Baffico AM - Search Results

1

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.

Cavarzere P, Pietrobelli A, Gandini A, Munari S, Baffico AM, Maffei M, Gaudino R, Guzzo A, Arrigoni M, Coviello D, Piacentini G, Antoniazzi F. Cavarzere P, et al. Among authors: baffico am. J Endocrinol Invest. 2024 May;47(5):1237-1250. doi: 10.1007/s40618-023-02243-9. Epub 2023 Dec 12. J Endocrinol Invest. 2024. PMID: 38087044

2

The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.

Sondo E, Cresta F, Pastorino C, Tomati V, Capurro V, Pesce E, Lena M, Iacomino M, Baffico AM, Coviello D, Bandiera T, Zara F, Galietta LJV, Bocciardi R, Castellani C, Pedemonte N. Sondo E, et al. Among authors: baffico am. Int J Mol Sci. 2022 Mar 15;23(6):3175. doi: 10.3390/ijms23063175. Int J Mol Sci. 2022. PMID: 35328596 Free PMC article.

3

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.

Babu D, Vannelli S, Fanelli A, Mellone S, Baffico AM, Corrado L, Essa WA, Grandone A, Bellone S, Monzani A, Vinci G, De Sanctis L, Stuppia L, Prodam F, Giordano M. Babu D, et al. Among authors: baffico am. Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9. Eur J Hum Genet. 2021. PMID: 32647378 Free PMC article.

4

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

Tonni G, Palmisano M, Lituania M, Grisolia G, Baffico AM, Bonasoni MP, Pattacini P, De Felice C, Araujo Júnior E. Tonni G, et al. Among authors: baffico am. Taiwan J Obstet Gynecol. 2016 Dec;55(6):771-776. doi: 10.1016/j.tjog.2015.10.027. Taiwan J Obstet Gynecol. 2016. PMID: 28040117 Free article.

5

Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys.

Tonni G, Palmisano M, Ventura A, Grisolia G, Baffico AM, Pattacini P, Bonasoni MP, De Felice C. Tonni G, et al. Among authors: baffico am. Congenit Anom (Kyoto). 2014 Nov;54(4):233-9. doi: 10.1111/cga.12066. Congenit Anom (Kyoto). 2014. PMID: 24854045

6

Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).

Tonni G, Palmisano M, Ginocchi V, Ventura A, Baldi M, Baffico AM. Tonni G, et al. Among authors: baffico am. Congenit Anom (Kyoto). 2014 Nov;54(4):228-32. doi: 10.1111/cga.12056. Congenit Anom (Kyoto). 2014. PMID: 24517215

7

Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.

Barone C, Bartoloni G, Baffico AM, Pappalardo E, Mura I, Ettore G, Bianca S. Barone C, et al. Among authors: baffico am. Congenit Anom (Kyoto). 2014 Aug;54(3):193-4. doi: 10.1111/cga.12054. Congenit Anom (Kyoto). 2014. PMID: 24451061 No abstract available.

8

p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.

Tonni G, Ventura A, Pattacini P, Bonasoni MP, Baffico AM. Tonni G, et al. Among authors: baffico am. J Obstet Gynaecol Res. 2013 May;39(5):1085-91. doi: 10.1111/jog.12032. Epub 2013 Apr 3. J Obstet Gynaecol Res. 2013. PMID: 23551858

9

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

Censi F, Tosto F, Floridia G, Marra M, Salvatore M, Baffico AM, Grasso M, Melis MA, Pelo E, Radice P, Ravani A, Rosatelli C, Resta N, Russo S, Seia M, Varesco L, Falbo V, Taruscio D. Censi F, et al. Among authors: baffico am. Biomed Res Int. 2013;2013:739010. doi: 10.1155/2013/739010. Epub 2013 Jan 29. Biomed Res Int. 2013. PMID: 23484150 Free PMC article.

10

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G. De Marco P, et al. Among authors: baffico am. Eur J Med Genet. 2011 Sep-Oct;54(5):e478-83. doi: 10.1016/j.ejmg.2011.05.007. Epub 2011 Jun 25. Eur J Med Genet. 2011. PMID: 21708297

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