Accogli A - Search Results

1

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: accogli a. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.

2

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.

Accogli A, Pavanello M, Accorsi P, De Marco P, Merello E, Pacetti M, Nozza P, Fiorillo C, Pinelli L, Cama A, Rossi A, Catala M, Capra V. Accogli A, et al. Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):530-5. doi: 10.1002/bdra.23489. Epub 2016 Apr 18. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27087621

3

Egg allergy: the relevance 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. Clin Exp Allergy. 2014 Aug;44(8):1094-5. doi: 10.1111/cea.12360. Clin Exp Allergy. 2014. PMID: 24974970 No abstract available.

4

Food anaphylaxis in children: Peculiarity of characteristics.

Tosca MA, Pistorio A, Accogli A, Rossi GA, Ciprandi G. Tosca MA, et al. Among authors: accogli a. Allergol Immunopathol (Madr). 2015 Jul-Aug;43(4):421-3. doi: 10.1016/j.aller.2014.04.007. Epub 2014 Aug 1. Allergol Immunopathol (Madr). 2015. PMID: 25088673 No abstract available.

5

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.

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

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.

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

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M. Accogli A, et al. Am J Med Genet A. 2018 Apr;176(4):985-991. doi: 10.1002/ajmg.a.38628. Epub 2018 Feb 12. Am J Med Genet A. 2018. PMID: 29430868

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