P
Peter J. Scambler
Researcher at UCL Institute of Child Health
Publications - 291
Citations - 30613
Peter J. Scambler is an academic researcher from UCL Institute of Child Health. The author has contributed to research in topics: DiGeorge syndrome & Gene. The author has an hindex of 84, co-authored 287 publications receiving 28877 citations. Previous affiliations of Peter J. Scambler include Imperial College London & University College London.
Papers
More filters
Journal ArticleDOI
22q11.2 deletion syndrome
Donna M. McDonald-McGinn,Kathleen E. Sullivan,Bruno Marino,Nicole Philip,Ann Swillen,Jacob A. S. Vorstman,Elaine H. Zackai,Beverly S. Emanuel,Joris Vermeesch,Bernice E. Morrow,Peter J. Scambler,Anne S. Bassett +11 more
TL;DR: The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease as mentioned in this paper.
Journal ArticleDOI
Localization of the gene for familial adenomatous polyposis on chromosome 5.
Walter F. Bodmer,C.J. Bailey,Julia G. Bodmer,H J Bussey,A Ellis,Patricia Gorman,F. C. Lucibello,V. A. Murday,S.H. Rider,Peter J. Scambler +9 more
TL;DR: It is shown that the FAP gene is on chromosome 5, most probably near bands 5q21–q22, and that the same gene may be involved in both familial and non-familial cases of a given tumour.
Journal ArticleDOI
Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions
Aaron D Goldberg,Laura A. Banaszynski,Kyung-Min Noh,Peter W. Lewis,Simon J. Elsaesser,Sonja C. Stadler,Scott Dewell,Martin J. Law,Xingyi Guo,Xuan Li,Duancheng Wen,Duancheng Wen,Ariane Chapgier,Russell Dekelver,Jeffrey C. Miller,Ya Li Lee,Elizabeth A. Boydston,Michael C. Holmes,Philip D. Gregory,John M. Greally,Shahin Rafii,Shahin Rafii,Chingwen Yang,Peter J. Scambler,David Garrick,Richard J. Gibbons,Douglas R. Higgs,Ileana M. Cristea,Fyodor D. Urnov,Deyou Zheng,C. David Allis +30 more
TL;DR: It is demonstrated that multiple and distinct factors are responsible for H3.3 localization at specific genomic locations in mammalian cells.
Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
Hyperdynamic Plasticity of Chromatin Proteins in Pluripotent Embryonic Stem Cells
Eran Meshorer,Dhananjay Yellajoshula,Eric M. George,Peter J. Scambler,David T. Brown,Tom Misteli +5 more
TL;DR: It is suggested that hyperdynamic binding of structural chromatin proteins is a functionally important hallmark of pluripotent ES cells that contributes to the maintenance of plasticity in undifferentiated ES cells and to establishing higher-order chromatin structure.