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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. Among authors: la torre f, la bianca m. 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.
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. Among authors: la bianca m. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
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. Among authors: la bianca m. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
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. Among authors: la bianca m. 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.
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan A, Lenarduzzi S, Cappellani S, Pecile V, Morgutti M, Orzan E, Ghiselli S, Ambrosetti U, Brumat M, Gajendrarao P, La Bianca M, Faletra F, Grosso E, Sirchia F, Sensi A, Graziano C, Seri M, Gasparini P, Girotto G. Morgan A, et al. Among authors: la bianca m. Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018. Front Genet. 2018. PMID: 30622556 Free PMC article.
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Tin A, Marten J, Halperin Kuhns VL, Li Y, Wuttke M, Kirsten H, Sieber KB, Qiu C, Gorski M, Yu Z, Giri A, Sveinbjornsson G, Li M, Chu AY, Hoppmann A, O'Connor LJ, Prins B, Nutile T, Noce D, Akiyama M, Cocca M, Ghasemi S, van der Most PJ, Horn K, Xu Y, Fuchsberger C, Sedaghat S, Afaq S, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boerwinkle E, Bottinger EP, Boutin TS, Brumat M, Burkhardt R, Campana E, Campbell A, Campbell H, Carroll RJ, Catamo E, Chambers JC, Ciullo M, Concas MP, Coresh J, Corre T, Cusi D, Felicita SC, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Delgado G, Demirkan A, Devuyst O, Dittrich K, Eckardt KU, Ehret G, Endlich K, Evans MK, Gansevoort RT, Gasparini P, Giedraitis V, Gieger C, Girotto G, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V; German Chronic Kidney Disease Study; Haller T, Hamet P, Harris TB, Hayward C, Hicks AA, Hofer E, Holm H, Huang W, Hutri-Kähönen N, Hwang SJ, Ikram MA, Lewis RM, Ingelsson E, Jakobsdottir J, Jonsdottir I, Jonsson H, Joshi PK, Josyula NS, Jung B, Kähönen M, Kamatani Y, Kanai M, Kerr SM, Kiess W, Kleber ME, Koenig W, Kooner JS, Körner A, Kovacs P, Krämer BK, Kronenberg F, Kubo M, Kü… See abstract for full author list ➔ Tin A, et al. Among authors: la bianca m. Nat Genet. 2019 Oct;51(10):1459-1474. doi: 10.1038/s41588-019-0504-x. Epub 2019 Oct 2. Nat Genet. 2019. PMID: 31578528 Free PMC article.
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, Franzè A, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G. Morgan A, et al. Among authors: la bianca m. Eur J Hum Genet. 2019 Jan;27(1):70-79. doi: 10.1038/s41431-018-0229-9. Epub 2018 Sep 3. Eur J Hum Genet. 2019. PMID: 30177775 Free PMC article.
33 results