Lista de obras - Carmel Toomes - Dominio Público Uruguay

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

artículo científico publicado en 2013

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome

scientific journal article

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Analysis of candidate genes for macular telangiectasia type 2

artículo científico publicado en 2010

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

artículo científico publicado en 2017

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

artículo científico publicado en 2007

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

artículo científico publicado en 2015

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

artículo científico publicado en 2008

Changing the status quo bias.

artículo científico publicado en 2011

Coinheritance of two rare genodermatoses (Papillon-Lefevre syndrome and oculocutaneous albinism type 1) in two families: a genetic study

article

Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome ⬇️

artículo científico publicado en 2014

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

artículo científico publicado en 2017

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. ⬇️

artículo científico publicado en 2017

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies

article

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

artículo científico publicado en 2002

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene ⬇️

artículo científico publicado en 2015

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

artículo científico publicado en 2011

Familial Exudative Vitreoretinopathy, Autosomal Dominant

artículo científico publicado en 2011

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

artículo científico publicado en 2009

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

artículo científico publicado en 2012

Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer.

artículo científico publicado en 1999

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree

artículo científico publicado en 2005

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

artículo científico publicado en 2005

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

artículo científico publicado en 2011

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

artículo científico publicado en 2011

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

artículo científico publicado en 2018

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

artículo científico publicado en 2004

Identification of microcephalin, a protein implicated in determining the size of the human brain

artículo científico publicado en 2002

Importance of molecular testing in dominant optic atrophy.

artículo científico publicado en 2002

Loss of CSMD1 disrupts mammary epithelial morphogenesis

artículo científico publicado en 2010

Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion ⬇️

artículo científico publicado en 2017

Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma.

artículo científico publicado en 2009

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

artículo científico publicado en 2009

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

artículo científico publicado en 1999

Mitral E wave propagation as an index of left ventricular diastolic function. I: Its hydrodynamic basis.

artículo científico publicado en 1998

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

artículo científico

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

artículo científico publicado en 2014

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

artículo científico publicado en 2004

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

artículo científico publicado en 2012

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

artículo científico publicado en 2016

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

artículo científico publicado en 2010

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

artículo científico publicado en 2006

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

artículo científico publicado en 2016

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

artículo científico publicado en 2011

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin ⬇️

artículo científico publicado en 2015

Null mutations in LTBP2 cause primary congenital glaucoma

artículo científico publicado en 2009

Polymorphisms in OPA1 are associated with normal tension glaucoma.

artículo científico publicado en 2003

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

artículo científico publicado en 2003

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

artículo científico publicado en 2013

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

artículo científico publicado en 2012

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5

artículo científico publicado en 2006

Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.

artículo científico publicado en 1998

Replication of the recessive STBMS1 locus but with dominant inheritance.

artículo científico publicado en 2009

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

artículo científico publicado en 2017

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

artículo científico publicado en 2004

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2001

The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2.

artículo científico publicado en 2015

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway ⬇️

artículo científico publicado en 2015

The natural history of OPA1-related autosomal dominant optic atrophy

artículo científico publicado en 2008

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

artículo científico publicado en 2003

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

artículo científico publicado en 2004

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

artículo científico publicado en 2006

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

artículo científico publicado en 2013

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

artículo científico publicado en 2013

Lista de obras de Carmel Toomes

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Analysis of candidate genes for macular telangiectasia type 2

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Changing the status quo bias.

Coinheritance of two rare genodermatoses (Papillon-Lefevre syndrome and oculocutaneous albinism type 1) in two families: a genetic study

Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome ⬇️

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. ⬇️

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene ⬇️

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

Familial Exudative Vitreoretinopathy, Autosomal Dominant

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer.

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Identification of microcephalin, a protein implicated in determining the size of the human brain

Importance of molecular testing in dominant optic atrophy.

Loss of CSMD1 disrupts mammary epithelial morphogenesis

Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion ⬇️

Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma.

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Mitral E wave propagation as an index of left ventricular diastolic function. I: Its hydrodynamic basis.

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin ⬇️

Null mutations in LTBP2 cause primary congenital glaucoma

Polymorphisms in OPA1 are associated with normal tension glaucoma.

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5

Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.

Replication of the recessive STBMS1 locus but with dominant inheritance.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway ⬇️

The natural history of OPA1-related autosomal dominant optic atrophy

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature