Cammarata-Scalisi F - Search Results

1

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.

Cammarata-Scalisi F, Matysiak U, Velten T, Callea M, Araque D, Willoughby CE, Galeotti A, Avendaño A. Cammarata-Scalisi F, et al. Mol Syndromol. 2019 May;10(3):167-170. doi: 10.1159/000496553. Epub 2019 Feb 9. Mol Syndromol. 2019. PMID: 31191206 Free PMC article.

2

[Clinical and molecular study of the Noonan syndrome].

Cammarata-Scalisi F, Neri G, Pomponi MG, Mancano G, Da Silva G, Avendaño A, Lacruz-Rengel MA, Stock F, Sosa A. Cammarata-Scalisi F, et al. Invest Clin. 2012 Dec;53(4):395-401. Invest Clin. 2012. PMID: 23513489 Spanish.

3

[Mosaic trisomy 13].

Cammarata-Scalisi F, Araque D, Lacruz-Rengel MA, Valera-Ruíz B. Cammarata-Scalisi F, et al. An Pediatr (Barc). 2013 Dec;79(6):402-3. doi: 10.1016/j.anpedi.2013.03.016. Epub 2013 May 15. An Pediatr (Barc). 2013. PMID: 23684171 Free article. Spanish. No abstract available.

4

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].

Callea M, Yavuz I, Clarich G, Cammarata-Scalisi F. Callea M, et al. Arch Argent Pediatr. 2015 Dec 1;113(6):e341-4. doi: 10.5546/aap.2015.e341. Arch Argent Pediatr. 2015. PMID: 26593813 Free article. Spanish.

5

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia.

Callea M, Bellacchio E, Fattori F, Bertini E, Callea F, Cammarata-Scalisi F. Callea M, et al. Leuk Lymphoma. 2016 Sep;57(9):2189-91. doi: 10.3109/10428194.2015.1115030. Epub 2015 Dec 24. Leuk Lymphoma. 2016. PMID: 26700323 No abstract available.

6

Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.

Cammarata-Scalisi F, Natsuga K, Toyonaga E, Nishie W, Shimizu H, Avendaño A, Araque D, Da Silva G, Bellacchio E, Callea M. Cammarata-Scalisi F, et al. J Eur Acad Dermatol Venereol. 2017 Feb;31(2):e94-e96. doi: 10.1111/jdv.13800. Epub 2016 Jul 21. J Eur Acad Dermatol Venereol. 2017. PMID: 27445120 No abstract available.

7

A case of Beckwith-Wiedemann syndrome with peculiar dental findings.

Callea M, Yavuz I, Clarich G, Gunay A, Vinciguerra A, Unal M, Sahbaz C, Sinan Dogan M, Cammarata-Scalisi F. Callea M, et al. Eur J Paediatr Dent. 2016 Dec;17(4):315-317. Eur J Paediatr Dent. 2016. PMID: 28045321

8

Blood malignancies presenting with mutations at equivalent residues in RUNX1-2 suggest a common leukemogenic pathway.

Callea M, Fattori F, Bertini ES, Cammarata-Scalisi F, Callea F, Bellacchio E. Callea M, et al. Leuk Lymphoma. 2017 Aug;58(8):2002-2004. doi: 10.1080/10428194.2016.1274980. Epub 2017 Jan 16. Leuk Lymphoma. 2017. PMID: 28093006 No abstract available.

9

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

Callea M, Cammarata-Scalisi F, Willoughby CE, Giglio SR, Sani I, Bargiacchi S, Traficante G, Bellacchio E, Tadini G, Yavuz I, Galeotti A, Clarich G. Callea M, et al. Arch Argent Pediatr. 2017 Feb 1;115(1):e34-e38. doi: 10.5546/aap.2017.e34. Arch Argent Pediatr. 2017. PMID: 28097853 Free article. Spanish.

10

[Mosaic trisomy 18. Series of cases].

Cammarata-Scalisi F, Lacruz-Rengel MA, Araque D, Da Silva G, Avendaño A, Callea M, Stock F, Guerrero Y, Aguilar E, Lacruz MJ, Sulbaran J. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2017 Jun 1;115(3):e183-e186. doi: 10.5546/aap.2017.e183. Arch Argent Pediatr. 2017. PMID: 28504507 Free article. Spanish.

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