Bruno Dallapiccola focuses on Genetics, Mutation, Internal medicine, Endocrinology and Missense mutation. Gene, Locus, Noonan syndrome, Gene mutation and Phenotype are among the areas of Genetics where the researcher is concentrating his efforts. The concepts of his Noonan syndrome study are interwoven with issues in RASopathy, Cardiofaciocutaneous syndrome, LEOPARD Syndrome, Noonan Syndrome with Multiple Lentigines and PTPN11.
He combines subjects such as Joubert syndrome, Mutant, Molecular biology, Allele and Ciliopathies with his study of Mutation. In his work, RPGRIP1L is strongly intertwined with Nephronophthisis, which is a subfield of Joubert syndrome. His Internal medicine research is multidisciplinary, relying on both Gastroenterology and Cardiology.
Bruno Dallapiccola mainly investigates Genetics, Internal medicine, Gene, Endocrinology and Pathology. Genetics is closely attributed to Molecular biology in his research. The study incorporates disciplines such as Gastroenterology and Cardiology in addition to Internal medicine.
A large part of his Gene studies is devoted to Exon. His Locus research is multidisciplinary, incorporating elements of Genetic linkage and Haplotype. Missense mutation and Gene mutation are the subjects of his Mutation studies.
His primary areas of study are Genetics, Internal medicine, Intellectual disability, Phenotype and Gene. His study in Missense mutation, Mutation, Haploinsufficiency, Exome sequencing and Exome falls under the purview of Genetics. His Molecular biology research extends to the thematically linked field of Missense mutation.
His research is interdisciplinary, bridging the disciplines of Pathology and Mutation. His work carried out in the field of Internal medicine brings together such families of science as Gastroenterology, Endocrinology and Cardiology. His research integrates issues of Craniofacial, Pediatrics, Short stature and Autism spectrum disorder in his study of Intellectual disability.
Bruno Dallapiccola mostly deals with Genetics, Internal medicine, Missense mutation, Mutation and Phenotype. His Genetics study focuses mostly on Gene, Noonan syndrome, Exome, Intellectual disability and Haploinsufficiency. The Internal medicine study combines topics in areas such as Gastroenterology, Endocrinology and Cardiology.
Bruno Dallapiccola has included themes like Proband, Dermatology, Neurofibromatosis, Molecular biology and Truncus arteriosus in his Missense mutation study. His Mutation study combines topics from a wide range of disciplines, such as Mutant, Short stature, Hennekam syndrome, Genetic heterogeneity and Craniofacial. His biological study spans a wide range of topics, including Smoothened, Atrial septal defects, Intraflagellar transport, RNA splicing and Exon.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Eriza Maria Valente;Patrick M. Abou-Sleiman;Viviana Caputo;Miratul M K Muqit.
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi.
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan;J A Goodship;D I Wilson;N Philip.
Journal of Medical Genetics (1997)
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta.
Nature Genetics (2007)
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Marco Tartaglia;Len A Pennacchio;Len A Pennacchio;Chen Zhao;Kamlesh K Yadav.
Nature Genetics (2007)
PINK1 mutations are associated with sporadic early-onset parkinsonism.
Enza Maria Valente;Sergio Salvi;Tamara Ialongo;Roberta Marongiu.
Annals of Neurology (2004)
Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
Giuseppe Novelli;Antoine Muchir;Federica Sangiuolo;Anne Helbling-Leclerc.
American Journal of Human Genetics (2002)
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
Laura Silvestri;Viviana Caputo;Emanuele Bellacchio;Luigia Atorino.
Human Molecular Genetics (2005)
Common variants at five new loci associated with early-onset inflammatory bowel disease.
Marcin Imielinski;Robert N. Baldassano;Anne Griffiths;Richard K. Russell.
Nature Genetics (2009)
Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano.
Nature Genetics (2006)
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