Lista de obras - Mohammed A Aldahmesh - Dominio Público Uruguay

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

artículo científico publicado en 2010

A novel mutation in PRDM5 in brittle cornea syndrome

scientific article published on 29 November 2011

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

artículo científico publicado en 2010

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

artículo científico publicado en 2014

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

artículo científico publicado en 2009

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

scientific journal article

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

artículo científico publicado en 2012

Autozygosity mapping with exome sequence data

artículo científico publicado en 2012

Bilateral Duane syndrome and bilateral aniridia.

artículo científico publicado en 2006

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

artículo científico publicado en 2012

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

artículo científico publicado en 2010

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

artículo científico publicado en 2012

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

artículo científico publicado en 2012

Characterization of CTNS mutations in Arab patients with cystinosis

artículo científico publicado en 2009

Characterizing the morbid genome of ciliopathies. ⬇️

artículo científico publicado en 2016

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation

artículo científico publicado en 2013

Clinical Characterization of LRPAP1-Related Pediatric High Myopia

artículo científico publicado en 2015

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

artículo científico publicado en 2012

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

artículo científico publicado en 2009

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

artículo científico publicado en 2013

Congenital glaucoma and CYP1B1: an old story revisited

artículo científico publicado en 2018

Congenital glaucoma with acquired peripheral circumferential iris degeneration

artículo científico publicado en 2013

Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas

artículo científico publicado en 2016

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

artículo científico publicado en 2011

Corneal decompensation in recessive cornea plana

artículo científico publicado en 2009

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana

scientific article published on 01 September 2006

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

artículo científico publicado en 2013

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation

artículo científico publicado en 2008

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

artículo científico publicado en 2015

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

artículo científico publicado en 2015

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature

artículo científico publicado en 2006

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

scientific article published on 01 April 2011

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

artículo científico publicado en 2012

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

artículo científico publicado en 2009

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

artículo científico publicado en 2011

Genetic and genomic analysis of classic aniridia in Saudi Arabia.

artículo científico publicado en 2011

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

artículo científico publicado en 2012

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

artículo científico publicado en 2010

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother

artículo científico publicado en 2008

Homozygous null mutation in ODZ3 causes microphthalmia in humans

artículo científico publicado en 2012

Homozygous truncation of SIX6 causes complex microphthalmia in humans.

artículo científico publicado en 2012

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

artículo científico publicado en 2014

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

artículo científico publicado en 2011

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

artículo científico publicado en 2012

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.

artículo científico publicado en 2017

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis

artículo científico publicado en 2013

Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation

artículo científico publicado en 2013

MeltMADGE for mutation scanning of specific genes in population studies

artículo científico publicado en 2010

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype

artículo científico publicado en 2011

Molecular characterization of retinitis pigmentosa in Saudi Arabia

artículo científico publicado en 2009

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

artículo científico publicado en 2013

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

artículo científico publicado en 2005

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

artículo científico publicado en 2009

Mutations in ALDH1A3 cause microphthalmia.

artículo científico publicado en 2013

Mutations in LRPAP1 are associated with severe myopia in humans

artículo científico publicado en 2013

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

artículo científico publicado en 2013

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

artículo científico publicado en 2009

No evidence for locus heterogeneity in Knobloch syndrome

artículo científico publicado en 2013

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

artículo científico publicado en 2010

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

artículo científico publicado en 2016

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

artículo científico publicado en 2011

PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia

artículo científico publicado en 2008

Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.

artículo científico publicado en 2005

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

artículo científico publicado en 2012

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

artículo científico publicado en 2015

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos

artículo científico publicado en 2011

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

article published in 2007

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

scientific article published on 08 February 2012

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)

scientific article published on 15 October 2007

Recessive cornea plana in the Kingdom of Saudi Arabia

artículo científico publicado en 2006

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

artículo científico publicado en 2011

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.

artículo científico publicado en 2014

The distinct ophthalmic phenotype of Knobloch syndrome in children

artículo científico publicado en 2012

The enhanced S-cone syndrome in children.

artículo científico publicado en 2009

The enhanced S-cone syndrome in children.

artículo científico publicado en 2007

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18

artículo científico publicado en 2013

Lista de obras de Mohammed A Aldahmesh

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

A novel mutation in PRDM5 in brittle cornea syndrome

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

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

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Autozygosity mapping with exome sequence data

Bilateral Duane syndrome and bilateral aniridia.

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

Characterization of CTNS mutations in Arab patients with cystinosis

Characterizing the morbid genome of ciliopathies. ⬇️

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation

Clinical Characterization of LRPAP1-Related Pediatric High Myopia

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

Congenital glaucoma and CYP1B1: an old story revisited

Congenital glaucoma with acquired peripheral circumferential iris degeneration

Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

Corneal decompensation in recessive cornea plana

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

Genetic and genomic analysis of classic aniridia in Saudi Arabia.

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother

Homozygous null mutation in ODZ3 causes microphthalmia in humans

Homozygous truncation of SIX6 causes complex microphthalmia in humans.

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis

Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation

MeltMADGE for mutation scanning of specific genes in population studies

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype

Molecular characterization of retinitis pigmentosa in Saudi Arabia

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

Mutations in ALDH1A3 cause microphthalmia.

Mutations in LRPAP1 are associated with severe myopia in humans

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

No evidence for locus heterogeneity in Knobloch syndrome

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia

Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)

Recessive cornea plana in the Kingdom of Saudi Arabia

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.

The distinct ophthalmic phenotype of Knobloch syndrome in children

The enhanced S-cone syndrome in children.

The enhanced S-cone syndrome in children.

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18