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Maria Grazia Patricelli

Observed names: M. Patricelli, M.G. Patricelli, Maria G Patricelli, Maria G. Patricelli, Patricelli, Maria
ORCID: 0000-0002-7664-5732
Observed ORCID: 0000-0002-7664-5732
OpenAlex ID: A5016470633
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
2011 · Maria Clara Bonaglia, Roberto Giorda, et al. · PLoS Genetics · 225
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13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
2007 · Lucia Ballarati, Elena Rossi, et al. · Journal of Medical Genetics · 146
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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of K abuki Syndrome Patients
2014 · Lucia Micale, Bartolomeo Augello, et al. · Human Mutation · 101
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Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
2011 · Lucia Micale, Bartolomeo Augello, et al. · Orphanet Journal of Rare Diseases · 99
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XX males SRY negative: a confirmed cause of infertility: Figure 1
2011 · Annalisa Vetro, Roberto Ciccone, et al. · Journal of Medical Genetics · 95
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A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
2008 · Elena Rossi, Anna Pia Verri, et al. · European Journal of Medical Genetics · 72
Pregnancy After Breast Cancer in Young BRCA Carriers
2023 · Matteo Lambertini, Eva Blondeaux, et al. · JAMA · 64
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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
2011 · Elena Andreucci, Salim Aftimos, et al. · Orphanet Journal of Rare Diseases · 62
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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
2019 · Angela Sparago, Ankit Verma, et al. · Clinical Epigenetics · 46
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Risk factors and clinical characteristics of early-onset colorectal cancer vs. late-onset colorectal cancer: a case-case study
2020 · Milena Di Leo, Raffaella A. Zuppardo, et al. · European Journal of Gastroenterology & Hepatology · 40
Inverted duplications: how many of them are mosaic?
2004 · Tiziano Pramparo, Sabrina Giglio, et al. · European Journal of Human Genetics · 33
PRPH2-Associated Retinopathy
2022 · Lorenzo Bianco, Alessandro Arrigo, et al. · Ophthalmology Retina · 27
Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program
2020 · Silvana Caiulo, Carlo Corbetta, et al. · The Journal of Clinical Endocrinology & Metabolism · 27
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Reduction in catheter‐related infections after switching from povidone‐iodine to chlorhexidine for the exit‐site care of tunneled central venous catheters in children on hemodialysis
2014 · Fabio Paglialonga, Silvia Consolo, et al. · Hemodialysis International · 25
Oral and Fecal Microbiota in Lynch Syndrome
2020 · Roberto Ferrarese, Raffaella Alessia Zuppardo, et al. · Journal of Clinical Medicine · 15
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A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling
2019 · Fabiola Valenza, Davide Cittaro, et al. · PLoS ONE · 14
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8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
2005 · Elena Rossi, Manuela de Gregori, et al. · American Journal of Medical Genetics Part A · 10
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
2005 · Manuela De Gregori, Tiziano Pramparo, et al. · Human Genetics · 8
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease
2021 · Amelia Caretto, Edoardo Errichiello, et al. · Medicine · 6
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s
2012 · Elena Rossi, Roberto Giorda, et al. · PLoS ONE · 6
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Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation
2023 · Gaia Vincenzi, Ilenia Teresa Petralia, et al. · Frontiers in Endocrinology · 5
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Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant
2022 · Lorenzo Bianco, Alessandro Arrigo, et al. · American Journal of Ophthalmology Case Reports · 5
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MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer
2019 · Alessandro Mannucci, Raffaella A. Zuppardo, et al. · European Journal of Gastroenterology & Hepatology · 4
Distinct genomic, microenvironmental, and nephron signatures in VHL kidney cysts and tumors
2026 · Isaline Rowe, Francesca Corea, et al. · Scientific Reports · 3
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Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders
2023 · Alberto A. Zambon, Daniele Ghezzi, et al. · Annals of Clinical and Translational Neurology · 3
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Works count: 51
Citation count: 1,146
H-index: 15
I10-index: 17
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