Lista de obras - Lubica Dudakova - Dominio Público Uruguay

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients

artículo científico publicado en 2017

Analysis of KERA in four families with cornea plana identifies two novel mutations.

artículo científico publicado en 2017

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

artículo científico publicado en 2018

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

artículo científico publicado en 2015

Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

artículo científico publicado en 2019

CUGC for posterior polymorphous corneal dystrophy (PPCD)

scientific article published on 14 June 2019

Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas

artículo científico publicado en 2012

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

scientific article published on 01 June 2019

Copper in Keratoconic Corneas.

artículo científico publicado en 2017

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

artículo científico publicado en 2013

Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.

artículo científico publicado en 2017

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation

artículo científico publicado en 2014

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

artículo científico publicado en 2016

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

artículo científico publicado en 2018

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

artículo científico publicado en 2017

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

artículo científico publicado en 2015

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

artículo científico publicado en 2014

Is copper imbalance an environmental factor influencing keratoconus development?

article

Macular corneal dystrophy and associated corneal thinning.

artículo científico publicado en 2014

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

artículo científico publicado en 2016

OPA1 analysis in an international series of probands with bilateral optic atrophy

artículo científico publicado en 2016

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty

artículo científico publicado en 2019

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

artículo científico publicado en 2016

Replication of SNP associations with keratoconus in a Czech cohort

artículo científico publicado en 2017

SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.

artículo científico publicado en 2018

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

article

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

artículo científico

The OV-TL 12/30 clone of anti-cytokeratin 7 antibody as a new marker of corneal conjunctivalization in patients with limbal stem cell deficiency

artículo científico

The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders

artículo científico

The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas

artículo científico publicado en 2015

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

artículo científico publicado en 2019

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent

artículo científico publicado en 2015

Lista de obras de Lubica Dudakova

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

CUGC for posterior polymorphous corneal dystrophy (PPCD)

Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

Copper in Keratoconic Corneas.

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

Is copper imbalance an environmental factor influencing keratoconus development?

Macular corneal dystrophy and associated corneal thinning.

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

OPA1 analysis in an international series of probands with bilateral optic atrophy

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

Replication of SNP associations with keratoconus in a Czech cohort

SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

The OV-TL 12/30 clone of anti-cytokeratin 7 antibody as a new marker of corneal conjunctivalization in patients with limbal stem cell deficiency

The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders

The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent