Lista de obras - Andrew Green - Dominio Público Uruguay

?True? sporadic ALS associated with a novel SOD-1 mutation

article by Michael D. Alexander et al published 24 October 2002 in Annals of Neurology

A genome-wide association study of recipient genotype and medium-term kidney allograft function

artículo científico publicado en 2013

A genome-wide scan for genes involved in primary vesicoureteric reflux.

artículo científico publicado en 2007

A locus for isolated cleft palate, located on human chromosome 2q32

artículo científico publicado en 1999

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.

scientific article published on 07 July 2013

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

A novel candidate region for ALS on chromosome 14q11.2.

artículo científico publicado en 2004

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

artículo científico publicado en 2015

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

artículo científico publicado en 2016

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

artículo científico publicado en 2006

Activation of normal neutrophils by anti-neutrophil cytoplasm antibodies

artículo científico publicado el 1 de noviembre de 1992

Aggressive medullary thyroid cancer, an analysis of the Irish National Cancer Registry.

artículo científico publicado en 2016

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

artículo científico publicado en 1996

AnEcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene

article

Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux.

artículo científico publicado en 2002

Antley-Bixler syndrome with radioulnar synostosis

Asymptomatic abdominal aortic aneurysm

artículo científico publicado en 1992

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

artículo científico publicado en 2011

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies

artículo científico publicado en 2016

Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).

artículo científico publicado en 2003

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

artículo científico publicado en 2008

Cascade screening in BRCA1/2 mutation carriers.

artículo científico publicado en 2008

Chimaerism shown by cytogenetics and DNA polymorphism analysis.

artículo científico publicado en 1994

Clinical and histopathologic findings in adults with the nephrotic syndrome

artículo científico publicado en 1990

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

artículo científico

Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation.

artículo científico publicado en 1996

Constitutional trisomy 8 and Behçet syndrome.

artículo científico publicado en 2009

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

scientific journal article

Detection of novel germline mutations for breast cancer in non-BRCA1/2 families

artículo científico publicado en 2015

Diagnostic review of 66 children with learning disability attending a single centre.

artículo científico publicado en 2001

Direct single stranded sequencing from agarose of polymerase chain reaction products.

artículo científico publicado en 1990

Down syndrome in association with features of the androgen insensitivity syndrome.

artículo científico publicado en 1996

Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication

artículo científico publicado en 2002

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

artículo científico publicado en 2016

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

artículo científico publicado en 2016

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

artículo científico publicado en 2010

Familial breast cancer genetic testing in the West of Ireland.

artículo científico publicado en 2013

Familial vesicoureteral reflux: influence of sex on prevalence and expression

artículo científico publicado en 2006

Family Communication in Inherited Cardiovascular Conditions in Ireland

artículo científico publicado en 2016

Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome

artículo científico publicado en 2013

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis ⬇️

artículo científico publicado el 1 de diciembre de 1997

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

artículo científico publicado en 2009

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

artículo científico publicado en 2011

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

artículo científico publicado en 2006

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Genetic conditions in the Irish Roma gypsy population.

artículo científico publicado en 2005

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

artículo científico publicado en 2014

Germline duplication of chromosome 2p and neuroblastoma.

artículo científico publicado en 1997

Health of the world's Roma population

artículo científico publicado en 2006

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux

artículo científico publicado en 2013

How good a model is the Fugu genome?

artículo científico publicado en 1997

Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.

artículo científico publicado en 2010

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Interstitial deletion of chromosome 21q and schizophrenia susceptibility

artículo científico publicado en 2005

Late-onset central hypoventilation syndrome: a family genetic study.

artículo científico publicado en 2007

Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.

artículo científico

London Dysmorphology Database and London Neurogenetics Database with Photo Library.

artículo científico publicado en 1997

Loss of heterozygosity in tuberous sclerosis hamartomas.

artículo científico publicado en 1996

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

artículo científico publicado en 1994

MUTYH-Associated Polyposis: The Irish Experience>.

artículo científico publicado en 2016

Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19.

artículo científico publicado en 2004

Maternal 47,XX,i(X)(q10) as a cause of false positive sex chromosome aneuploidy in noninvasive prenatal screening

artículo científico publicado en 2016

Medullary carcinoma of the pancreas in a man with hereditary nonpolyposis colorectal cancer due to a mutation of the MSH2 mismatch repair gene

artículo científico publicado en 2006

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.

artículo científico

Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.

artículo científico publicado en 2003

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

artículo científico publicado en 1998

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

artículo científico publicado en 1997

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

artículo científico publicado en 2012

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

artículo científico publicado en 2016

Phenotypic analysis of familial breast cancer: comparison of BRCAx tumors with BRCA1-, BRCA2-carriers and non-familial breast cancer.

artículo científico publicado en 2015

Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland

artículo científico

Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies

artículo científico publicado en 2015

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients

artículo científico publicado en 2010

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

artículo científico publicado en 2015

Recurrent glomerulonephritis in renal transplants: fourteen years' experience.

artículo científico publicado en 1989

Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.

artículo científico publicado en 2017

Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas.

artículo científico publicado en 2002

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

artículo científico publicado en 2005

Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers.

artículo científico publicado en 2017

Sensorineural hearing loss in children

artículo científico publicado en 2010

Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome

artículo científico publicado en 1995

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

artículo científico publicado en 2013

Solid phase PCR sequencing of biotinylated products

artículo científico publicado en 1993

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study ⬇️

artículo científico publicado el 1 de octubre de 1997

Sternal cleft malformation in a newborn.

artículo científico publicado en 2017

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

artículo científico publicado en 2010

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Successful Treatment with Cyclosporin of Nephrotic Syndrome due to Focal Segmental Glomerulosclerosis Recurring in a Renal Transplant

artículo científico publicado en 1990

The A-Z Reference Book of Syndromes and Inherited Disorders.

artículo científico publicado en 1996

The Walker-Warburg or a new syndrome?

artículo científico publicado en 1996

The Walker-Warburg phenotype and genotype among Irish Travellers.

artículo científico publicado en 2008

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

artículo científico publicado en 1997

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

artículo científico publicado en 2007

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

article

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

artículo científico publicado en 2010

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux

artículo científico publicado en 2005

Xp22.3 Microdeletion in a 19-Year-Old Girl with Clinical Features of MLS Syndrome

scientific article published on 01 March 2003

Lista de obras de Andrew Green

?True? sporadic ALS associated with a novel SOD-1 mutation

A genome-wide association study of recipient genotype and medium-term kidney allograft function

A genome-wide scan for genes involved in primary vesicoureteric reflux.

A locus for isolated cleft palate, located on human chromosome 2q32

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

A novel candidate region for ALS on chromosome 14q11.2.

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Activation of normal neutrophils by anti-neutrophil cytoplasm antibodies

Aggressive medullary thyroid cancer, an analysis of the Irish National Cancer Registry.

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

AnEcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene

Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux.

Antley-Bixler syndrome with radioulnar synostosis

Asymptomatic abdominal aortic aneurysm

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies

Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

Cascade screening in BRCA1/2 mutation carriers.

Chimaerism shown by cytogenetics and DNA polymorphism analysis.

Clinical and histopathologic findings in adults with the nephrotic syndrome

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation.

Constitutional trisomy 8 and Behçet syndrome.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Detection of novel germline mutations for breast cancer in non-BRCA1/2 families

Diagnostic review of 66 children with learning disability attending a single centre.

Direct single stranded sequencing from agarose of polymerase chain reaction products.

Down syndrome in association with features of the androgen insensitivity syndrome.

Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Familial breast cancer genetic testing in the West of Ireland.

Familial vesicoureteral reflux: influence of sex on prevalence and expression

Family Communication in Inherited Cardiovascular Conditions in Ireland

Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis ⬇️

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

Functional impact of global rare copy number variation in autism spectrum disorders

Genetic conditions in the Irish Roma gypsy population.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Germline duplication of chromosome 2p and neuroblastoma.

Health of the world's Roma population

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux

How good a model is the Fugu genome?

Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.

Individual common variants exert weak effects on the risk for autism spectrum disorders

Interstitial deletion of chromosome 21q and schizophrenia susceptibility

Late-onset central hypoventilation syndrome: a family genetic study.

Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.

London Dysmorphology Database and London Neurogenetics Database with Photo Library.

Loss of heterozygosity in tuberous sclerosis hamartomas.

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

MUTYH-Associated Polyposis: The Irish Experience>.

Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19.

Maternal 47,XX,i(X)(q10) as a cause of false positive sex chromosome aneuploidy in noninvasive prenatal screening

Medullary carcinoma of the pancreas in a man with hereditary nonpolyposis colorectal cancer due to a mutation of the MSH2 mismatch repair gene

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.

Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

Phenotypic analysis of familial breast cancer: comparison of BRCAx tumors with BRCA1-, BRCA2-carriers and non-familial breast cancer.

Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland

Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Recurrent glomerulonephritis in renal transplants: fourteen years' experience.

Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.

Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas.

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype