Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

57 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
d'Adamo AP, Bianco AM, Ferrara G, La Bianca M, Insalaco A, Tommasini A, Pardeo M, Cattalini M, La Torre F, Finetti M, Alizzi C, Simonini G, Messia V, Pastore S, Cimaz R, Gattorno M, Taddio A; Italian Pediatric Rheumatology Study Group. d'Adamo AP, et al. Pediatr Rheumatol Online J. 2020 Jul 10;18(1):55. doi: 10.1186/s12969-020-00447-4. Pediatr Rheumatol Online J. 2020. PMID: 32650789 Free PMC article.
Notch Signaling Regulation in Autoinflammatory Diseases.
Gratton R, Tricarico PM, d'Adamo AP, Bianco AM, Moura R, Agrelli A, Brandão L, Zupin L, Crovella S. Gratton R, et al. Int J Mol Sci. 2020 Nov 23;21(22):8847. doi: 10.3390/ijms21228847. Int J Mol Sci. 2020. PMID: 33238371 Free PMC article. Review.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R, Marzollo A, Marinoni M, Athanasakis E, Persico I, Bianco AM, Faleschini M, Valencic E, Simoncini D, Rossini L, Corsolini F, La Bianca M, Robustelli G, Gabelli M, Agosti M, Biffi A, Grotto P, Bozzi V, Noris P, Burlina AB, D'Adamo AP, Tommasini A, Faletra F, Pastore A, Savoia A. Bottega R, et al. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L, Costa P, Zanus C, Faletra F, Murru FM, Bianco AM, La Bianca M, Ragusa G, Athanasakis E, d'Adamo AP, Carrozzi M, Gasparini P. Musante L, et al. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Persico I, Feresin A, Faleschini M, Fontana G, Sirchia F, Faletra F, La Bianca M, Suergiu S, Morgutti M, Maschio M, D'Adamo AP, Raraigh KS, Savoia A, Bottega R. Persico I, et al. Mol Genet Genomic Med. 2022 Jun;10(6):e1926. doi: 10.1002/mgg3.1926. Epub 2022 Mar 29. Mol Genet Genomic Med. 2022. PMID: 35348309 Free PMC article.
Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers.
Balasan N, Kharrat F, Di Lorenzo G, Athanasakis E, Bianco AM, Conti A, Di Stazio MT, Butera G, Cicogna S, Mangogna A, Romano F, Ricci G, d'Adamo AP. Balasan N, et al. Among authors: d adamo ap. Int J Mol Sci. 2024 Nov 8;25(22):11997. doi: 10.3390/ijms252211997. Int J Mol Sci. 2024. PMID: 39596073 Free PMC article.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286
57 results