Výsledky vyhledávání - "Pamela Roccia"

Akademický článek

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Autor: Abdul Waheed Khan, Alyssa Kennedy, Elissa Furutani, Kasiani Myers, Annalisa Frattini, Francesco Acquati, Pamela Roccia, Giovanni Micheloni, Antonella Minelli, Giovanni Porta, Marco Cipolli, Simone Cesaro, Cesare Danesino, Francesco Pasquali, Akiko Shimamura, Roberto Valli

Publikováno v: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)

Abstract Background An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwachman-Diamond syndrome

Externí odkaz: https://doaj.org/article/3fc874865da740418e5b38c9fe52d387

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Akademický článek

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Autor: Ibrahim Taha, Selena Foroni, Roberto Valli, Annalisa Frattini, Pamela Roccia, Giovanni Porta, Marco Zecca, Elena Bergami, Marco Cipolli, Francesco Pasquali, Cesare Danesino, Claudia Scotti, Antonella Minelli

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90%

Externí odkaz: https://doaj.org/article/e38c4f61baaf49bdb08f06050e0d36c4

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