Maria R. Piemontese
San Giovanni Rotondo, Italy
Last Updated: 09/26/2026
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Found 8 publications
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 06, 2021
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Journal: Frontiers in genetics
Published: September 13, 2019
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: July 28, 2014
Naevoid basal cell carcinoma syndrome in a 22-month-old child presenting with multiple basal cell carcinomas and a fetal rhabdomyoma.
Journal: Acta dermato-venereologica
Published: May 13, 2014
Ehlers-Danlos syndrome versus cleidocranial dysplasia.
Journal: Italian journal of pediatrics
Published: February 25, 2014
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Journal: American journal of medical genetics. Part A
Published: July 25, 2013
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.
Journal: Science (New York, N.Y.)
Published: September 29, 2012
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.
Journal: American journal of medical genetics. Part A
Published: April 10, 2012
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Last Updated: 09/26/2026