Laccone F - Search Results

1

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Colman M, Van Damme T, Steichen-Gersdorf E, Laccone F, Nampoothiri S, Syx D, Guillemyn B, Symoens S, Malfait F. Colman M, et al. Among authors: laccone f. Orphanet J Rare Dis. 2019 Jun 13;14(1):138. doi: 10.1186/s13023-019-1110-9. Orphanet J Rare Dis. 2019. PMID: 31196143 Free PMC article. Review.

2

Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease.

Seeman P, Laccone F, Reiss J, Stoppe G. Seeman P, et al. Among authors: laccone f. Hum Mutat. 1995;5(1):103-4. doi: 10.1002/humu.1380050116. Hum Mutat. 1995. PMID: 7728146 No abstract available.

3

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F. Steinkellner H, et al. Among authors: laccone f. Eur J Hum Genet. 2015 Sep;23(9):1186-91. doi: 10.1038/ejhg.2014.264. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469541 Free PMC article.

4

Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study.

Samueli S, Abraham K, Dressler A, Gröppel G, Mühlebner-Fahrngruber A, Scholl T, Kasprian G, Laccone F, Feucht M. Samueli S, et al. Among authors: laccone f. Orphanet J Rare Dis. 2016 Nov 3;11(1):145. doi: 10.1186/s13023-016-0530-z. Orphanet J Rare Dis. 2016. PMID: 27809914 Free PMC article.

5

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Nagy D, et al. Among authors: laccone f. Genes (Basel). 2022 Jan 15;13(1):154. doi: 10.3390/genes13010154. Genes (Basel). 2022. PMID: 35052493 Free PMC article.

6

Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.

Schoner K, Witsch-Baumgartner M, Behunova J, Petrovic R, Bald R, Kircher SG, Ramaswamy A, Kluge B, Meyer-Wittkopf M, Schmitz R, Fritz B, Zschocke J, Laccone F, Rehder H. Schoner K, et al. Among authors: laccone f. Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16. Birth Defects Res. 2020. PMID: 31840946 Free PMC article.

7

A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up.

Ertl DA, Raimann A, Csaicsich D, Patsch JM, Laccone F, Haeusler G. Ertl DA, et al. Among authors: laccone f. Horm Res Paediatr. 2017;87(3):196-204. doi: 10.1159/000450947. Epub 2016 Nov 1. Horm Res Paediatr. 2017. PMID: 27798933

8

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G.

Finsterer J, Laccone F. Finsterer J, et al. Among authors: laccone f. Am J Case Rep. 2020 Nov 25;21:e927938. doi: 10.12659/AJCR.927938. Am J Case Rep. 2020. PMID: 33237887 Free PMC article.

9

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.

Koenighofer M, Parzefall T, Frohne A, Frei E, Schoefer C, Laccone F, Feil P, Frei K, Lucas T. Koenighofer M, et al. Among authors: laccone f. Clin Otolaryngol. 2021 Sep;46(5):1044-1049. doi: 10.1111/coa.13782. Epub 2021 May 5. Clin Otolaryngol. 2021. PMID: 33851515 Free PMC article.

10

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Vodopiutz J, Steurer LM, Haufler F, Laccone F, Garczarczyk-Asim D, Hilkenmeier M, Steinbauer P, Janecke AR. Vodopiutz J, et al. Among authors: laccone f. Genes (Basel). 2023 Apr 7;14(4):877. doi: 10.3390/genes14040877. Genes (Basel). 2023. PMID: 37107635 Free PMC article.

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