Cammarata-Scalisi F - Search Results

1

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.

2

[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].

Cammarata-Scalisi F, Matysiak-Scholze U, Heinze J, Barrera A, Lacruz-Rengel MA, Bracho A, Guerrero Y. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2015 Jan;113(1):e10-3. doi: 10.5546/aap.2015.e10. Arch Argent Pediatr. 2015. PMID: 25622169 Free article. Spanish.

3

TSC2/PKD1 contiguous gene síndrome.

Cammarata-Scalisi F, Vidales Moreno C, Zara-Chirinos C, Bracho A, Pérez D. Cammarata-Scalisi F, et al. Nefrologia. 2017 Nov-Dec;37(6):663-665. doi: 10.1016/j.nefro.2017.03.002. Nefrologia. 2017. PMID: 29122219 Free article. English, Spanish. No abstract available.

4

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Ritelli M, Cammarata-Scalisi F, Cinquina V, Colombi M. Ritelli M, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00735. doi: 10.1002/mgg3.735. Epub 2019 May 21. Mol Genet Genomic Med. 2019. PMID: 31115174 Free PMC article. Review.

5

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.

Delgado Luengo WN, Miranda Contreras LE, Chávez CJ, Solis-Añez E, Cammarata-Scalisi F. Delgado Luengo WN, et al. Invest Clin. 2014 Dec;55(4):365-70. Invest Clin. 2014. PMID: 25558755

6

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, Bracho A, Sánchez Y, Stock F, Delgado-Luengo W, Zara-Chirinos C, Chacín JA. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2015 Apr;113(2):e109-12. doi: 10.5546/aap.2015.e109. Arch Argent Pediatr. 2015. PMID: 25727835 Free article. Spanish.

7

Clinical and genetic findings of two cases with Apert syndrome.

Cammarata-Scalisi F, Yilmaz E, Callea M, Avendaño A, Mıhçı E, Alper OM. Cammarata-Scalisi F, et al. Bol Med Hosp Infant Mex. 2019;76(1):44-48. doi: 10.24875/BMHIM.18000053. Bol Med Hosp Infant Mex. 2019. PMID: 30657466 English.

8

Clinical, etiopathogenic, and therapeutic aspects of KID syndrome.

Cammarata-Scalisi F, Willoughby CE, Cárdenas Tadich A, Labrador N, Herrera A, Callea M. Cammarata-Scalisi F, et al. Dermatol Ther. 2020 Jul;33(4):e13507. doi: 10.1111/dth.13507. Epub 2020 Jul 4. Dermatol Ther. 2020. PMID: 32367610 Review.

9

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

López-Gallardo E, Cammarata-Scalisi F, Emperador S, Hernández-Ainsa C, Habbane M, Vela-Sebastián A, Bayona-Bafaluy MP, Montoya J, Ruiz-Pesini E. López-Gallardo E, et al. Clin Genet. 2020 May;97(5):731-735. doi: 10.1111/cge.13701. Epub 2020 Jan 9. Clin Genet. 2020. PMID: 31912494

10

Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.

Cammarata-Scalisi F, Callea M, Martinelli D, Willoughby CE, Tadich AC, Araya Castillo M, Lacruz-Rengel MA, Medina M, Grimaldi P, Bertini E, Nevado J. Cammarata-Scalisi F, et al. Genes (Basel). 2022 Mar 12;13(3):504. doi: 10.3390/genes13030504. Genes (Basel). 2022. PMID: 35328058 Free PMC article. Review.

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