Publications by authors named "Manuela Oppo"

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Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Andrea Angius, Paolo Uva, Manuela Oppo, Insa Buers, Ivana Persico

Clin Genet· May 2019

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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano

Am J Med Genet A· April 2019

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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Rita Maria Alves, Paolo Uva, Marielza F Veiga, Manuela Oppo, Fabiana C R Zschaber

BMC Med Genet· January 2019

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Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.
Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, Renato Borgatti, Gabriela Stangoni, Manuela Oppo

Bone· September 2018

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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu

Am J Hum Genet· April 2018

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A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.
Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, Manuela Oppo, Mohammed Nasser Al Kindi

J Hum Genet· February 2017

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Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
Eleonora Palagano, Lucia Susani, Ciro Menale, Ugo Ramenghi, Massimo Berger, Manuela Oppo

J Bone Miner Res· January 2017

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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu

Am J Hum Genet· July 2016

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Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
Frederic Reinier, Magdalena Zoledziewska, David Hanna, Josh D Smith, Maria Valentini, Manuela Oppo

Metabolism· November 2015

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Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
Eleonora Palagano, Harry C Blair, Alessandra Pangrazio, Irina Tourkova, Dario Strina, Manuela Oppo

J Bone Miner Res· October 2015

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, Maria Valentini, Luca Zammataro

Bone· February 2014

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Genetic variants regulating immune cell levels in health and disease.
Valeria Orrù, Maristella Steri, Gabriella Sole, Carlo Sidore, Francesca Virdis, Manuela Oppo

Cell· September 2013

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Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny.
Paolo Francalacci, Laura Morelli, Andrea Angius, Riccardo Berutti, Frederic Reinier, Manuela Oppo

Science· August 2013

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