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C. Castronovo · SciRah

Researcher profile · Semantic Scholar

C. Castronovo

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C. Castronovo — researcher profile on SciRah

h-index: 10
Works: 24
Citations: 395

Most-cited papers

The natural history of Cri du Chat Syndrome. A report from the Italian Register.
P. Mainardi, G. Pastore, C. Castronovo, M. Godi +5 more
2006European Journal of Medical Genetics90 citations
Semantic Scholar
Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis.
L. Persani, M. Bonomi, A. Lleo, S. Pasini +9 more
2012Journal of Autoimmunity87 citations
Semantic Scholar
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome
C. Castronovo, R. Rossetti, Daniela Rusconi, Maria Paola Recalcati +7 more
2013Human Reproduction51 citations Open access
Semantic Scholar
High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function
I. Bestetti, C. Castronovo, A. Sironi, C. Caslini +9 more
2019Human Reproduction44 citations Open access
Semantic Scholar
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
M. Crippa, Daniela Rusconi, C. Castronovo, I. Bestetti +5 more
2015Molecular Cytogenetics24 citations Open access
Semantic Scholar
Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature
C. Castronovo, M. Crippa, I. Bestetti, Daniela Rusconi +5 more
2015American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
M. T. Bonati, C. Castronovo, A. Sironi, Dario Zimbalatti +9 more
2019Neurogenetics17 citations
Semantic Scholar
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
M. T. Bonati, F. Verde, U. Hladnik, Paola Cattelan +8 more
2017Molecular Genetics and Metabolism Reports13 citations Open access
Semantic Scholar
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
C. Castronovo, E. Valtorta, M. Crippa, S. Tedoldi +12 more
2013Molecular Cytogenetics12 citations Open access
Semantic Scholar
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
M. Crippa, I. Bestetti, Mario Perotti, C. Castronovo +6 more
2014BMC Medical Genetics11 citations Open access
Semantic Scholar
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype
C. Castronovo, Daniela Rusconi, M. Crippa, D. Giardino +6 more
2013American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
V. Cirello, Valentina Giorgini, C. Castronovo, S. Marelli +10 more
2018Frontiers in Genetics7 citations Open access
Semantic Scholar
3 microduplications lead to Neurodevelopmental Disorders through EHMT 1 overexpression
M. T. Bonati, C. Castronovo, A. Sironi, Dario Zimbalatti +10 more
20193 citations
Semantic Scholar
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
I. Bestetti, A. Sironi, Ilaria Catusi, M. Mariani +6 more
2018Molecular Cytogenetics3 citations Open access
Semantic Scholar
[The Cri du Chat syndrome: a study on the quality of care].
P. Mainardi, M. Spunton, V. Arcuri, G. Pastore +5 more
2012Minerva Pediatrica3 citations
Semantic Scholar
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
C. Castronovo, E. Valtorta, M. Crippa, S. Tedoldi +12 more
2013Molecular Cytogenetics1 citations Open access
Semantic Scholar
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
M. Crippa, Daniela Rusconi, C. Castronovo, I. Bestetti +5 more
2015Molecular Cytogenetics0 citations Open access
Semantic Scholar
Identification of rare CNVs involving genes acting in oocyte maturation and differentiation in a cohort of patients affected by Primary Ovarian Insufficiency
I. Bestetti, C. Castronovo, M. Crippa, R. Rossetti +7 more
20140 citations
Semantic Scholar
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests
M. Crippa, Chiara Picinelli, S. Galletti, A. Sironi +10 more
20140 citations
Semantic Scholar
BMP15 gene dosage as a relevant X-linked determinant of ovarian development and function
R. Rossetti, Irene Negri, C. Castronovo, P. Finelli +1 more
20140 citations
Semantic Scholar
Possible position effect on TRPS1 in a patient carrying t(2;8)(p16.1;q23.3) translocation with phenotype referring to trichorhinopahalangeal syndrome
M. Crippa, Mario Perotti, S. Tabano, C. Castronovo +4 more
20110 citations
Semantic Scholar
Genetic and molecular cytogenetic investigations in Turner syndrome patients with spontaneous pubertal development
R. Rossetti, C. Castronovo, C. Cacciatore, Daniela Rusconi +4 more
20110 citations
Semantic Scholar
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region
P. Finelli, M. Crippa, E. Valtorta, C. Castronovo +9 more
20110 citations
Semantic Scholar
NSD1 intragenic deletion in a patient with Sotos/5q subtelomeric deletion syndrome combined phenotype without 5q35.3 deletion
C. Castronovo, Daniela Rusconi, C. Gervasini, D. Milani +4 more
20090 citations
Semantic Scholar

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