Maria Lisa Dentici (Maria L Dentici, M L Dentici, Marialisa Dentici)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 37

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Diagnostics (Basel, Switzerland)

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A 194 (7) (2024)
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A 194 (7) (2024)
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A 194 (7) (2024)
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions. American journal of medical genetics. Part A (2024)
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria Lisa Dentici, Tartaglia Marco, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F Lauridsen, Oliver Murch, Rachel Irving, Sally A Lynch, Sarju G Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M Johannesen, Ian T Westphall, Susan S Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S Møller, Guido Rubboli, Allan Bayat
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clinical genetics (2023)
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Maria Lisa Dentici, Giuseppe Merla, Emanuele Agolini, Alessia Micalizzi, Cecilia Mancini, Marcello Niceta, Marina Macchiaiolo, Daria Diodato, Roberta Onesimo, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Valentina Trevisan, Mariella Iademarco, Giuseppe Zampino, Tartaglia Marco, Antonio Novelli, Andrea Bartuli, Maria Christina Digilio, Giulio Calcagni
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. Clinical genetics (2023)
Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Tartaglia Marco, Giuseppe Zampino
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome. Genes 14 (10) (2023)
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T Carter, Maria Lisa Dentici, Koenraad Devriendt, Melissa Bellini, Maria Cristina Digilio, Asif Doja, David A Dyment, Stense Farholt, Carlos R Ferreira, Lynne A Wolfe, William A Gahl, Maria Gnazzo, Himanshu Goel, Sabine Weller Grønborg, Trine Hammer, Lorenzo Iughetti, Tjitske Kleefstra, David A Koolen, Francesca Romana Lepri, Gabrielle Lemire, Pedro Louro, Gary McCullagh, Simona F Madeo, Annarita Milone, Roberta Milone, Jens Erik Klint Nielsen, Antonio Novelli, Charlotte W Ockeloen, Rosario Pascarella, Tommaso Pippucci, Ivana Ricca, Stephen P Robertson, Sarah Sawyer, Marie Falkenberg Smeland, Sander Stegmann, Constanze T Stumpel, Amy Goel, Juliet M Taylor, Domenico Barbuti, Annarosa Soresina, Maria Francesca Bedeschi, Roberta Battini, Anna Cavalli, Carlo Fusco, Maria Iascone, Lionel Van Maldergem, Sunita Venkateswaran, Orsetta Zuffardi, Samantha Vergano, Livia Garavelli, Allan Bayat
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. Journal of medical genetics (2023)
Maria Bejerholm Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P Bhatia, Tatjana Bierhals, Christian Malte Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco-Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B Haack, Trine B Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J Müller, Anna J Oostra, Beth A Pletcher, David Ros-Pardo, Shanika R Samarasekera, Tartaglia Marco, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha Saad Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gómez-Puertas, Rikke Steensjerre Moller, Zeynep Tümer
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical genetics 102 (2) (2022)
Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy. International journal of molecular sciences 23 (21) (2022)
Davide Vecchio, Dario Cocciadiferro, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Emanuele Agolini, Marta Matraxia, Alessia Carboni, Antonella Coretti, Andrea Villani, Filippo Maria Panfili, Maria Lisa Dentici, Paola Sabrina Buonuomo, Ippolita Rana, Giovanna Stefania Colafati, Maria Christina Digilio, Antonio Novelli, Andrea Bartuli
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up. Clinical genetics 102 (2) (2022)
Amy Hardcastle, Aliska M Berry, Ian M Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E Gerard, Jill A Rosenfeld, Saumya D Sisoudiya, Andres Hernandez-Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria Lisa Dentici, Rossella Capolino, Maria C Digilio, Ludovico Graziani, Cecilie F Rustad, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J McMullan, John Dean, Maria G Giuffrida, Laura Bernardini, Vinod Varghese, Nora L Shannon, Rachel E Harrison, Wayne W K Lam, Shane McKee, Peter D Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A Shaw, Wendy K Chung, Daryl A Scott
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. American journal of medical genetics. Part A 188 (10) (2022)
Maria Christina Digilio, Giulio Calcagni, Maria Gnazzo, Paolo Versacci, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Anwar Baban, Carolina Putotto, Paolo Alfieri, Marta Unolt, Francesca Romana Lepri, Viola Alesi, Silvia Genovesea, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
Congenital heart defects in molecularly confirmed KBG syndrome patients. American journal of medical genetics. Part A 188 (4) (2021)
Filomena Pirozzi, Benson Lee, Nicole Horsley, Deepika D'Cunha Burkardt, William B Dobyns, John M Graham, Maria Lisa Dentici, Claudia Cesario, Jens Schallner, Joseph Porrmann, Nataliya Di Donato, Pedro A Sanchez-Lara, Ghayda M Mirzaa
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. American journal of medical genetics. Part A 185 (9) (2021)
Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, Maya El Hachem
Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review. Genes 12 (5) (2021)
Bradley S Bowles, Alejandro Ferrer, Carla J Nishimura, Filippo Pinto E Vairo, Tristan Rey, Bruno Leheup, Jennifer A Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovesea, Chelsea Roadhouse, Kirsty McWalter, null null, Ingrid M Wentzensen, Chumei Li, Dusica Babovic-Vuksanovic, Brendan C Lanpher, Maria Lisa Dentici, Arunkanth Ankala, J Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Benedicte Gérard, Agnes Bloch-Zupan, Richard J Smith, Eric W Klee
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. American journal of medical genetics. Part A 185 (8) (2021)
Paolo Alfieri, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, Maria Gnazzo, Francesco Demaria, Virginia Pironi, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Stefano Vicari
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study. Journal of clinical medicine 10 (7) (2021)
Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. International journal of molecular sciences 22 (2) (2021)
Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, Barbara Robens, Andrea Guerin, Sébastien Lebon, Annapurna Poduri, Lorena Travaglini, Federica Graziola, Alexandra Afenjar, Boris Keren, Valerio Licursi, Alessandro Capuano, Bruno Dallapiccola, Andrea Superti-Furga, Antonio Novelli
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Journal of medical genetics (2021)
Maria Lisa Dentici, Vittorio Maglione, Emanuele Agolini, Gino Catena, Rossella Capolino, Valentina Lanari, Antonio Novelli, Lorenzo Sinibaldi, Davide Vecchio, Michaela V Gonfiantini, Marina Macchiaiolo, Maria C Digilio, Bruno Dallapiccola, Andrea Bartuli
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations. American journal of medical genetics. Part A 182 (8) (2020)
Sara Loddo, Viola Alesi, Francesca Clementina Radio, Silvia Genovesea, Silvia Di Tommaso, Giusy Calvieri, Valeria Orlando, Enrico Bertini, Maria Lisa Dentici, Antonio Novelli, Bruno Dallapiccola
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. American journal of medical genetics. Part A 182 (12) (2020)
Maria Camilla Rossi-Espagnet, Maria Lisa Dentici, Luca Pasquini, Chiara Carducci, Martina Lucignani, Daniela Longo, Emanuele Agolini, Antonio Novelli, Michaela V Gonfiantini, Maria C Digilio, Antonio Napolitano, Andrea Bartuli
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl. American journal of medical genetics. Part A 182 (10) (2020)
Viola Alesi, Sara Loddo, Valeria Orlando, Silvia Genovesea, Silvia Di Tommaso, Maria Teresa Liambo, Daniele Pompili, Daniele Ferretti, Chiara Calacci, Giorgia Catino, Roberto Falasca, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Bruno Dallapiccola
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile. American journal of medical genetics. Part A 185 (1) (2020)
Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, Rossella Capolino, Elisa Pisaneschi, Emanuele Agolini, Martina Rinelli, Viola Alesi, Paolo Versacci, Silvia Genovesea, Claudia Cesario, Lorenzo Sinibaldi, Anwar Baban, Andrea Bartuli, Bruno Marino, Marco Cappa, Bruno Dallapiccola, Antonio Novelli, Maria Christina Digilio
KBG syndrome: Common and uncommon clinical features based on 31 new patients. American journal of medical genetics. Part A 182 (5) (2020)
Line Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, Farah Kanani, Michael Parker, Andrew E Fry, Sara Loddo, Antonio Novelli, Maria Lisa Dentici, Shelagh Joss, Joan P Jørgensen, Christina R Fagerberg
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Clinical genetics 97 (6) (2020)
Alessandro Ferretti, Sabina Barresi, Marina Trivisano, Andrea Ciolfi, Maria Lisa Dentici, Francesca Clementina Radio, Federico Vigevano, Marco Tartaglia, Nicola Specchio
POGZ-related epilepsy: Case report and review of the literature. American journal of medical genetics. Part A 179 (8) (2019)
Maria Christina Digilio, Monia Magliozzi, Alessandra Di Pede, Laura Valfrè, Maria Lisa Dentici, Cinzia Auriti, Bruno Marino, Antonio Novelli, Bruno Dallapiccola
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. American journal of medical genetics. Part A 179 (8) (2019)
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Andrea Ciolfi, Marina Trivisano, Andrea Bartuli, Maria Christina Digilio, Nicola Specchio, Bruno Dallapiccola, Marco Tartaglia
Expanding the clinical spectrum associated with PACS2 mutations. Clinical genetics 95 (4) (2019)
Maria Lisa Dentici, A Terracciano, E Bellacchio, R Capolino, A Novelli, Maria Christina Digilio, B Dallapiccola
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene. Clinical genetics 93 (6) (2018)
M Niceta, K Margiotti, M C Digilio, V Guida, A Bruselles, S Pizzi, A Ferraris, L Memo, N Laforgia, Maria Lisa Dentici, F Consoli, I Torrente, V L Ruiz-Perez, B Dallapiccola, B Marino, A De Luca, Tartaglia Marco
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Clinical genetics 93 (3) (2018)
Maria Christina Digilio, F Pugnaloni, A De Luca, G Calcagni, Anwar Baban, Maria Lisa Dentici, P Versacci, B Dallapiccola, M Tartaglia, B Marino
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog. Clinical genetics 95 (2) (2018)
Maria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, Sabina Barresi, Paola Bencivenga, Bruno Dallapiccola, Maria Cristina Digilio, Marco Tartaglia
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. American journal of medical genetics. Part A 173 (7) (2017)
Viola Alesi, Maria Lisa Dentici, Fabrizia Restaldi, Valeria Orlando, Maria T Liambo, Chiara Calacci, Rossella Capolino, Maria C Digilio, May El Hachem, Antonio Novelli, Andrea Diociaiuti, Bruno Dallapiccola
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome. American journal of medical genetics. Part A 173 (7) (2017)
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Francesca Pantaleoni, Simone Pizzi, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. Clinical genetics 93 (2) (2017)

Maria Lisa Dentici.css-eqlu8i{font-size:small;padding-left:4px;} (Maria L Dentici, M L Dentici, Marialisa Dentici)

Publication Activity (10 Years)

Top Topics

Top Venues

Maria Lisa Dentici (Maria L Dentici, M L Dentici, Marialisa Dentici)