Sara Loddo

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 19

Top Topics

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

International journal of molecular sciences

Journal of cardiovascular development and disease

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

Publications

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)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
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. Genes 15 (1) (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)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
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. Genes 15 (1) (2024)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
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. Genes 15 (1) (2024)
Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano, Paola Malatesta
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. Genes 15 (1) (2024)
Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino
Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements. Biomolecules 13 (5) (2023)
Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D'Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients. Journal of cardiovascular development and disease 9 (10) (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)
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)
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)
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)
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)
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)
Viola Alesi, Sara Loddo, Federica Calì, Valeria Orlando, Silvia Genovesea, Daniele Ferretti, Chiara Calacci, Giusy Calvieri, Roberto Falasca, Lucia Ulgheri, Fabrizio Drago, Bruno Dallapiccola, Anwar Baban, Antonio Novelli
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. American journal of medical genetics. Part A 179 (8) (2019)
Kyle Walter Davis, Moises Serrano, Sara Loddo, Catherine Robinson, Viola Alesi, Bruno Dallapiccola, Antonio Novelli, Merlin G Butler
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome. International journal of molecular sciences 20 (6) (2019)
Viola Alesi, Rossella Capolino, Silvia Genovesea, Teresa Capriati, Sara Loddo, Giusy Calvieri, Chiara Calacci, Andrea Diociaiuti, Antonella Diamanti, Antonio Novelli, Bruno Dallapiccola
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome. American journal of medical genetics. Part A 176 (12) (2018)