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List of works by Peter J Scambler

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development

scientific article published on April 2010

22q11.2 deletion syndrome

scientific article published on 19 November 2015

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly

scientific article

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome

scientific article (publication date: May 2002)

A coming of age: advanced imaging technologies for characterising the developing mouse

scientific article published on 12 September 2013

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

article

A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development

scientific journal article

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

scientific article

A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11 ⬇️

scientific article published on November 1, 1997

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome

scientific article published on 10 November 2004

A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.

scientific article

A rapid and sensitive assay for quantification of siRNA efficiency and specificity

scientific article

A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.

scientific article

Absence of the vagus nerve in the stomach of Tbx1−/− mutant mice ⬇️

scientific article published on October 11, 2010

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function

scientific article (publication date: April 2003)

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

scientific journal article

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

scientific article published on December 1988

Analysis of Coronary Vessels in Cleared Embryonic Hearts

scientific article

Analysis of the transgenome of MET transfectant cell lines reveals that MET activation is accompanied by an interstitial insertion.

scientific article published on February 1990

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

scientific article

Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis.

scientific article published on July 1987

CHD7 maintains neural stem cell quiescence and prevents premature stem cell depletion in the adult hippocampus.

scientific article published in January 2015

COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome

scientific article published in July 2005

Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus.

scientific article published on 9 July 2016

Cardiac phenotyping in ex vivo murine embryos using microMRI.

scientific article published in October 2009

Cardiovascular GO annotation initiative year 1 report: why cardiovascular GO?

scientific article published on May 2008

Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome.

scientific article published in January 1996

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

scientific article published in October 2007

Clinical and molecular effects of CHD7 in the heart.

scientific article published on 31 October 2017

Clinical and molecular study of DiGeorge sequence

scientific article published in November 1994

Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans

scientific article

Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.

scientific article published in August 1998

Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein.

scientific article published in May 1997

Cloning of HOX D1 from unfertilised human oocytes and expression analyses during murine oogenesis and embryogenesis ⬇️

scientific article published on December 1, 2001

Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1

scientific journal article

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

scientific article published in June 1991

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

scientific article

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

scientific article

Common arterial trunk associated with a homeodomain mutation of NKX2.6

scientific article

Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?

scientific article published on 01 April 1993

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

scientific article

Correction: Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome.

scientific article published on 2 January 2014

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

scientific article published on 29 March 2016

Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick

scientific article published on 17 October 2006

Cystic fibrosis

scientific article published in Nature

Defective Vagal Innervation in Murine Tbx1 Mutant Hearts

scientific article published on 23 September 2018

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

scientific article published in November 1999

Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families ⬇️

scientific article published on October 1, 1998

Deletions of human chromosome 22 and associated birth defects.

scientific article

Deletions within chromosome 22q11 in familial congenital heart disease

scientific article published in The Lancet

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

scientific article published on 24 December 2013

DiGeorge syndrome: part of CATCH 22.

scientific article

Differential gene expression in the hippocampus of the Df1/+ mice: a model for 22q11.2 deletion syndrome and schizophrenia.

scientific article published on 10 January 2007

Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model

scientific article published on 13 March 2014

Direct Selection of Conserved cDNAs from the DiGeorge Critical Region: Isolation of a Novel CDC45-Like Gene ⬇️

scientific article published on August 1, 1998

Distinct factors control histone variant H3.3 localization at specific genomic regions

scientific article

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene ⬇️

scientific article published on April 1, 1998

Endogenous retinoic acid activity in principal cells and intercalated cells of mouse collecting duct system

scientific article

Engineering a broken heart

scientific article published in Nature

Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology

scientific article published on 4 December 2012

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique

scientific article

Evolving concepts in human renal dysplasia

scientific article published on April 2004

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

Expression of Fraser syndrome genes in normal and polycystic murine kidneys.

scientific article published on 13 October 2011

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES

scientific article published in The Lancet

Familial gigantism caused by an NSD1 mutation

scientific article published in November 2005

Fluid-structure interaction study of the edge-to-edge repair technique on the mitral valve

scientific article published on 20 July 2011

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice

scientific article

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli

scientific article published on 11 September 2008

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

scientific article

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

scientific article

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

scientific article

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

scientific article

Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele

scientific article published on 23 July 2012

Genetic homogeneity of cystic fibrosis

scientific article

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

scientific article

Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome

scientific article

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

scientific article (publication date: 15 February 2002)

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

scientific journal article

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region

scientific article published on 18 April 2014

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3

scientific article (publication date: 2016)

HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.

scientific article published in February 1999

Hearing loss in a mouse model of 22q11.2 Deletion Syndrome

scientific article

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

scientific journal article

Histone Chaperone HIRA in Regulation of Transcription Factor RUNX1.

scientific article published on 6 April 2015

Human haploinsufficiency — one for sorrow, two for joy

article published in 1994

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome

scientific article

Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells.

scientific article

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

scientific article

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

scientific article (publication date: May 2005)

Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome

scientific article

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Identification of twelve new RFLP-markers on chromosome 22q11-qter

article

In amnio MRI of mouse embryos

scientific article (publication date: 2014)

Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

scientific article published on 4 September 2015

Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis

scientific article published on 01 August 1994

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.

scientific article published on January 1992

Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis

scientific article

Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

scientific article published on October 1993

Isolation of a polymorphic DNA sequence (lambda 82B, D8S2) from chromosome eight.

scientific article

Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome.

scientific article published in April 1992

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

scientific article published in November 1985

Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19

article

Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis

scientific article

Localization of cystic fibrosis locus to human chromosome 7cen–q22

scientific article published in Nature

Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour ⬇️

scientific article published on July 23, 1998

Loss of heterozygosity on chromosome 16 in sporadic Wilms' tumour.

scientific article

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

scientific article published on February 1993

MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome

scientific journal article

Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping

scientific article

Mapping of the Tuple1 Gene to Mouse Chromosome 16A-B1

article

Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1

article

Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome

article

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

scientific article published on May 1991

Mitral valve dynamics in structural and fluid-structure interaction models

scientific article published on 10 August 2010

Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

scientific article published on August 1993

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

scientific article

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene

scientific article

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis ⬇️

scientific article published on May 1, 1998

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

scientific article

Mutations in GRIP1 cause Fraser syndrome

scientific article

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

scientific article published on October 2003

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

scientific article published in July 1999

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

scientific article (publication date: 15 April 2005)

Nephrin deficiency activates NF-kappaB and promotes glomerular injury

scientific article published on 04 June 2009

Neural crest-derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation

scientific article

No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity

article

Noonan's and DiGeorge syndromes with monosomy 22q11.

scientific article published on February 1993

Novel exomphalos genetic mouse model: the importance of accurate phenotypic classification

scientific article

Partial DiGeorge syndrome in two patients with a 10p rearrangement.

scientific article published in April 1999

Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus.

scientific article published on May 1987

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy.

scientific article

Possible role for COMT in psychosis associated with velo-cardio-facial syndrome

scientific article published in November 1992

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

scientific article

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

article published in 2001

Report and abstracts of the Fourth International Workshop on Human Chromosome 22 mapping 1994. Cambridge, United Kingdom, July 2-4, 1994

scientific article published on 01 January 1994

Report of the third international workshop on human chromosome 22 mapping.

scientific article

Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

scientific article published on April 2005

Retracted: Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

retracted article

RhoE regulates actin cytoskeleton organization and cell migration.

scientific article published on August 1998

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

scientific article published on 01 February 1993

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

scientific article

Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation

scientific article published on 3 May 2012

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

scientific article

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

scientific article published on October 1, 1997

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

scientific article

Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.

scientific article

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

scientific article published on 01 March 1995

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

scientific article published on October 2010

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

scientific journal article

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

scientific article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality

scientific journal article

Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling

scientific article published on 25 September 2012

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

scientific article

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

scientific article (publication date: March 2001)

Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm

scientific article published in February 2007

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.

scientific article published on 19 June 2012

The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development

scientific article published on May 2015

The Nfe2l1 gene maps to distal mouse Chromosome 11

article

The Renal Gene Ontology Annotation Initiative

scientific article

The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4.

scientific article published in 1986

The cystic fibrosis locus.

scientific article

The gene for familial polyposis coli maps to the long arm of chromosome 5.

scientific article

The genetics of Fraser syndrome and the blebs mouse mutants

scientific article

The impact of focused Gene Ontology curation of specific mammalian systems

scientific article

The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers

scientific article published on January 1984

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

scientific article published on 28 May 2009

The representation of heart development in the gene ontology

scientific article published on 17 March 2011

Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells

scientific article published on December 1991

Transposition of the great arteries associated with deletion of chromosome 22q11

scientific article published on 01 January 1995

Two RFLPs for human alpha-2 macroglobulin (A2M).

scientific article

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

scientific article published on 21 January 2003

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

scientific article published on May 9, 1992

Velo-cardio-facial syndrome: a review of 120 patients.

scientific article

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis

scientific article published in April 2005

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