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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

51 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V. Genovesi ML, et al. Among authors: traversa a. Bone. 2021 Mar;144:115803. doi: 10.1016/j.bone.2020.115803. Epub 2021 Jan 12. Bone. 2021. PMID: 33333243
Novel SMAD4 mutation causing Myhre syndrome.
Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M. Caputo V, et al. Among authors: traversa a. Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715504
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
Mastromoro G, Gambardella S, Marchionni E, Campopiano R, Traversa A, Di Bonaventura C, Pizzuti A. Mastromoro G, et al. Among authors: traversa a. Neurodegener Dis. 2019;19(2):96-100. doi: 10.1159/000502906. Epub 2019 Oct 2. Neurodegener Dis. 2019. PMID: 31578030
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A. Traversa A, et al. Mol Genet Genomic Med. 2020 Jan;8(1):e1054. doi: 10.1002/mgg3.1054. Epub 2019 Nov 22. Mol Genet Genomic Med. 2020. PMID: 31756055 Free PMC article.
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Martinelli S, Cordeddu V, Galosi S, Lanzo A, Palma E, Pannone L, Ciolfi A, Di Nottia M, Rizza T, Bocchinfuso G, Traversa A, Caputo V, Farrotti A, Carducci C, Bernardini L, Cogo S, Paglione M, Venditti M, Bentivoglio A, Ng J, Kurian MA, Civiero L, Greggio E, Stella L, Trettel F, Sciaccaluga M, Roseti C, Carrozzo R, Fucile S, Limatola C, Di Schiavi E, Tartaglia M, Leuzzi V. Martinelli S, et al. Among authors: traversa a. Parkinsonism Relat Disord. 2020 Mar;72:75-79. doi: 10.1016/j.parkreldis.2020.02.003. Epub 2020 Feb 15. Parkinsonism Relat Disord. 2020. PMID: 32120303
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Traversa A, Marchionni E, Giovannetti A, Genovesi ML, Panzironi N, Margiotti K, Napoli G, Piceci Sparascio F, De Luca A, Petrizzelli F, Carella M, Cardona F, Bernardo S, Manganaro L, Mazza T, Pizzuti A, Caputo V. Traversa A, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1336. doi: 10.1002/mgg3.1336. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519823 Free PMC article.
Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode.
Hauser J, Pisa E, Arias Vásquez A, Tomasi F, Traversa A, Chiodi V, Martin FP, Sprenger N, Lukjancenko O, Zollinger A, Metairon S, Schneider N, Steiner P, Martire A, Caputo V, Macrì S. Hauser J, et al. Among authors: traversa a. Mol Psychiatry. 2021 Jul;26(7):2854-2871. doi: 10.1038/s41380-021-01054-9. Epub 2021 Mar 4. Mol Psychiatry. 2021. PMID: 33664475 Free PMC article.
51 results