Lista de obras - Brian F Meyer - Dominio Público Uruguay

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population ⬇️

artículo científico publicado el 4 de julio de 2011

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

artículo científico publicado en 2013

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

artículo científico publicado en 2015

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1

artículo científico publicado en 2010

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

artículo científico publicado en 2011

A pressure overload model to track the molecular biology of heart failure

artículo científico publicado en 2003

A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease

artículo científico publicado en 2009

Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

artículo científico publicado en 2008

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

artículo científico publicado en 2012

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

artículo científico publicado en 2012

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

artículo científico publicado en 2012

Characterization of CTNS mutations in Arab patients with cystinosis

artículo científico publicado en 2009

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

artículo científico publicado en 2011

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

artículo científico publicado en 2012

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

scientific article published on 21 November 2011

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

scientific article published on 01 September 2006

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

artículo científico publicado en 2008

Developing a computer touch-screen interactive colorectal screening decision aid for a low-literacy African American population: lessons learned.

artículo científico publicado en 2012

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

artículo científico publicado en 2015

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

artículo científico publicado en 2006

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study

artículo científico publicado en 2006

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes

artículo científico publicado en 2008

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

artículo científico publicado en 2017

Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease

artículo científico publicado en 2009

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

artículo científico publicado en 2009

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin ⬇️

artículo científico publicado el 30 de junio de 2011

Identification of the tetraspanin CD82 as a new barrier to xenotransplantation.

artículo científico publicado en 2013

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

artículo científico publicado en 2008

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

artículo científico publicado en 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

artículo científico publicado en 2017

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

artículo científico publicado en 2015

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance

scientific article published on 01 April 2012

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

artículo científico publicado en 2002

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations

artículo científico publicado en 2011

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

artículo científico publicado en 2009

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population

artículo científico publicado en 2006

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

artículo científico publicado en 2012

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3.

artículo científico publicado en 2013

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets ⬇️

artículo científico publicado el 16 de octubre de 2012

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

artículo científico publicado en 2010

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

artículo científico publicado en 2010

Novel mutations underlying nephrogenic diabetes insipidus in Arab families

artículo científico publicado en 2006

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome

artículo científico publicado en 2006

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

artículo científico publicado en 2011

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

artículo científico publicado el 26 de marzo de 2013

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

artículo científico publicado en 2017

RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs)

scientific article published on 01 March 2002

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

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2

artículo científico publicado en 2012

Skin-homing CD8+ T lymphocytes show preferential growth in vitro and suppress CD4+ T-cell proliferation in patients with early stages of cutaneous T-cell lymphoma

artículo científico publicado en 2007

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

artículo científico publicado en 2009

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 peroxisome proliferator-activated receptor-gamma2 P12A polymorphism and type 2 diabetes in an Arab population

artículo científico publicado en 2006

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

artículo científico publicado en 2012

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

artículo científico publicado en 2016

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population

artículo científico publicado en 2008

Lista de obras de Brian F Meyer

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population ⬇️

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

A pressure overload model to track the molecular biology of heart failure

A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease

Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma

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

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

Associations of autozygosity with a broad range of human phenotypes

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

Characterization of CTNS mutations in Arab patients with cystinosis

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

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

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

Developing a computer touch-screen interactive colorectal screening decision aid for a low-literacy African American population: lessons learned.

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

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

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin ⬇️

Identification of the tetraspanin CD82 as a new barrier to xenotransplantation.

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3.

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets ⬇️

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

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

Novel mutations underlying nephrogenic diabetes insipidus in Arab families

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs)

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

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2

Skin-homing CD8+ T lymphocytes show preferential growth in vitro and suppress CD4+ T-cell proliferation in patients with early stages of cutaneous T-cell lymphoma

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

The enhanced S-cone syndrome in children.

The enhanced S-cone syndrome in children.

The peroxisome proliferator-activated receptor-gamma2 P12A polymorphism and type 2 diabetes in an Arab population

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population