  M. J. Passos,et al.  Systemic Treatment of Metastatic Conjunctival Melanoma , 2017, Case reports in oncological medicine.

[121]  K. Tsubota,et al.  Reduced Expression of VAMP8 in Lacrimal Gland Affected by Chronic Graft-versus-Host Disease , 2017, Journal of ophthalmology.

[122]  C. Nishigori,et al.  CXCL1 Inhibition Regulates UVB-Induced Skin Inflammation and Tumorigenesis in Xpa-Deficient Mice. , 2017, The Journal of investigative dermatology.

[123]  D. Lawrence,et al.  Conjunctival Melanoma Responsive to Combined Systemic BRAF/MEK Inhibitors. , 2017, Ophthalmic plastic and reconstructive surgery.

[124]  Nancy A McNamara,et al.  TFOS DEWS II pain and sensation report. , 2017, The ocular surface.

[125]  K. Tsubota,et al.  TFOS DEWS II Definition and Classification Report. , 2017, The ocular surface.

[126]  Tannin A Schmidt,et al.  TFOS DEWS II Tear Film Report. , 2017, The ocular surface.

[127]  A. Djalilian,et al.  Limbal and corneal epithelial homeostasis , 2017, Current opinion in ophthalmology.

[128]  F. Lefcort,et al.  Animal and cellular models of familial dysautonomia , 2017, Clinical Autonomic Research.

[129]  C. Shields,et al.  Conjunctival Tumors: Review of Clinical Features, Risks, Biomarkers, and Outcomes--The 2017 J. Donald M. Gass Lecture. , 2017, Asia-Pacific journal of ophthalmology.

[130]  D. Popadic,et al.  Pemphigus vulgaris and pemphigus foliaceus determined by CD86 and CTLA4 polymorphisms. , 2017, Clinics in dermatology.

[131]  K. Busam,et al.  The NF1 gene in tumor syndromes and melanoma , 2017, Laboratory Investigation.

[132]  W. Shi,et al.  Upregulation of NLRP3 inflammasome components in Mooren’s ulcer , 2017, Graefe's Archive for Clinical and Experimental Ophthalmology.

[133]  M. Sagoo,et al.  Squamous Cell Carcinoma of the Conjunctiva , 1997 .

[134]  Sujata Das,et al.  Gelatinous drop-like corneal dystrophy: a review , 2016, British Journal of Ophthalmology.

[135]  J. Fine,et al.  Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. , 2016, JAMA dermatology.

[136]  S. Tuft,et al.  Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. , 2016, Investigative ophthalmology & visual science.

[137]  M. Lee,et al.  Identification of susceptibility gene associated with female primary Sjögren’s syndrome in Han Chinese by genome-wide association study , 2016, Human Genetics.

[138]  P. Dietrich,et al.  Familial Dysautonomia: Mechanisms and Models , 2016, Genetics and molecular biology.

[139]  C. von Buchwald,et al.  MicroRNA Expression Profile in Conjunctival Melanoma. , 2016, Investigative ophthalmology & visual science.

[140]  A. Lanzavecchia,et al.  Reengineering chimeric antigen receptor T cells for targeted therapy of autoimmune disease , 2016, Science.

[141]  R. Yee,et al.  Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24 , 2016, PloS one.

[142]  T. Inatomi,et al.  Boston Type 1 Keratoprosthesis for Gelatinous Drop-Like Corneal Dystrophy , 2016, Optometry and vision science : official publication of the American Academy of Optometry.

[143]  S. Ferrari,et al.  Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele‐Specific Silencing Restores Defective Stem Cell Function , 2016, Stem cells.

[144]  S. Ferrari,et al.  Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous‐Heterozygous Mosaicism of Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome , 2016, Stem cells translational medicine.

[145]  G. Melino,et al.  Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity , 2016, Cell Death and Disease.

[146]  H. Lee,et al.  Effect of Hydroxychloroquine Treatment on Dry Eyes in Subjects with Primary Sjögren’s Syndrome: a Double-Blind Randomized Control Study , 2016, Journal of Korean medical science.

[147]  Sky K Chew,et al.  Use of topical retinoic acid for limbal stem cell failure: a retrospective clinical case series , 2016, Clinical and Experimental Ophthalmology.

[148]  D. Mackey,et al.  A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. , 2016, Ophthalmology.

[149]  P. Guldberg,et al.  BRAF mutations in conjunctival melanoma: investigation of incidence, clinicopathological features, prognosis and paired premalignant lesions , 2016, Acta ophthalmologica.

[150]  K. Drzewiecki,et al.  Mucosal malignant melanoma – a clinical, oncological, pathological and genetic survey , 2016, APMIS : acta pathologica, microbiologica, et immunologica Scandinavica.

[151]  B. Chauhan,et al.  Congenital aniridia: etiology, manifestations and management , 2016, Expert review of ophthalmology.

[152]  A. Vivancos,et al.  Genetic evolution of nevus of Ota reveals clonal heterogeneity acquiring BAP1 and TP53 mutations , 2016, Pigment cell & melanoma research.

[153]  C. Eberhart,et al.  Altered gene expression in conjunctival squamous cell carcinoma , 2016, Modern Pathology.

[154]  Ye Wang,et al.  Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients. , 2016, International journal of ophthalmology.

[155]  S. Abdelhak,et al.  Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia , 2016, The British journal of dermatology.

[156]  J. Enghild,et al.  Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy , 2016, Human molecular genetics.

[157]  M. Nesbit,et al.  CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting , 2015, Gene Therapy.

[158]  B. Glasgow,et al.  Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity , 2014, Ophthalmic genetics.

[159]  M. Ueta.  Genetic Predisposition to Stevens–Johnson Syndrome With Severe Ocular Surface Complications , 2015, Cornea.

[160]  P. Guldberg,et al.  A Retrospective Review of Conjunctival Melanoma Presentation, Treatment, and Outcome and an Investigation of Features Associated with Braf Mutations Original Investigation , 2022 .

[161]  Y. Sheen,et al.  TERT promoter mutations in periocular carcinomas: implications of ultraviolet light in pathogenesis , 2015, British Journal of Ophthalmology.

[162]  D. Dobrowolski,et al.  Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients , 2015, BioMed research international.

[163]  K. Tsubota,et al.  Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2 , 2015, PloS one.

[164]  Mark I Rosenblatt,et al.  Boston Keratoprosthesis: Outcomes and Complications: A Report by the American Academy of Ophthalmology. , 2015, Ophthalmology.

[165]  I. Fernández,et al.  Gene Expression-Based Predictive Models of Graft Versus Host Disease-Associated Dry Eye. , 2015, Investigative ophthalmology & visual science.

[166]  A. Sekine,et al.  IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement. , 2015, The Journal of allergy and clinical immunology.

[167]  Sky K Chew,et al.  Retinoic acid and the ocular surface. , 2015, Survey of ophthalmology.

[168]  Therese G. Kellgren,et al.  Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED) , 2015, Human mutation.

[169]  N. Di Girolamo,et al.  Clinical outcomes of xeno-free expansion and transplantation of autologous ocular surface epithelial stem cells via contact lens delivery: a prospective case series , 2015, Stem Cell Research & Therapy.

[170]  M. Kubota,et al.  Hereditary sensory and autonomic neuropathy types IV and V in Japan , 2015, Pediatrics international : official journal of the Japan Pediatric Society.

[171]  C. Cui,et al.  Prognostic factors for conjunctival melanoma: a study in ethnic Chinese patients , 2015, British Journal of Ophthalmology.

[172]  R. Zhong,et al.  Epidemiology of primary Sjögren's syndrome: a systematic review and meta-analysis , 2014, Annals of the rheumatic diseases.

[173]  S. Yuba,et al.  Generation of Xeroderma Pigmentosum-A Patient-Derived Induced Pluripotent Stem Cell Line for Use As Future Disease Model. , 2015, Cellular Reprogramming.

[174]  C. Eberhart,et al.  Identification of multiple DNA copy number alterations including frequent 8p11.22 amplification in conjunctival squamous cell carcinoma. , 2014, Investigative ophthalmology & visual science.

[175]  H. Kaufmann,et al.  Current treatments in familial dysautonomia , 2014, Expert opinion on pharmacotherapy.

[176]  E. Zwarthoff,et al.  Prevalence and implications of TERT promoter mutation in uveal and conjunctival melanoma and in benign and premalignant conjunctival melanocytic lesions. , 2014, Investigative ophthalmology & visual science.

[177]  C. Chams‐Davatchi,et al.  Ocular involvement in pemphigus vulgaris , 2014, The Journal of dermatology.

[178]  G. Pellegrini,et al.  siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy. , 2014, Investigative ophthalmology & visual science.

[179]  K. Nishida,et al.  Theoretical assessment for the gene therapy of gelatinous drop-like corneal dystrophy , 2014 .

[180]  S. Knapp,et al.  Targeting bromodomains: epigenetic readers of lysine acetylation , 2014, Nature Reviews Drug Discovery.

[181]  P. Tak,et al.  Targeting the splicing of mRNA in autoimmune diseases: BAFF inhibition in Sjögren's syndrome as a proof of concept. , 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

[182]  V. Sangwan,et al.  Type I keratoprosthesis for visual rehabilitation of patients with xeroderma pigmentosum , 2014, BMJ Case Reports.

[183]  M. Zemba,et al.  [Peripheral ulcerative keratitis]. , 2014, Oftalmologia.

[184]  L. Giacomelli,et al.  C‐Kit SCF receptor (CD117) expression and KIT gene mutation in conjunctival pigmented lesions , 2013, Acta ophthalmologica.

[185]  H. Cui,et al.  Establishment of a transgenic mouse model of corneal dystrophy overexpressing human BIGH3. , 2013, International journal of molecular medicine.

[186]  D. Schadendorf,et al.  Conjunctival Melanomas Harbor BRAF and NRAS Mutations—Response , 2013, Clinical Cancer Research.

[187]  V. Sondak,et al.  Conjunctival Melanomas Harbor BRAF and NRAS Mutations—Letter , 2013, Clinical Cancer Research.

[188]  J. Ott,et al.  A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23 , 2013, Nature Genetics.

[189]  A. Murakami,et al.  Establishment of a human corneal epithelial cell line lacking the functional TACSTD2 gene as an in vitro model for gelatinous drop-like dystrophy. , 2013, Investigative ophthalmology & visual science.

[190]  C. Shields,et al.  Association of ocular and oculodermal melanocytosis with the rate of uveal melanoma metastasis: analysis of 7872 consecutive eyes. , 2013, JAMA ophthalmology.

[191]  Sikandar G. Khan,et al.  Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. , 2013, Ophthalmology.

[192]  K. Tsubota,et al.  Angiotensin II Type 1 Receptor Antagonist Attenuates Lacrimal Gland, Lung, and Liver Fibrosis in a Murine Model of Chronic Graft-Versus-Host Disease , 2013, PloS one.

[193]  K. Wiman,et al.  Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET , 2013, Proceedings of the National Academy of Sciences.

[194]  S. Maurer-Stroh,et al.  Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis , 2013, Journal of Medical Genetics.

[195]  Jonathan E. Moore,et al.  Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. , 2013, Investigative ophthalmology & visual science.

[196]  Heustein Sy,et al.  Atopic keratoconjunctivitis. , 2013, Allergy and asthma proceedings.

[197]  S. Kinoshita,et al.  Establishment of a human conjunctival epithelial cell line lacking the functional TACSTD2 gene (an American Ophthalmological Society thesis). , 2012, Transactions of the American Ophthalmological Society.

[198]  K. Zeng,et al.  Association between HLA-DRB1 polymorphisms and pemphigus vulgaris: a meta-analysis , 2012, The British journal of dermatology.

[199]  S. Ferrari,et al.  A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis , 2012, American journal of medical genetics. Part A.

[200]  T. Vulliamy,et al.  Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita , 2012, International Ophthalmology.

[201]  S. Rosset,et al.  Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. , 2012, The Journal of investigative dermatology.

[202]  C. Rapuano,et al.  Corneal changes in ectrodactyly–ectodermal dysplasia–cleft lip and palate syndrome: case series and literature review , 2012, International Ophthalmology.

[203]  H. Fathy,et al.  Tumor necrosis factor-α -308 G>A and interleukin-6 -174 G>C promoter polymorphisms and pemphigus. , 2012, Human immunology.

[204]  B. Hunnicutt,et al.  IKAP/Elp1 Is Required In Vivo for Neurogenesis and Neuronal Survival, but Not for Neural Crest Migration , 2012, PloS one.

[205]  S. Ferrari,et al.  Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. , 2012, Ophthalmology.

[206]  Q. Le,et al.  Clinicopathological Features of a Suspected Case of Hereditary Benign Intraepithelial Dyskeratosis With Bilateral Corneas Involved: A Case Report and Mini Review , 2011, Cornea.

[207]  P. Reche,et al.  Role of MHC Class II genes in the pathogenesis of pemphigoid. , 2011, Autoimmunity reviews.

[208]  J. Mehta,et al.  S100A expression in normal corneal-limbal epithelial cells and ocular surface squamous cell carcinoma tissue , 2011, Molecular vision.

[209]  J. Pagani,et al.  Conjunctival Erosions Associated with Pemphigus Vulgaris , 2011, Optometry and vision science : official publication of the American Academy of Optometry.

[210]  Jonathan E. Moore,et al.  Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy , 2011, PloS one.

[211]  D. Sullivan,et al.  Changes in gene expression in human meibomian gland dysfunction. , 2011, Investigative ophthalmology & visual science.

[212]  K. Tsubota,et al.  The international workshop on meibomian gland dysfunction: executive summary. , 2011, Investigative ophthalmology & visual science.

[213]  C. Shields,et al.  Conjunctival melanoma: outcomes based on tumor origin in 382 consecutive cases. , 2011, Ophthalmology (Rochester, Minn.).

[214]  K. Tsubota,et al.  Simultaneous deep anterior lamellar keratoplasty and limbal allograft in bilateral limbal stem cell deficiency , 2010, Japanese Journal of Ophthalmology.

[215]  M. Tsujikawa,et al.  Tumor-associated calcium signal transducer 2 is required for the proper subcellular localization of claudin 1 and 7: implications in the pathogenesis of gelatinous drop-like corneal dystrophy. , 2010, The American journal of pathology.

[216]  D. Aslan,et al.  Dyskeratosis congenita and limbal stem cell deficiency. , 2010, Experimental eye research.

[217]  H. Shimizu,et al.  Animal models of epidermolysis bullosa. , 2010, Dermatologic clinics.

[218]  T. Inatomi,et al.  Functional role of thymic stromal lymphopoietin in chronic allergic keratoconjunctivitis. , 2010, Investigative ophthalmology & visual science.

[219]  F. Stapleton,et al.  Management of symptomatic Meesmann dystrophy. , 2009, Optometry and vision science : official publication of the American Academy of Optometry.

[220]  S. Rosenberg,et al.  Gene therapy with human and mouse T-cell receptors mediates cancer regression and targets normal tissues expressing cognate antigen. , 2009, Blood.

[221]  A. Bideci,et al.  Dyskeratosis congenita with corneal limbal insufficiency , 2009, Pediatric blood & cancer.

[222]  D. Wakefield,et al.  A Contact Lens-Based Technique for Expansion and Transplantation of Autologous Epithelial Progenitors for Ocular Surface Reconstruction , 2009, Transplantation.

[223]  M. D. Brennan,et al.  MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients. , 2009, Experimental eye research.

[224]  E. Simpson,et al.  Frequent somatic mutations of GNAQ in uveal melanoma and blue nevi , 2008, Nature.

[225]  P. Bhat,et al.  Conjunctival/Corneal Intraepithelial Neoplasia , 2009, International ophthalmology clinics.

[226]  Susan Muller,et al.  KIT Gene Mutations and Copy Number in Melanoma Subtypes , 2008, Clinical Cancer Research.

[227]  K. Tsubota,et al.  Alterations of the ocular surface epithelial MUC16 and goblet cell MUC5AC in patients with atopic keratoconjunctivitis , 2008, Allergy.

[228]  K. Tsubota,et al.  Management of Evaporative Dry Eye in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome , 2008, Optometry and vision science : official publication of the American Academy of Optometry.

[229]  R. Hynes,et al.  Genetic ablation of alphav integrins in epithelial cells of the eyelid skin and conjunctiva leads to squamous cell carcinoma. , 2008, The American journal of pathology.

[230]  A. Lehmann,et al.  Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. , 2008, DNA repair.

[231]  J. Crolla,et al.  Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia , 2008, American journal of medical genetics. Part A.

[232]  T. Ørntoft,et al.  Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family , 2008, Acta ophthalmologica.

[233]  M. Yanagisawa,et al.  In Vivo Confocal Microscopy of Hereditary Sensory and Autonomic Neuropathy , 2008, Current eye research.

[234]  D. Bu,et al.  Genotyping of HLA‐I and HLA‐II alleles in Chinese patients with paraneoplastic pemphigus , 2007, The British journal of dermatology.

[235]  C. Shields,et al.  Primary acquired melanosis of the conjunctiva: risks for progression to melanoma in 311 eyes. The 2006 Lorenz E. Zimmerman lecture. , 2008, Ophthalmology.

[236]  E. Cunningham,et al.  HLA-DR17 and Mooren’s ulcer in South India , 2007, British Journal of Ophthalmology.

[237]  H. Gürcan,et al.  Antigen specificity in subsets of mucous membrane pemphigoid. , 2006, The Journal of investigative dermatology.

[238]  Michele De Luca,et al.  Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells , 2006, Nature Medicine.

[239]  B. Rojas,et al.  Mooren Ulcer: An Immunopathologic Study , 2006, Cornea.

[240]  D. Schorderet,et al.  A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3 , 2006, Human mutation.

[241]  R. Trembath,et al.  Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris , 2006, The British journal of dermatology.

[242]  B. Dhillon,et al.  The aetiology and associations of conjunctival intraepithelial neoplasia , 2005, British Journal of Ophthalmology.

[243]  I. Chowers,et al.  T1799A BRAF mutations in conjunctival melanocytic lesions. , 2005, Investigative ophthalmology & visual science.

[244]  H. Mouquet,et al.  Genetic factors in pemphigus. , 2005, Journal of autoimmunity.

[245]  S. Yamagami,et al.  Chemokine receptor gene expression in giant papillae of atopic keratoconjunctivitis. , 2005, Molecular vision.

[246]  G. Dutton,et al.  Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy. , 2005, The international journal of biochemistry & cell biology.

[247]  S. Nonaka,et al.  Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7‐year study , 2005, The British journal of dermatology.

[248]  L. Zon,et al.  BRAF Mutations Are Sufficient to Promote Nevi Formation and Cooperate with p53 in the Genesis of Melanoma , 2005, Current Biology.

[249]  A. Kampik,et al.  Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. , 2005, Ophthalmology.

[250]  K. Waddell,et al.  TP53 codon 72 polymorphism and risk of conjunctival squamous cell carcinoma in Uganda. , 2005, Cancer detection and prevention.

[251]  D. de Wolff-Rouendaal,et al.  Conjunctival melanoma in the Netherlands: a nationwide study. , 2005, Investigative ophthalmology & visual science.

[252]  Muna Ahmed,et al.  Ocular cicatricial pemphigoid: pathogenesis, diagnosis and treatment , 2004, Progress in Retinal and Eye Research.

[253]  C. Foster,et al.  Ocular cicatricial pemphigoid review , 2004, Current opinion in allergy and clinical immunology.

[254]  C. Shields,et al.  Clinical survey of 1643 melanocytic and nonmelanocytic conjunctival tumors. , 2004, Ophthalmology.

[255]  C. Suchindran,et al.  Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry. , 2004, American journal of ophthalmology.

[256]  K. Tsubota,et al.  Increased Tear Evaporation in a Patient with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome , 2004, Japanese Journal of Ophthalmology.

[257]  A. Yasuda,et al.  Results of Surgical Procedures in Gelatinous Drop-Like Corneal Dystrophy (GDCD) by Scraping With/Without Excimer Laser Phototherapeutic Keratectomy (PTK) , 2003 .

[258]  M. Kaufman,et al.  Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. , 2003, Investigative ophthalmology & visual science.

[259]  M. Nordlund,et al.  Keratopathy in congenital aniridia. , 2003, The ocular surface.

[260]  P. Courville,et al.  Paraneoplastic pemphigus is associated with the DRB1*03 allele. , 2003, Journal of autoimmunity.

[261]  E. Holland,et al.  Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique. , 2003, Ophthalmology.

[262]  D. Bercovich,et al.  Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews. , 2003, Genetic testing.

[263]  J. McGrath,et al.  Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies. , 2002, The Journal of investigative dermatology.

[264]  A. Irvine,et al.  A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy , 2002, The British journal of ophthalmology.

[265]  E. Krieger,et al.  Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. , 2002, Human molecular genetics.

[266]  K. Tsubota,et al.  Limbal Stem Cell Transplantation for the Treatment of Subepithelial Amyloidosis of the Cornea (Gelatinous Drop-like Dystrophy) , 2002, Cornea.

[267]  S. Slaugenhaupt,et al.  Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approaches. , 2002, Advances in experimental medicine and biology.

[268]  Y. Bae,et al.  Molecular properties of wild-type and mutant betaIG-H3 proteins. , 2002, Investigative ophthalmology & visual science.

[269]  H. Brunner,et al.  Splitting p63. , 2002, American journal of human genetics.

[270]  Cathleen A Josaitis,et al.  Familial dysautonomia in review: diagnosis and treatment of ocular manifestations. , 2002, Advances in experimental medicine and biology.

[271]  M. Bamshad,et al.  p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. , 2001, American journal of human genetics.

[272]  B. Rubin,et al.  Familial dysautonomia is caused by mutations of the IKAP gene. , 2001, American journal of human genetics.

[273]  J. Gilbert,et al.  A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. , 2001, American journal of human genetics.

[274]  N. Koizumi,et al.  Epithelial Barrier Function and Ultrastructure of Gelatinous Drop-like Corneal Dystrophy , 2000, Cornea.

[275]  W. McLean,et al.  A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy , 2000, The British journal of ophthalmology.

[276]  P. Van Dessel,et al.  Invasive squamous cell carcinoma of the conjunctiva. , 2000, Bulletin de la Societe belge d'ophtalmologie.

[277]  M. Black,et al.  Adult linear IgA disease and chronic bullous disease of childhood: the association with human lymphocyte antigens Cw7, B8, DR3 and tumour necrosis factor influences disease expression , 1999, The British journal of dermatology.

[278]  Marc L. Mendillo,et al.  Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. , 1999, American journal of human genetics.

[279]  J. Gottsch,et al.  Cytokine-induced calgranulin C expression in keratocytes. , 1999, Clinical immunology.

[280]  Yusuke Nakamura,et al.  Identification of the gene responsible for gelatinous drop-like corneal dystrophy , 1999, Nature Genetics.

[281]  S. Mccormick,et al.  Recurrent Meesmann's Corneal Epithelial Dystrophy After Penetrating Keratoplasty , 1998, Cornea.

[282]  D. Meyer,et al.  Ophthalmic Manifestations of Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome , 1998, Ophthalmic plastic and reconstructive surgery.

[283]  S. Seregard.  Conjunctival melanoma. , 1998, Survey of ophthalmology.

[284]  H. Seigler,et al.  A phase I clinical trial of immunotherapy with interferon‐γ gene‐modified autologous melanoma cells , 1997 .

[285]  Jonathan E. Moore,et al.  Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy , 1997, Nature Genetics.

[286]  T. Doetschman,et al.  Keratin 12-deficient mice have fragile corneal epithelia. , 1996, Investigative ophthalmology & visual science.

[287]  B. Nichols.  Conjunctiva , 1996, Microscopy research and technique.

[288]  T. Ishikawa,et al.  High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene , 1995, Nature.

[289]  J. Crabb,et al.  cDNA from human ocular ciliary epithelium homologous to βig‐h3 is preferentially expressed as an extracellular protein in the corneal epithelium , 1994, Journal of cellular physiology.

[290]  A. Ahmed,et al.  Major histocompatibility complex haplotypes and class II genes in non-Jewish patients with pemphigus vulgaris. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[291]  A. Ahmed,et al.  Major histocompatibility complex haplotype studies in Ashkenazi Jewish patients with pemphigus vulgaris. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[292]  G. Hitman,et al.  A comparative serological and molecular study of linear IgA disease and dermatitis herpetiformis , 1988, The British journal of dermatology.

[293]  C. Nishigori,et al.  Genetics and skin cancer of xeroderma pigmentosum in Japan. , 1987, Japanese journal of cancer research : Gann.

[294]  S. Godfrey,et al.  Incidence of familial dysautonomia in Israel 1977–1981 , 1987, Clinical genetics.

[295]  K. Kraemer,et al.  Xeroderma Pigmentosum: Cutaneous, Ocular, and Neurologic Abnormalities in 830 Published Cases , 1987 .

[296]  R. Folberg,et al.  Primary acquired melanosis and melanoma of the conjunctiva: terminology, classification, and biologic behavior. , 1986, Human pathology.

[297]  R. Ramsay,et al.  Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum. , 1986, Journal of medical genetics.

[298]  M. Ruttum,et al.  Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. , 1985, Ophthalmology.

[299]  R. Folberg,et al.  Malignant melanoma of the conjunctiva. , 1985, Human pathology.

[300]  R. Foos,et al.  Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome. , 1984, American journal of ophthalmology.

[301]  Å. Svensson,et al.  Linear IgA dermatosis: a study of ten adult patients. , 1983, Acta dermato-venereologica.

[302]  J. L. McGraw,et al.  Corneal transplantation in familial dysautonomia. , 1979, American journal of ophthalmology.

[303]  J. Krachmer,et al.  Familial occurrence of dot (microcystic), map, fingerprint dystrophy of the cornea. , 1975, Investigative ophthalmology.

[304]  K. Kraemer,et al.  Xeroderma Pigmentosum: An Inherited Disease with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair , 1974 .

[305]  K. Fried.  Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome , 1972, Clinical genetics.

[306]  S. Liebman.  Riley-Day syndrome: long-term ophthalmologic observations. , 1968, Transactions of the American Ophthalmological Society.