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Paola Malatesta · SciRah

Researcher profile · Semantic Scholar

Paola Malatesta

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Paola Malatesta — researcher profile on SciRah

h-index: 7
Works: 17
Citations: 554

Most-cited papers

MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
M. Seri, A. Pecci, F. di Bari, R. Cusano +21 more
2003Medicine334 citations Open access
Semantic Scholar
Deletion polymorphism of angiotensin-converting enzyme gene and left ventricular hypertrophy in southern Italian patients.
F. Perticone, R. Ceravolo, C. Cosco, Maria Trapasso +5 more
1997Journal of the American College of Cardiology62 citations Open access
Semantic Scholar
Sgk1 enhances RANBP1 transcript levels and decreases taxol sensitivity in RKO colon carcinoma cells
Rosario Amato, D. Scumaci, L. D'Antona, Rodolfo Iuliano +14 more
2013Oncogene57 citations
Semantic Scholar
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss
V. Piazza, M. Beltramello, Miranda Menniti, E. Colao +8 more
2005Clinical Genetics41 citations
Semantic Scholar
Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene.
S. Scalise, Luana Scaramuzzino, V. Lucchino, C. Esposito +5 more
2020Stem Cell Research16 citations Open access
Semantic Scholar
A familial t(4;8) translocation segregates with epilepsy and migraine with aura
M. Crippa, Paola Malatesta, M. T. Bonati, F. Trapasso +7 more
2020Annals of Clinical and Translational Neurology10 citations Open access
Semantic Scholar
Non-Invasive Prenatal Test Analysis Opens a Pandora’s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome
C. Politi, K. Grillone, D. Nocera, E. Colao +7 more
2024Genes7 citations Open access
Semantic Scholar
Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease.
V. Lucchino, Luana Scaramuzzino, S. Scalise, K. Grillone +8 more
2021Stem Cell Research6 citations Open access
Semantic Scholar
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype
A. Primerano, E. Colao, C. Villella, M. Nocera +8 more
2015Molecular Cytogenetics6 citations Open access
Semantic Scholar
Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic β-cell dysfunction
D. Nocera, Miranda Menniti, Stefania Belviso, H. Bond +8 more
2019Acta Diabetologica5 citations
Semantic Scholar
A Case of Premature Ovarian Failure in a 33-Year-Old Woman
E. Colao, T. Granata, M. Vismara, Francesco Bombardiere +4 more
2013Case Reports in Genetics5 citations Open access
Semantic Scholar
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
Stefania Nucara, E. Colao, G. Mangone, F. Baudi +9 more
2011Dermatology Online Journal3 citations
Semantic Scholar
De La Chapelle Syndrome: Clinical and Physical Performance Implications
Paola Chiarello, Giuseppe Seminara, S. Bossio, Luciana Sicilia +4 more
2024Sexes2 citations Open access
Semantic Scholar
Cytogenetic and molecular characterization of an atypical ETP-ALL case with BCL2 dependency: therapeutic implications for Venetoclax use
Francesco Gigliotti, Carolina Brescia, Salvatore Audia, M. E. Gallo Cantafio +11 more
2025Molecular Biology Reports0 citations Open access
Semantic Scholar
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy
A. Bilotta, Elisa Lo Feudo, Valentina Rocca, E. Colao +10 more
2025Genes0 citations
Semantic Scholar
Clinical and Molecular Evaluation of a Case of Male Infertility and Azoospermia
E. Colao, Vismara Mfm, F. Bombardiere, F. Fabiani +13 more
20150 citations Open access
Semantic Scholar
Identificazione di una nuova mutazione germinale nel gene APC in una famiglia con poliposi familiare (Familial Adenomatous Polyposis)
G. Passafaro, M. Serino, Graziella Mangone, E. Colao +2 more
20090 citations
Semantic Scholar

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