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Nicole Philip
Researcher at Aix-Marseille University
Publications - 100
Citations - 6682
Nicole Philip is an academic researcher from Aix-Marseille University. The author has contributed to research in topics: DiGeorge syndrome & Population. The author has an hindex of 32, co-authored 98 publications receiving 5831 citations. Previous affiliations of Nicole Philip include Emory University & Royal College of Surgeons in Ireland.
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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
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
Prevalence of 22q11 microdeletion.
TL;DR: The present data were extracted from the Birth Defects Registry of the Bouches-duRh6ne area in southern France, and found that chromosome 22ql 1 deletions were the cause of at least 5% of congenital heart defects.
Journal ArticleDOI
CHARGE syndrome: Report of 47 cases and review
Anne-Lorraine Tellier,Valérie Cormier-Daire,Véronique Abadie,Jeanne Amiel,Sabine Sigaudy,Damien Bonnet,P de Lonlay-Debeney,M.P. Morrisseau-Durand,Philippe Hubert,J.L. Michel,Dominique Jan,H. Dollfus,Clarisse Baumann,Philippe Labrune,Didier Lacombe,Nicole Philip,Martine Lemerrer,M.L. Briard,Arnold Munnich,Stanislas Lyonnet +19 more
TL;DR: The combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.
Journal ArticleDOI
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
Lesley M McGregor,Vile Makela,Susan M. Darling,Susan M. Darling,Sofia Vrontou,Georges Chalepakis,Catherine Roberts,Nicola Smart,Paul Rutland,Natalie J. Prescott,Jason Hopkins,Elizabeth Bentley,Alison Shaw,Emma Roberts,Robert F. Mueller,Shalini Jadeja,Nicole Philip,John Nelson,Christine Francannet,Antonio Perez-Aytes,André Mégarbané,Bronwyn Kerr,Brandon J. Wainwright,Adrian S. Woolf,Robin M. Winter,Peter J. Scambler +25 more
TL;DR: It is shown that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous, and the mouse is a model for Fraser syndrome in humans, a disorder caused by disrupted epithelial integrity in utero.