Filtros de búsqueda

Lista de obras de Veronica van Heyningen

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus

artículo científico publicado en 1997

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

artículo científico publicado en 2016

A Simple Method for Ranking the Affinities of Monoclonal Antibodies ⬇️

artículo científico publicado el 26 de agosto de 1983

A clue to the basic defect in cystic fibrosis from cloning the CF antigen gene

artículo científico publicado en 1987

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

artículo científico publicado en 1995

A monoclonal antibody-based immunoassay for human lactoferrin

artículo científico publicado en 1985

A new PAX6 mutation in familial aniridia

artículo científico publicado en 1995

A new set of primers for mutation analysis of the human PAX6 gene

artículo científico publicado en 1998

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

artículo científico publicado en 2009

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

artículo científico publicado en 2017

A screening assay for monoclonal antibodies based on the availability of a polyclonal antiserum

artículo científico publicado en 1984

A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos

artículo científico publicado en 2014

Absence ofSIX6Mutations in Microphthalmia, Anophthalmia, and Coloboma

artículo científico publicado en 2004

Advice to governments: scientific give and take

An ordered sequence of expression of human MHC class-II antigens during B-cell maturation?

artículo científico publicado en 1983

Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids

artículo científico publicado en 1988

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

artículo científico publicado en 2001

Aniridia.

artículo científico publicado en 2012

Assignment of 112 Microsatellite Markers to 23 Chromosome 11 Subregions Delineated by Somatic Hybrids: Comparison with the Genetic Map

artículo científico publicado en 1994

Assignment of a gene necessary for the expression of mitochondrial glutamic-oxaloacetic transaminase in human-mouse hybrid cells

artículo científico publicado en 1978

Assignment of the Human RT6 Gene to 11q13 by PCR Screening of Somatic Cell Hybrids and in Situ Hybridization

article

Assignment of the genes for human mitochondrial malate dehydiogenase to chromosome 7, for mannose phosphate isomerase and pyruvate kinase to chromosome 15, and, probably, for human esterase-D to chromosome 13 using man-mouse hybrids

article

Assignment of the genes for mitochondrial malate dehydrogenase and for SV40 T-antigen to human chromosome 7 ⬇️

artículo científico publicado el 1 de enero de 1976

Assignment to chromosome 16 of a gene necessary for the expression of human mitochondrial glutamate oxaloacetate transaminase (aspartate aminotransferase) (E.C. 2.6.1.1.)

artículo científico publicado en 1980

Association between pregnancy-associated alpha2-glycoprotein (alpha2-PAG) and mixed leucocyte reaction determinants on the leucocyte surface

artículo científico publicado en 1979

Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation

artículo científico publicado en 2007

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

artículo científico publicado en 2007

Biological properties of a tumour cell line (NB1-G) derived from human neuroblastoma

artículo científico publicado en 1987

Changing tack on the map

scientific article published on 01 June 1996

Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance

artículo científico publicado en 2002

Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype

artículo científico publicado en 1996

Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13

artículo científico publicado el 1 de enero de 1975

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis

scientific journal article

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

scientific article published on 27 March 2013

Clinical utility gene card for: Aniridia

artículo científico publicado en 2016

Clinical utility gene card for: WAGR syndrome

artículo científico publicado en 2011

Cognitive functioning in humans with mutations of the PAX6 gene.

artículo científico publicado en 2004

Colocalization of the human CD59 gene to 11p13 with the MIC11 cell surface antigen

artículo científico publicado en 1993

Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

artículo científico publicado en 1997

Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13.

artículo científico publicado en 1998

Congenital Abnormalities and SOX2 Mutations

Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription

artículo científico publicado en 2004

Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization

artículo científico publicado en 2007

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia

artículo científico publicado en 1989

Cultured epithelial cells from patients with Cystic Fibrosis have an increased expression of the 14 kDa Ca2+-binding protein CFA

artículo científico publicado en 1991

Cystic fibrosis: In search of the gene

artículo científico publicado en 1984

Cystic fibrosis: from linked markers to the gene

article

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations

artículo científico publicado en 1995

DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region

artículo científico publicado en 2011

Dads and disomy and disease

artículo científico publicado en 1991

Deficient auditory interhemispheric transfer in patients with PAX6 mutations

artículo científico publicado en 2004

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

artículo científico publicado en 2009

Developmental eye disease--a genome era paradigm.

artículo científico publicado en 1998

Developmental eye disorders

artículo científico publicado en 2005

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

artículo científico publicado en 2006

Differential expression and serologically distinct subpopulations of human Ia antigens detected with monoclonal antibodies to Ia alpha and beta chains

artículo científico publicado en 1982

Dinucleotide repeat polymorphism at the D11S995 locus

artículo científico publicado en 1993

Discovery and assessment of conserved Pax6 target genes and enhancers

artículo científico publicado en 2011

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

artículo científico publicado en 2013

Distribution of nonmuscle actin during Xenopus laevis development

artículo científico publicado el 1 de enero de 1992

Do children with diffuse mesangial sclerosis in association with mutations of the Wilms' tumour suppressor gene (WT1) require bilateral nephrectomy?

article

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

artículo científico publicado en 2002

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

artículo científico

EYA4, a novel vertebrate gene related to Drosophila eyes absent

artículo científico publicado en 1999

EagI and NotI linking clones from human chromosomes 11 and Xp.

artículo científico publicado en 1996

Enhanced expression of human Ia antigens by chronic lymphocytic leukemia cells following treatment with 12-O-tetradecanoylphorbol-13-acetate

artículo científico publicado en 1983

Enzyme-linked immunospecific assays for human alphafetoprotein using monoclonal antibodies

artículo científico publicado en 1982

Equivalent expression of paternally and maternally inherited WT1 alleles in normal fetal tissue and Wilms' tumours

artículo científico publicado el 1 de abril de 1992

Erratum: Mouse Small eye results from mutation in a paired-like homebox-containing gene

artículo científico publicado en 1992

Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion

scientific article published on 01 March 1993

Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18.

artículo científico publicado en 2005

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

artículo científico publicado en 2008

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia

artículo científico publicado en 2002

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish

artículo científico publicado en 2015

Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse

artículo científico publicado en 2006

Further intricacy of HLA-DR antigens

scientific article published on 01 September 1982

GDF6, a novel locus for a spectrum of ocular developmental anomalies

artículo científico publicado en 2007

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

artículo científico publicado en 2016

Genetic Control of Mitochondrial Enzymes in Human–Mouse Somatic Cell Hybrids

artículo científico publicado en 1973

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

article

Genetics of disease

Genome sequencing-the dawn of a game-changing era

artículo científico publicado en 2019

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

artículo científico publicado en 2017

Hemolytic uremic syndrome associated with Denys-Drash syndrome

artículo científico publicado en 2000

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

artículo científico publicado en 2014

Heterozygous mutations of OTX2 cause severe ocular malformations

artículo científico publicado en 2005

High-resolution localization of 69 potential human zinc finger protein genes: A number are clustered

article

Hitch-hiking from HRAS1 to the WAGR locus with CMGT markers.

artículo científico publicado en 1988

Hsp90 selectively modulates phenotype in vertebrate development

artículo científico publicado en 2007

Human MHC class II molecules as differentiation markers.

artículo científico publicado en 1982

Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups

artículo científico publicado en 1992

Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I

article

Human-mouse hybrids carrying fragments of single human chromosomes selected by tumor growth

artículo científico publicado en 1989

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

artículo científico publicado en 2014

In utero nephropathy, Denys-Drash syndrome and Potter phenotype

artículo científico publicado en 1998

Incapacitating the evolutionary capacitor: Hsp90 modulation of disease

artículo científico publicado en 2008

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

artículo científico publicado en 2009

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities

artículo científico publicado en 1996

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

artículo científico publicado en 2007

Introduction: Genetic approaches to human developmental syndromes

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability

artículo científico publicado en 2017

Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis

artículo científico publicado en 2014

Long-range control of gene expression. Preface.

artículo científico publicado en 2008

Long-range control of gene expression: emerging mechanisms and disruption in disease

artículo científico publicado en 2004

Long-range downstream enhancers are essential for Pax6 expression

artículo científico publicado en 2006

Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

artículo científico publicado en 2015

Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3

artículo científico publicado en 2010

Long-range structure of H-ras 1-selected transgenomes.

artículo científico publicado en 1989

Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour

artículo científico publicado en 1998

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations

artículo científico publicado en 2009

Mapping a chromosome to find a gene

article

Mechanisms of non-Mendelian inheritance in genetic disease

artículo científico publicado en 2004

Micronucleus frequencies in lymphoblastoid cell lines measured with the cytokinesis-block technique and flow cytometry

artículo científico publicado en 1995

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

artículo científico publicado en 1999

Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wt1 gene transcript

artículo científico publicado en 1992

Molecular analysis of a human PAX6 homeobox mutant

artículo científico publicado en 2006

Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome

scientific article published on December 1985

Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants

artículo científico publicado en 1986

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

artículo científico publicado en 2014

Monoclonal antibodies against HLA-DR antigens acting on stimulator cells prevent OKT8+ T lymphocytes from acquiring sensitivity to interleukin 2 and expressing suppressor function

scientific article published on 01 January 1983

Monoclonal antibodies for use in an immunoradiometric assay for α-foetoprotein

artículo científico publicado en 1982

Monoclonal antibodies to cystic fibrosis antigen

artículo científico publicado en 1986

Monoclonal antibodies to human α-foetoprotein: Analysis of the behaviour of three different antibodies

scientific article published on 01 January 1982

Mouse mutations and human disorders are paired

artículo científico publicado en 1992

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

artículo científico publicado en 1994

Mutations in SOX2 cause anophthalmia

artículo científico publicado en 2003

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

artículo científico publicado en 2006

Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

artículo científico publicado en 2002

New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region

artículo científico publicado en 2002

One gene—four syndromes

artículo científico publicado en 1994

PAX genes in human developmental anomalies

article

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

artículo científico publicado en 2001

PAX6 in sensory development

artículo científico publicado en 2002

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

artículo científico publicado en 2001

PAX6 mutations reviewed

artículo científico publicado en 1998

PAX6, brain structure and function in human adults: advanced MRI in aniridia

artículo científico publicado en 2016

PAX6Mutations May Be Associated with High Myopia

scholarly article by Alex W. Hewitt et al published January 2007 in Ophthalmic Genetics

PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS WITH A MONOCLONAL ANTIBODY SPECIFIC FOR ACETYLCHOLINESTERASE

artículo científico publicado en 1985

Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling

scientific journal article

Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors.

artículo científico publicado en 2002

Pax6: more than meets the eye.

artículo científico publicado en 1995

Physical mapping of 38 highly informative genetic markers to 10 intervals of chromosome 11q: integration of the physical and genetic maps

artículo científico publicado en 1994

Placement and refined mapping of established and new markers on human chromosome 11q using a small panel of somatic cell hybrids

artículo científico publicado en 1995

Pleiotropic effects of Sox2 during the development of the zebrafish epithalamus

artículo científico publicado en 2014

Polymicrogyria and absence of pineal gland due to PAX6 mutation

artículo científico publicado en 2003

Position effect in human genetic disease

artículo científico publicado en 1998

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

artículo científico publicado en 1991

Prenatal diagnosis of cystic fibrosis using a monoclonal antibody specific for intestinal alkaline phosphatase

artículo científico publicado en 1984

Probable assignment of the locus determining human red cell acid phosphatase ACP1 to chromosome 2 using somatic cell hybrids

artículo científico publicado en 1974

Production of high affinity monoclonal antibodies to deoxycorticosterone

scientific article published on 01 April 1984

Professor Sue Povey (1942-2019). Former Editor-in-Chief of the Annals of Human Genetics, died January 11th 2019

artículo científico publicado en 2019

Quantitative MR image analysis in subjects with defects in the PAX6 gene

artículo científico publicado en 2003

Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion

artículo científico publicado en 2007

Reassessment of breakpoints in chromosome 11p15.

artículo científico publicado en 1993

Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

artículo científico publicado en 2019

Regional localization of the sperm-specific lactate dehydrogenase, LDHC, gene on human chromosome 11.

artículo científico publicado en 1989

Regulation from a distance: long-range control of gene expression in development and disease

artículo científico publicado en 2013

Related calcium-binding proteins map to the same subregion of chromosome 1q and to an extended region of synteny on mouse chromosome 3

scientific journal article

Report of the Second Chromosome 11 Workshop

artículo científico publicado en 1992

Report of the fourth international workshop on human chromosome 11 mapping 1994

artículo científico publicado en 1995

Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11

scientific article published on 01 February 1988

Role for the Wilms tumor gene in genital development?

artículo científico publicado en 1990

Role of SOX2 mutations in human hippocampal malformations and epilepsy

artículo científico publicado en 2006

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

SOX2 anophthalmia syndrome.

artículo científico publicado en 2005

SV40-mediated tumor selection and chromosome transfer to enrich for cystic fibrosis region

artículo científico publicado en 1990

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences

artículo científico publicado en 2013

Serum concentrations of a granulocyte-derived calcium-binding protein in cystic fibrosis patients and heterozygotes

artículo científico publicado en 1987

Short cut to disease genes

artículo científico publicado en 2001

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

artículo científico publicado en 2008

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization

artículo científico publicado en 1992

Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing

artículo científico publicado en 1995

Subunit structure of calgranulins A and B obtained from sputum, plasma, granulocytes and cultured epithelial cells

artículo científico publicado en 1992

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

artículo científico publicado en 1997

The Human PAX6 Mutation Database

artículo científico

The beta2-microglobulin gene is on chromosome 15 and not in the HL-A region

artículo científico publicado en 1975

The development of resistance to methotrexate in a mouse melanoma cell line. I. Characterisation of the dihydrofolate reductases and chromosomes in sensitive and resistant cells

artículo científico publicado en 1979

The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas

artículo científico publicado en 2013

The distal region of 11p13 and associated genetic diseases

artículo científico publicado en 1991

The facts on cystic fibrosis testing

artículo científico publicado en 1986

The generation of ordered sets of cosmid DNA clones from human chromosome region 11p

artículo científico publicado en 1992

The human BDNF gene maps between FSHB and HVBS1 at the boundary of 11p13-p14.

artículo científico publicado en 1992

The human PAX6 gene is mutated in two patients with aniridia

artículo científico publicado en 1992

The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis

artículo científico publicado en 1994

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

artículo científico publicado en 1997

The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis

scientific journal article

The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse

artículo científico publicado en 1997

Tissue localization and chromosomal assignment of a serum protein that tracks the cystic fibrosis gene

artículo científico publicado en 1985

Transcription factors in disease

artículo científico publicado en 1996

Transmeiotic differentiation of male germ cells in culture

artículo científico

Turned off by RNA

artículo científico publicado en 2003

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

artículo científico publicado en 2019

Use of catalase polymorphisms in the study of sporadic aniridia

scientific article published on 01 June 1986

Wilms' tumour: reconciling genetics and biology

artículo científico publicado en 1992

Zinc finger point mutations within the WT1 gene in Wilms tumor patients

artículo científico publicado en 1992

[44] A simple method for ranking the affinities of monoclonal antibodies

scientific article published on 01 January 1986

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda