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Annalisa Vetro
Annalisa Vetro
Meyer Children’s Hospital, Florence
在 meyer.it 的电子邮件经过验证
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引用次数
引用次数
年份
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome
F Beuschlein, M Fassnacht, G Assié, D Calebiro, CA Stratakis, A Osswald, ...
New England Journal of Medicine 370 (11), 1019-1028, 2014
4332014
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
3522007
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
I Andolfo, SL Alper, L De Franceschi, C Auriemma, R Russo, L De Falco, ...
Blood, The Journal of the American Society of Hematology 121 (19), 3925-3935, 2013
3462013
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2702019
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ...
PLoS genetics 7 (7), e1002173, 2011
2222011
Monogenic variants in dystonia: an exome-wide sequencing study
M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ...
The Lancet Neurology 19 (11), 908-918, 2020
1822020
PRKACB and Carney complex
A Forlino, A Vetro, L Garavelli, R Ciccone, E London, CA Stratakis, ...
New England Journal of Medicine 370 (11), 1065-1067, 2014
1592014
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, ...
Clinical genetics 81 (6), 542-554, 2012
1312012
XX males SRY negative: a confirmed cause of infertility
A Vetro, R Ciccone, R Giorda, MG Patricelli, E Della Mina, A Forlino, ...
Journal of medical genetics 48 (10), 710-712, 2011
1172011
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
A Vetro, MR Dehghani, L Kraoua, R Giorda, S Beri, L Cardarelli, M Merico, ...
European Journal of Human Genetics 23 (8), 1025-1032, 2015
902015
A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
E Rossi, AP Verri, MG Patricelli, V Destefani, I Ricca, A Vetro, R Ciccone, ...
European Journal of Medical Genetics 51 (6), 631-638, 2008
902008
The introduction of arrays in prenatal diagnosis: a special challenge
A Vetro, K Bouman, R Hastings, DJ McMullan, JR Vermeesch, K Miller, ...
Human mutation 33 (6), 923-929, 2012
872012
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome
A Vetro, S Savasta, A Russo Raucci, C Cerqua, G Sartori, I Limongelli, ...
European Journal of Human Genetics 25 (5), 646-650, 2017
802017
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era?
TH Bui, A Vetro, O Zuffardi, LG Shaffer
Prenatal Diagnosis 31 (3), 235-243, 2011
802011
The phenotype of recurrent 10q22q23 deletions and duplications
BWM Van Bon, J Balciuniene, G Fruhman, SCS Nagamani, DL Broome, ...
European journal of human genetics 19 (4), 400-408, 2011
792011
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
ED Mina, R Ciccone, F Brustia, B Bayindir, I Limongelli, A Vetro, ...
European Journal of Human Genetics 23 (3), 354-362, 2015
752015
Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing
P Salpea, A Horvath, E London, FR Faucz, A Vetro, I Levy, E Gourgari, ...
The Journal of Clinical Endocrinology & Metabolism 99 (1), E183-E188, 2014
702014
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
E Errichiello, N Mustafa, A Vetro, LD Notarangelo, H de Jonge, B Rinaldi, ...
The Journal of pathology 243 (1), 9-15, 2017
642017
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
632020
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
A Vetro, HN Nielsen, R Holm, RF Hevner, E Parrini, Z Powis, RS Møller, ...
Brain 144 (5), 1435-1450, 2021
612021
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