Garaci FG - Search Results

1

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S. Klopocki E, et al. Among authors: garaci fg. Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17. Am J Hum Genet. 2011. PMID: 21167467 Free PMC article.

2

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Höhne W, Tinschert S, Garaci FG, Dallapiccola B, Nürnberg P. Kornak U, et al. Among authors: garaci fg. Am J Med Genet A. 2010 Apr;152A(4):870-4. doi: 10.1002/ajmg.a.33301. Am J Med Genet A. 2010. PMID: 20358596

3

Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome.

Brancati F, Garaci FG, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: garaci fg. Am J Med Genet A. 2008 Jun 15;146A(12):1622-3. doi: 10.1002/ajmg.a.32357. Am J Med Genet A. 2008. PMID: 18478598 No abstract available.

4

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L. Sinibaldi L, et al. Among authors: garaci fg. Clin Genet. 2019 Sep;96(3):246-253. doi: 10.1111/cge.13565. Epub 2019 Jun 17. Clin Genet. 2019. PMID: 31090057

5

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Whitman MC, et al. Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6. Am J Med Genet A. 2016. PMID: 26639658 Free PMC article.

6

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Lo-Castro A, et al. Among authors: garaci fg. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184435

7

Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis.

Conte A, Brancati F, Garaci F, Toschi N, Bologna M, Fabbrini G, Falla M, Dallapiccola B, Bollero P, Floris R, Berardelli A. Conte A, et al. PLoS One. 2012;7(12):e51749. doi: 10.1371/journal.pone.0051749. Epub 2012 Dec 17. PLoS One. 2012. PMID: 23284759 Free PMC article.

8

Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report.

Pisani V, Nicoletti A, Meschini A, Marziali S, Garaci FG, Brancati F, Zappia M, Stanzione P, Pisani A. Pisani V, et al. Among authors: garaci fg. Mov Disord. 2011 Feb 1;26(2):352-4. doi: 10.1002/mds.23357. Epub 2010 Oct 13. Mov Disord. 2011. PMID: 20945435 No abstract available.

9

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

Garaci F, Marsili L, Riant F, Marziali S, Cécillon M, Pasquarelli R, Sangiuolo F, Floris R, Novelli G, Tournier-Lasserve E, Brancati F. Garaci F, et al. Neuroradiol J. 2015 Jun;28(3):289-93. doi: 10.1177/1971400915591688. Neuroradiol J. 2015. PMID: 26246098 Free PMC article.

10

Is mTOR inhibition a systemic treatment for tuberous sclerosis?

Moavero R, Coniglio A, Garaci F, Curatolo P. Moavero R, et al. Ital J Pediatr. 2013 Sep 17;39:57. doi: 10.1186/1824-7288-39-57. Ital J Pediatr. 2013. PMID: 24044547 Free PMC article. Review.

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