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Bruno Dallapiccola
Researcher at Boston Children's Hospital
Publications - 935
Citations - 47073
Bruno Dallapiccola is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Gene & Noonan syndrome. The author has an hindex of 94, co-authored 935 publications receiving 43208 citations. Previous affiliations of Bruno Dallapiccola include The Catholic University of America & University of Urbino.
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Journal ArticleDOI
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Eriza Maria Valente,Patrick M. Abou-Sleiman,Viviana Caputo,Miratul M. K. Muqit,Kirsten Harvey,Suzana Gispert,Zeeshan Ali,Domenico Del Turco,Anna Rita Bentivoglio,Daniel G. Healy,Alberto Albanese,Robert L. Nussbaum,Rafael González-Maldonado,Thomas Deller,S Salvi,Pietro Cortelli,William P. Gilks,David S. Latchman,Roberk J. Harvey,Bruno Dallapiccola,Georg Auburger,Nicholas W. Wood +21 more
TL;DR: The identification of two homozygous mutations affecting the PINK1 kinase domain in three consanguineous PARK6 families provide a direct molecular link between mitochondria and the pathogenesis of PD.
Journal ArticleDOI
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Yaoqin Gong,R. B. Slee,Naomi Fukai,Georges Rawadi,Sergio Roman-Roman,Anthony M. Reginato,H. W. Wang,Tim Cundy,Francis H. Glorieux,Dorit Lev,M. Zacharin,Konrad Oexle,Jose Marcelino,Wafaa M. Suwairi,Shauna Heeger,G. Sabatakos,Suneel S. Apte,W. N. Adkins,J. Allgrove,M. Arslan-Kirchner,J. A. Batch,Peter Beighton,Graeme C.M. Black,R. G. Boles,L. M. Boon,C. Borrone,Han G. Brunner,G. F. Carle,Bruno Dallapiccola,A. De Paepe,B. Floege,M. L. Halfhide,Barbara Hall,Raoul C.M. Hennekam,Tatsuo Hirose,A. Jans,Harald Jüppner,Chong Ae Kim,K. Keppler-Noreuil,A. Kohlschuetter,Didier Lacombe,M. Lambert,E. Lemyre,T. Letteboer,Leena Peltonen,Rajkumar Ramesar,M. Romanengo,H. Somer,E. Steichen-Gersdorf,Beat Steinmann,Beth A. Sullivan,Andrea Superti-Furga,W. Swoboda,M. J. van den Boogaard,W. Van Hul,Miikka Vikkula,Marcela Votruba,Bernhard Zabel,Teresa Garcia,Roland Baron,Bjorn R. Olsen,Matthew L. Warman +61 more
TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.
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
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Bhaswati Pandit,Anna Sarkozy,Len A. Pennacchio,Claudio Carta,Kimihiko Oishi,Simone Martinelli,Edgar A. Pogna,Wendy Schackwitz,Anna Ustaszewska,Andrew P. Landstrom,J. Martijn Bos,Steve R. Ommen,Giorgia Esposito,Francesca Romana Lepri,Christian Faul,Peter Mundel,Juan Pedro López Siguero,Romano Tenconi,Angelo Selicorni,Cesare Rossi,Laura Mazzanti,Isabella Torrente,Bruno Marino,Maria Cristina Digilio,Giuseppe Zampino,Michael J. Ackerman,Bruno Dallapiccola,Marco Tartaglia,Marco Tartaglia,Bruce D. Gelb +29 more
TL;DR: Ectopically expressed RAF1 mutants from the two HCM hotspots had increased kinase activity and enhanced ERK activation, whereas non–HCM-associated mutants were kinase impaired, which implicate increased RAS signaling in pathological cardiomyocyte hypertrophy.
Journal ArticleDOI
Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
Giuseppe Novelli,Antoine Muchir,Federica Sangiuolo,Anne Helbling-Leclerc,Maria Rosaria D'Apice,Catherine Massart,Francesca Capon,Paolo Sbraccia,Massimo Federici,Renato Lauro,Cosimo Tudisco,Rosanna Pallotta,Gioacchino Scarano,Bruno Dallapiccola,Luciano Merlini,Gisèle Bonne +15 more
TL;DR: Pat skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation, which was shared by all affected patients.