Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med. 2020 Jan;8(1):e1056. doi: 10.1002/mgg3.1056. Epub 2019 Dec 18.
Mol Genet Genomic Med. 2020.
PMID: 31851782
Free PMC article.
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Garzo M, Catusi I, Colombo DM, De Grada L, Recalcati MP, Rodeschini O, Barone C, Beltrami N, Busuito R, Cappellani S, Ciaschini AM, Gulisano A, Malpezzi E, Pecile V, Pittalis MC, Romitti L, Stioui S, Larizza L, Giardino D.
Garzo M, et al. Among authors: ciaschini am.
Eur J Med Genet. 2020 Feb;63(2):103639. doi: 10.1016/j.ejmg.2019.03.003. Epub 2019 Mar 8.
Eur J Med Genet. 2020.
PMID: 30858057
Item in Clipboard
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.
Bonaglia MC, Bertuzzo S, Ciaschini AM, Discepoli G, Castiglia L, Romaniello R, Zuffardi O, Fichera M.
Bonaglia MC, et al. Among authors: ciaschini am.
Mol Cytogenet. 2020 Jun 11;13:22. doi: 10.1186/s13039-020-00490-6. eCollection 2020.
Mol Cytogenet. 2020.
PMID: 32536973
Free PMC article.
Item in Clipboard
Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3-->qter defined by FISH.
Migliori MV, Ciaschini AM, Discepoli G, Abbasciano V, Barbato M, Pannone E.
Migliori MV, et al. Among authors: ciaschini am.
Ann Genet. 2002 Jan-Mar;45(1):9-12. doi: 10.1016/s0003-3995(02)01102-4.
Ann Genet. 2002.
PMID: 11934383
Item in Clipboard
Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation.
Migliori MV, Pettinari A, Ciaschini AM, Piermattei P, Pigliapoco F, Discepoli G.
Migliori MV, et al. Among authors: ciaschini am.
Prenat Diagn. 2004 Apr;24(4):290-2. doi: 10.1002/pd.862.
Prenat Diagn. 2004.
PMID: 15065104
Item in Clipboard
Cite
Cite