Accogli A - Search Results

1

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

Tassano E, Accogli A, Ronchetto P, Tortora D, Tavella E, Gimelli G, Mancardi M, Malacarne M, Coviello DA. Tassano E, et al. Among authors: accogli a. Eur J Med Genet. 2020 Dec;63(12):104094. doi: 10.1016/j.ejmg.2020.104094. Epub 2020 Nov 4. Eur J Med Genet. 2020. PMID: 33160097

2

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.

Tassano E, Accogli A, Panigada S, Ronchetto P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: accogli a. Mol Cytogenet. 2014 Jul 21;7:49. doi: 10.1186/1755-8166-7-49. eCollection 2014. Mol Cytogenet. 2014. PMID: 25076984 Free PMC article.

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

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Severino M, Accogli A, Gimelli G, Rossi A, Kotzeva S, Di Rocco M, Ronchetto P, Cuoco C, Tassano E. Severino M, et al. Among authors: accogli a. Mol Cytogenet. 2015 Mar 5;8:17. doi: 10.1186/s13039-015-0121-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 25774222 Free PMC article.

5

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

6

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.

7

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.

8

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

9

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A, Scala M, Calcagno A, Napoli F, Di Iorgi N, Arrigo S, Mancardi MM, Prato G, Pisciotta L, Nagel M, Severino M, Capra V. Accogli A, et al. Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17. Eur J Med Genet. 2019. PMID: 30026055

10

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.

Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program; Nigro V, Capra V. Accogli A, et al. Am J Med Genet A. 2018 Dec;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20. Am J Med Genet A. 2018. PMID: 30238602 Review.

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