About: Scambler P.J.

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Attributs	Valeurs
type	Person
name	Scambler P.J. Scambler Peter J. Scambler Peter Scambler P. J.
personal mailbox	p.scambler@ich.ucl.ac.uk
familyName	Scambler SCAMBLER
Given name	P P. P. J. Peter Peter J. P.J. P J Peter J PETER J
is relates of	http://hub.abes.fr/bmj/periodical/gutjnl/2003/volume_52/issue_10/B356B02522EF3CE9E053120B220A6533/authorship/6 http://hub.abes.fr/bmj/periodical/jmedgenet/1993/volume_30/issue_10/B35966E220726AB5E053120B220AFD24/authorship/9 http://hub.abes.fr/bmj/periodical/jmedgenet/1997/volume_34/issue_10/B35966E225D16AB5E053120B220AFD24/authorship/25 http://hub.abes.fr/bmj/periodical/jmg/2013/volume_50/issue_5/B35958AFB1536AAFE053120B220A26C8/authorship/30 http://hub.abes.fr/bmj/periodical/jmedgenet/1993/volume_30/issue_10/B35966E220736AB5E053120B220AFD24/authorship/7 http://hub.abes.fr/bmj/periodical/jmedgenet/1995/volume_32/issue_9/B35966E2245F6AB5E053120B220AFD24/authorship/3 http://hub.abes.fr/bmj/periodical/jmg/2012/volume_49/issue_5/B35958AFB0726AAFE053120B220A26C8/authorship/12 http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_12/B3598D6B5BFB7CBEE053120B220A90C5/authorship/5 http://hub.abes.fr/oup/periodical/nar/1985/volume_13/issue_18/101093nar13186787/authorship/1 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is Author of	Molecular cloning and localization to chromosome 6 of mouseINT1L1 gene Analysis of the transgenome of MET transfectant cell lines reveals that MET activation is accompanied by an interstitial insertion Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization Genetic homogeneity of cystic fibrosis Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic flbrosis Cloning and Developmental Expression Analysis of Chick Hira (Chira), a Candidate Gene for DiGeorge Syndrome Isolation of a polymorphic DNA sequence (λ 86B, D8S3) from chromosome eight 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 Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase Frasier Syndrome is Caused by Defective Alternative Splicing of WT1 Leading to an Altered Ratio of WT1 +/−KTS Splice Isoforms Two RFLPs for human α-2 macroglobulin (A2M) The genetics of Fraser syndrome and the blebs mouse mutants Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli Isolation of a polymorphic DNA sequence (λ 82B, D8S2) from chromosome eight A RFLP for A56 (D5S) an anonymous DNA sequence from chromosome 5 Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11 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 The 22q11 deletion syndromes Deletion of 150 kb in the Minimal Digeorge/Velocardiofacial Syndrome Critical Region in Mouse Common arterial trunk associated with a homeodomain mutation of NKX2.6 RELF for D4S12, an anonymous single copy genomic clone at 4pter-4q29 [HGM8 provisional no. D4S12] The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers Genomic organization of TUPLEl/HIRA: a gene implicated in DiGeorge syndrome Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11 The Nfe2l1 gene maps to distal mouse Chromosome 11 Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19 Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis Identification of twelve new RFLP-markers on chromosome 22q11-qter

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