Manara E - Search Results

1

Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema.

Mukenge S, Jha SK, Catena M, Manara E, Leppänen VM, Lenti E, Negrini D, Bertelli M, Brendolan A, Jeltsch M, Aldrighetti L. Mukenge S, et al. Among authors: manara e. Mol Genet Genomic Med. 2020 Sep;8(9):e1389. doi: 10.1002/mgg3.1389. Epub 2020 Jun 26. Mol Genet Genomic Med. 2020. PMID: 32592340 Free PMC article.

2

Genetic tests in lymphatic vascular malformations and lymphedema.

Michelini S, Paolacci S, Manara E, Eretta C, Mattassi R, Lee BB, Bertelli M. Michelini S, et al. Among authors: manara e. J Med Genet. 2018 Apr;55(4):222-232. doi: 10.1136/jmedgenet-2017-105064. Epub 2018 Feb 9. J Med Genet. 2018. PMID: 29440349

3

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.

Gatticchi L, Vešelényiová D, Miertus J, Enrico Maltese P, Manara E, Costantini A, Benedetti S, Ďurovčíková D, Krajcovic J, Bertelli M. Gatticchi L, et al. Among authors: manara e. Mol Genet Genomic Med. 2021 Apr;9(4):e1630. doi: 10.1002/mgg3.1630. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724725 Free PMC article.

4

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.

Temel SG, Ergoren MC, Manara E, Paolacci S, Tuncel G, Gul S, Bertelli M. Temel SG, et al. Among authors: manara e. Eur J Hum Genet. 2020 Dec;28(12):1675-1680. doi: 10.1038/s41431-020-0673-1. Epub 2020 Jun 18. Eur J Hum Genet. 2020. PMID: 32555393 Free PMC article.

5

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation.

Tavian D, Missaglia S, Michelini S, Maltese PE, Manara E, Mordente A, Bertelli M. Tavian D, et al. Among authors: manara e. Int J Mol Sci. 2020 Jul 20;21(14):5112. doi: 10.3390/ijms21145112. Int J Mol Sci. 2020. PMID: 32698337 Free PMC article.

6

Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema.

Michelini S, Amato B, Ricci M, Kenanoglu S, Veselenyiova D, Kurti D, Baglivo M, Manara E, Dundar M, Krajcovic J, Basha SH, Priya S, Serrani R, Miggiano GAD, Aquilanti B, Matera G, Velluti V, Gagliardi L, Dautaj A, Bertelli M. Michelini S, et al. Among authors: manara e. Genes (Basel). 2020 Nov 17;11(11):1361. doi: 10.3390/genes11111361. Genes (Basel). 2020. PMID: 33212964 Free PMC article.

7

Electrical Stimulation in the Treatment of Lymphedema and Associated Skin Ulcers.

Baglivo M, Martelli F, Paolacci S, Manara E, Michelini S, Bertelli M. Baglivo M, et al. Among authors: manara e. Lymphat Res Biol. 2020 Jun;18(3):270-276. doi: 10.1089/lrb.2019.0052. Epub 2019 Nov 20. Lymphat Res Biol. 2020. PMID: 31730410 Review.

8

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

Paolacci S, Kiani AK, Manara E, Beccari T, Ceccarini MR, Stuppia L, Chiurazzi P, Dalla Ragione L, Bertelli M. Paolacci S, et al. Among authors: manara e. Mol Genet Genomic Med. 2020 Jul;8(7):e1244. doi: 10.1002/mgg3.1244. Epub 2020 May 5. Mol Genet Genomic Med. 2020. PMID: 32368866 Free PMC article. Review.

9

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

Mattassi R, Manara E, Colombo PG, Manara S, Porcella A, Bruno G, Bruson A, Bertelli M. Mattassi R, et al. Among authors: manara s, manara e. J Vasc Surg. 2018 Mar;67(3):922-932.e11. doi: 10.1016/j.jvs.2017.02.034. Epub 2017 Jun 24. J Vasc Surg. 2018. PMID: 28655553 Free article.

10

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.

Marino V, Dal Cortivo G, Oppici E, Maltese PE, D'Esposito F, Manara E, Ziccardi L, Falsini B, Magli A, Bertelli M, Dell'Orco D. Marino V, et al. Among authors: manara e. Hum Mol Genet. 2018 Dec 15;27(24):4204-4217. doi: 10.1093/hmg/ddy311. Hum Mol Genet. 2018. PMID: 30184081

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