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Giovanni Battista Ferrero
Giovanni Battista Ferrero
Associate Professor, Department of Clinical nd Biological Sciences, University of Torino
Dirección de correo verificada de unito.it
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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
17012020
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7192021
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nat Rev Endocrinol 14 (4), 229-249, 2018
469*2018
X-linked situs abnormalities result from mutations in ZIC3
M Gebbia, GB Ferrero, G Pilia, MT Bassi, AS Aylsworth, M Penman-Splitt, ...
Nature genetics 17 (3), 305-308, 1997
4591997
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
V Cordeddu, E Di Schiavi, LA Pennacchio, A Ma'ayan, A Sarkozy, ...
Nature genetics 41 (9), 1022-1026, 2009
4492009
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives, TH Vu, N Shafer, ...
PLoS genetics 7 (11), e1002334, 2011
3612011
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ...
Journal of medical genetics 44 (12), 750-762, 2007
3422007
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
A Sparago, F Cerrato, M Vernucci, GB Ferrero, MC Silengo, A Riccio
Nature genetics 36 (9), 958-960, 2004
3422004
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ...
Human mutation 30 (4), 695-702, 2009
3392009
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
S Martinelli, A De Luca, E Stellacci, C Rossi, S Checquolo, F Lepri, ...
The American Journal of Human Genetics 87 (2), 250-257, 2010
2742010
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome
A Mussa, S Russo, A De Crescenzo, A Freschi, L Calzari, S Maitz, ...
European journal of human genetics 24 (2), 183-190, 2016
191*2016
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ...
Nature genetics 54 (9), 1320-1331, 2022
1902022
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1862019
Heart rate variability in childhood obesity
G Martini, P Riva, F Rabbia, V Molini, GB Ferrero, F Cerutti, R Carra, ...
Clinical Autonomic Research 11, 87-91, 2001
1752001
Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol
A Mussa, C Molinatto, G Baldassarre, E Riberi, S Russo, L Larizza, ...
The Journal of pediatrics 176, 142-149. e1, 2016
1562016
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell …
N Chiesa, A De Crescenzo, K Mishra, L Perone, M Carella, O Palumbo, ...
Human molecular genetics 21 (1), 10-25, 2012
1432012
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour
A Sparago, S Russo, F Cerrato, S Ferraiuolo, P Castorina, A Selicorni, ...
Human molecular genetics 16 (3), 254-264, 2007
1412007
Prevalence of Beckwith–Wiedemann syndrome in north west of Italy
A Mussa, S Russo, A De Crescenzo, N Chiesa, C Molinatto, A Selicorni, ...
American journal of medical genetics Part A 161 (10), 2481-2486, 2013
1402013
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations
F Lepri, A De Luca, L Stella, C Rossi, G Baldassarre, F Pantaleoni, ...
Human mutation 32 (7), 760-772, 2011
1382011
A gene from the Xp22. 3 region shares homology with voltage-gated chloride channels
MA Slegtenhorst, M T. Bassl, G Borsanil, MC Wapenaar, GB Ferrero, ...
Human molecular genetics 3 (4), 547-552, 1994
1271994
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20