Accogli A - Search Results

1

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: accogli a. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391

2

Kiwifruit Anaphylaxis: The Usefulness of Molecular-Based Allergy Diagnostics.

Tosca MA, Pistorio A, Accogli A, Silvestri M, Rossi GA, Ciprandi G. Tosca MA, et al. Among authors: accogli a. J Investig Allergol Clin Immunol. 2015;25(3):227-9. J Investig Allergol Clin Immunol. 2015. PMID: 26182694 Free article. No abstract available.

3

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Accogli A, Pacetti M, Fiaschi P, Pavanello M, Piatelli G, Nuzzi D, Baldi M, Tassano E, Severino MS, Allegri A, Capra V. Accogli A, et al. Am J Med Genet A. 2015 Mar;167A(3):646-52. doi: 10.1002/ajmg.a.36933. Am J Med Genet A. 2015. PMID: 25691418 Review.

4

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, Cuoco C. Tassano E, et al. Among authors: accogli a. Eur J Med Genet. 2016 Jan;59(1):20-5. doi: 10.1016/j.ejmg.2015.11.011. Epub 2015 Dec 2. Eur J Med Genet. 2016. PMID: 26656975

5

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Lemay P, De Marco P, Emond A, Spiegelman D, Dionne-Laporte A, Laurent S, Merello E, Accogli A, Rouleau GA, Capra V, Kibar Z. Lemay P, et al. Among authors: accogli a. Hum Mutat. 2017 Jun;38(6):716-724. doi: 10.1002/humu.23214. Epub 2017 Mar 24. Hum Mutat. 2017. PMID: 28276201

6

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. Accogli A, et al. Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464487

7

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.

Merello E, Tattini L, Magi A, Accogli A, Piatelli G, Pavanello M, Tortora D, Cama A, Kibar Z, Capra V, De Marco P. Merello E, et al. Among authors: accogli a. Eur J Hum Genet. 2017 Aug;25(8):952-959. doi: 10.1038/ejhg.2017.71. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513615 Free PMC article.

8

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

Tortora D, Severino M, Accogli A, Martinetti C, Vercellino N, Capra V, Rossi A, Pavanello M. Tortora D, et al. Among authors: accogli a. World Neurosurg. 2017 Dec;108:291-302. doi: 10.1016/j.wneu.2017.08.176. Epub 2017 Sep 5. World Neurosurg. 2017. PMID: 28887276 Review.

9

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V. Scala M, et al. Among authors: accogli a. Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5. Am J Med Genet A. 2018. PMID: 29314551 Review.

10

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Pisciotta L, et al. Among authors: accogli a. Neuropediatrics. 2018 Jun;49(3):217-221. doi: 10.1055/s-0038-1639372. Epub 2018 Apr 9. Neuropediatrics. 2018. PMID: 29631299

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