Baccarin M - Search Results

1

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

Bedeschi MF, Calvello M, Paganini L, Pezzani L, Baccarin M, Fontana L, Sirchia SM, Guerneri S, Canazza L, Leva E, Colombo L, Lalatta F, Mosca F, Tabano S, Miozzo M. Bedeschi MF, et al. Among authors: baccarin m. BMC Med Genet. 2017 Oct 18;18(1):115. doi: 10.1186/s12881-017-0470-z. BMC Med Genet. 2017. PMID: 29047350 Free PMC article.

2

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

Ronzoni L, Peron A, Bianchi V, Baccarin M, Guerneri S, Silipigni R, Lalatta F, Bedeschi MF. Ronzoni L, et al. Among authors: baccarin m. Am J Med Genet A. 2015 Jul;167(7):1551-9. doi: 10.1002/ajmg.a.37063. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25851921

3

Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.

Silipigni R, Cattaneo E, Baccarin M, Fumagalli M, Bedeschi MF. Silipigni R, et al. Among authors: baccarin m. Eur J Med Genet. 2016 Jan;59(1):39-42. doi: 10.1016/j.ejmg.2015.12.005. Epub 2015 Dec 15. Eur J Med Genet. 2016. PMID: 26700408

4

7p22.1 microduplication syndrome: Refinement of the critical region.

Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, Milani D. Ronzoni L, et al. Among authors: baccarin m. Eur J Med Genet. 2017 Feb;60(2):114-117. doi: 10.1016/j.ejmg.2016.11.005. Epub 2016 Nov 16. Eur J Med Genet. 2017. PMID: 27866048

5

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

Bedeschi MF, Marangi G, Calvello MR, Ricciardi S, Leone FPC, Baccarin M, Guerneri S, Orteschi D, Murdolo M, Lattante S, Frangella S, Keena B, Harr MH, Zackai E, Zollino M. Bedeschi MF, et al. Among authors: baccarin m. Eur J Med Genet. 2017 Nov;60(11):565-571. doi: 10.1016/j.ejmg.2017.08.004. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807867

6

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.

Silipigni R, Monfrini E, Baccarin M, Giangiobbe S, Lalatta F, Guerneri S, Bedeschi MF. Silipigni R, et al. Among authors: baccarin m. Cytogenet Genome Res. 2017;153(2):73-80. doi: 10.1159/000485226. Epub 2017 Dec 20. Cytogenet Genome Res. 2017. PMID: 29258113

7

Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome.

Peron A, Boito S, Rizzuti T, Borzani I, Baccarin M, Bedeschi MF, Lalatta F. Peron A, et al. Among authors: baccarin m. Genet Med. 2018 Nov;20(11):1483-1484. doi: 10.1038/gim.2018.19. Genet Med. 2018. PMID: 29517766 Free article. No abstract available.

8

HOXA genes cluster: clinical implications of the smallest deletion.

Pezzani L, Milani D, Manzoni F, Baccarin M, Silipigni R, Guerneri S, Esposito S. Pezzani L, et al. Among authors: baccarin m. Ital J Pediatr. 2015 Apr 10;41:31. doi: 10.1186/s13052-015-0137-3. Ital J Pediatr. 2015. PMID: 25881986 Free PMC article.

9

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F. Magini P, et al. Among authors: baccarin m. Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612164

10

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome.

Milani D, Cagnoli GA, Baccarin M, Alfei E, Guerneri S, Esposito S. Milani D, et al. Among authors: baccarin m. Congenit Anom (Kyoto). 2016 Jul;56(4):187-189. doi: 10.1111/cga.12164. Congenit Anom (Kyoto). 2016. PMID: 27038333

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