Lista de obras - Nicholas Lench - Dominio Público Uruguay

(CGG) trinucleotide repeat polymorphism in the 5' region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6

artículo científico publicado en 1995

A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers

artículo científico publicado en 1987

A human ubiquitin conjugating enzyme, L-UBC, maps in the Alzheimer's disease locus on chromosome 14q24.3

artículo científico publicado en 1995

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

artículo científico publicado en 2000

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

artículo científico publicado en 2013

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation

artículo científico publicado en 2014

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.

artículo científico publicado en 2014

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

artículo científico publicado en 2018

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

artículo científico publicado en 2000

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

artículo científico publicado en 2016

Amelogenesis imperfecta in triplets: a unique family record

artículo científico publicado en 1995

An EST and STS-based YAC contig map of human chromosome 9q22.3

artículo científico publicado en 1996

An anonymous DNA probe (NL32) recognises a MspI polymorphism on human chromosome 1 [D1S84].

artículo científico publicado en 1988

Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities

artículo científico publicado en 2012

Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization

artículo científico publicado en 1997

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

artículo científico publicado en 1998

AvaII RFLP detected by the anonymous DNA segment p10E5.SC1 [D11S806] on chromosome 11q22-23.

artículo científico publicado en 1991

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1) ⬇️

artículo científico publicado el 1 de enero de 1995

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

artículo científico publicado en 2014

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

artículo científico publicado en 1991

Comparative genetic mapping for the identification of novel diagnostic and therapeutic targets.

artículo científico publicado en 1994

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization

artículo científico publicado en 2013

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

artículo científico publicado en 1998

DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.

artículo científico publicado en 1999

DNA diagnosis of X-linked amelogenesis imperfecta (AIH1)

scientific article published on 01 March 1997

Detection of a novel mutation in X-linked amelogenesis imperfecta

artículo científico publicado en 2000

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

artículo científico publicado en 1988

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

artículo científico publicado en 2014

Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.

artículo científico publicado en 2013

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

artículo científico publicado en 2015

Extent and distribution of linkage disequilibrium in three genomic regions

artículo científico publicado en 2000

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor

artículo científico publicado en 2015

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

artículo científico publicado en 2009

Fine mapping of theIBD1 locus did not identify Crohn disease-associatedNOD2 variants: Implications for complex disease genetics

article

Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia

artículo científico publicado en 2014

Genetics--getting personal

artículo científico publicado en 2008

Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome.

artículo científico publicado en 1992

Immunoglobulin gene rearrangements in lymphoplasmacytic infiltrates of labial salivary glands in Sjögren's syndrome. A possible predictor of lymphoma development.

artículo científico publicado en 1995

Inflammatory Bowel Disease Is Linked to 19p13 and Associated with ICAM-1

artículo científico publicado en 2004

Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family

artículo científico publicado en 1999

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

artículo científico publicado en 2013

Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications.

artículo científico publicado en 1985

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

artículo científico publicado en 1999

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

artículo científico publicado en 2012

Molecular prenatal diagnosis: the impact of modern technologies.

artículo científico publicado en 2010

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

artículo científico publicado en 2013

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

artículo científico publicado en 2015

Positional cloning of a novel gene influencing asthma from chromosome 2q14.

artículo científico publicado en 2003

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

artículo científico publicado en 1998

Prostate-specific membrane antigen: evidence for the existence of a second related human gene ⬇️

artículo científico publicado en 1995

RFLP identified by the anonymous DNA segment pBAM34 at 19q13.3-qter [HGM8 assignment D19S6].

artículo científico publicado en 1986

Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3)

article published in 2001

SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1)

artículo científico publicado en 1994

ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis.

artículo científico publicado en 1990

Simple non-invasive method to obtain DNA for gene analysis

scientific article published on 01 June 1988

Single-Point Haplotype Scores Telomeric to Human Leukocyte Antigen-C Give a High Susceptibility Major Histocompatability Complex Haplotype for Psoriasis in a Caucasian Population

scientific article published on 01 March 2005

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

artículo científico publicado en 2011

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

artículo científico publicado en 2014

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants

artículo científico publicado en 2003

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

artículo científico

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

artículo científico publicado en 2013

The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2.

artículo científico publicado en 1997

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

artículo científico publicado en 1999

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions

artículo científico publicado en 2011

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

artículo científico publicado en 2013

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

artículo científico publicado en 2014

YAC clones that extend the human chromosome 12cen-12q15 region contig map.

artículo científico publicado en 1996

cDNA cloning, genomic organization, and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C.

artículo científico publicado en 1998

Lista de obras de Nicholas Lench

(CGG) trinucleotide repeat polymorphism in the 5' region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6

A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers

A human ubiquitin conjugating enzyme, L-UBC, maps in the Alzheimer's disease locus on chromosome 14q24.3

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Amelogenesis imperfecta in triplets: a unique family record

An EST and STS-based YAC contig map of human chromosome 9q22.3

An anonymous DNA probe (NL32) recognises a MspI polymorphism on human chromosome 1 [D1S84].

Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities

Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

AvaII RFLP detected by the anonymous DNA segment p10E5.SC1 [D11S806] on chromosome 11q22-23.

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1) ⬇️

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

Comparative genetic mapping for the identification of novel diagnostic and therapeutic targets.

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.

DNA diagnosis of X-linked amelogenesis imperfecta (AIH1)

Detection of a novel mutation in X-linked amelogenesis imperfecta

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Extent and distribution of linkage disequilibrium in three genomic regions

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

Fine mapping of theIBD1 locus did not identify Crohn disease-associatedNOD2 variants: Implications for complex disease genetics

Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia

Genetics--getting personal

Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome.

Immunoglobulin gene rearrangements in lymphoplasmacytic infiltrates of labial salivary glands in Sjögren's syndrome. A possible predictor of lymphoma development.

Inflammatory Bowel Disease Is Linked to 19p13 and Associated with ICAM-1

Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications.

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

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

Molecular prenatal diagnosis: the impact of modern technologies.

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

Positional cloning of a novel gene influencing asthma from chromosome 2q14.

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Prostate-specific membrane antigen: evidence for the existence of a second related human gene ⬇️

RFLP identified by the anonymous DNA segment pBAM34 at 19q13.3-qter [HGM8 assignment D19S6].

Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3)

SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1)

ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis.

Simple non-invasive method to obtain DNA for gene analysis

Single-Point Haplotype Scores Telomeric to Human Leukocyte Antigen-C Give a High Susceptibility Major Histocompatability Complex Haplotype for Psoriasis in a Caucasian Population

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2.

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

YAC clones that extend the human chromosome 12cen-12q15 region contig map.

cDNA cloning, genomic organization, and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C.