J
Jacopo Celli
Researcher at Radboud University Nijmegen
Publications - 9
Citations - 2193
Jacopo Celli is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Feingold syndrome & Hay–Wells syndrome. The author has an hindex of 7, co-authored 8 publications receiving 2091 citations.
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Journal ArticleDOI
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Jacopo Celli,Pascal H.G. Duijf,Ben C.J. Hamel,Michael J. Bamshad,Bridget Kramer,Arie P. T. Smits,Ruth Newbury-Ecob,Raoul C.M. Hennekam,Griet Van Buggenhout,Arie van Haeringen,C. Geoffrey Woods,Anthonie J. van Essen,Robert M.W. de Waal,Gert Vriend,Daniel A. Haber,Annie Yang,Frank McKeon,Han G. Brunner,Hans van Bokhoven +18 more
TL;DR: Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families that provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome.
Journal ArticleDOI
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé,Sophie Currier,Alice Steinbrecher,Jacopo Celli,Ellen van Beusekom,Bert van der Zwaag,Hülya Kayserili,Luciano Merlini,David Chitayat,William B. Dobyns,Bru Cormand,Ana Elina Lehesjoki,Jesús Cruces,Thomas Voit,Christopher A. Walsh,Hans van Bokhoven,Han G. Brunner +16 more
TL;DR: Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
Journal ArticleDOI
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
Hans van Bokhoven,Ben C.J. Hamel,Michael J. Bamshad,Eugenio Sangiorgi,Fiorella Gurrieri,Pascal H.G. Duijf,Kaate R.J. Vanmolkot,Ellen van Beusekom,Sylvia E. C. van Beersum,Jacopo Celli,Gerard Merkx,Romano Tenconi,Jean Pierre Fryns,Alain Verloes,Ruth Newbury-Ecob,Annick Raas-Rotschild,Frank Majewski,Frits A. Beemer,Andreas R. Janecke,David Chitayat,Giangiorgio Crisponi,Hülya Kayserili,John R.W. Yates,Giovanni Neri,Han G. Brunner +24 more
TL;DR: In this paper, the p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome, in 35 individuals with nonsyndromic split hand-split foot malformation (SHFM), and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
Journal ArticleDOI
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
J.H.L.M. van Bokhoven,Jacopo Celli,Hülya Kayserili,E. van Beusekom,Sevim Balci,W. Brussel,Flemming Skovby,B.A. Kerr,E.F. Percin,Nurten A. Akarsu,Han G. Brunner +10 more
TL;DR: In contrast, Ror2−/− mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS, and several homozygous ROR2 mutations in this cohort of RRS patients are located upstream from those previously found in BDB.
Journal ArticleDOI
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
Hans van Bokhoven,Jacopo Celli,Jeroen van Reeuwijk,Tuula Rinne,Bob Glaudemans,Ellen van Beusekom,Paul N.M.A. Rieu,Ruth Newbury-Ecob,Chin Chiang,Han G. Brunner +9 more
TL;DR: It is shown that heterozygous mutations in the gene MYCN are present in Feingold syndrome, and all mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage.