Di Cara G - Search Results

1

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

Farnè M, Tedesco GM, Bedetti C, Mencarelli A, Rogaia D, Colavito D, Di Cara G, Stangoni G, Troiani S, Ferlini A, Prontera P. Farnè M, et al. Among authors: di cara g. Am J Med Genet A. 2020 Oct;182(10):2377-2383. doi: 10.1002/ajmg.a.61773. Epub 2020 Aug 3. Am J Med Genet A. 2020. PMID: 32744787

2

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, Tedesco MG, Rogaia D, Mencarelli A, Di Cara G, Verrotti A, Troiani S, Merla G, Tartaglia M, Prontera P. Flex E, et al. Among authors: di cara g. Genes (Basel). 2021 Sep 12;12(9):1406. doi: 10.3390/genes12091406. Genes (Basel). 2021. PMID: 34573388 Free PMC article.

3

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.

Prontera P, Isidori I, Mencarini V, Pennoni G, Mencarelli A, Stangoni G, Di Cara G, Verrotti A. Prontera P, et al. Among authors: di cara g. Public Health Genomics. 2016;19(6):336-341. doi: 10.1159/000450849. Epub 2016 Oct 12. Public Health Genomics. 2016. PMID: 27728908

4

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, Sadikovic B, Prontera P. Rooney K, et al. Among authors: di venere e, di cara g. Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611. Int J Mol Sci. 2021. PMID: 34445317 Free PMC article.

5

Soy-Based Infant Formula: Are Phyto-Oestrogens Still in Doubt?

Testa I, Salvatori C, Di Cara G, Latini A, Frati F, Troiani S, Principi N, Esposito S. Testa I, et al. Among authors: di cara g. Front Nutr. 2018 Nov 23;5:110. doi: 10.3389/fnut.2018.00110. eCollection 2018. Front Nutr. 2018. PMID: 30533415 Free PMC article. Review.

6

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.

Dell'Isola GB, Mencaroni E, Fattorusso A, Tascini G, Prontera P, Imperatore V, Di Cara G, Striano P, Verrotti A. Dell'Isola GB, et al. Among authors: di cara g. BMC Med Genomics. 2022 Aug 17;15(1):181. doi: 10.1186/s12920-022-01313-w. BMC Med Genomics. 2022. PMID: 35978409 Free PMC article.

7

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

Franceschini P, Licata D, Di Cara G, Guala A, Bianchi M, Ingrosso G, Franceschini D. Franceschini P, et al. Among authors: di cara g. Am J Med Genet. 1999 Sep 10;86(2):174-9. Am J Med Genet. 1999. PMID: 10449656 Review.

8

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: di cara g. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.

9

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

Franceschini P, Licata D, Guala A, Di Cara G, Signorile F, Franceschini D, Genitori L, Restagno G. Franceschini P, et al. Among authors: di cara g. Am J Med Genet. 1998 Dec 4;80(4):303-8. Am J Med Genet. 1998. PMID: 9856554 Review.

10

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L. Franceschini P, et al. Among authors: di cara g. Am J Med Genet. 2000 Feb 14;90(4):265-9. Am J Med Genet. 2000. PMID: 10710221

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