Pezzani L - Search Results

1

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H. von Wintzingerode L, et al. Among authors: pezzani l. Genet Med. 2023 Jul;25(7):100859. doi: 10.1016/j.gim.2023.100859. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092538 Free article.

2

Anemic nevus in neurofibromatosis type 1.

Tadini G, Brena M, Pezzani L, Gelmetti C, Santagada F, Boldrini MP. Tadini G, et al. Among authors: pezzani l. Dermatology. 2013;226(2):115-8. doi: 10.1159/000346643. Epub 2013 May 22. Dermatology. 2013. PMID: 23713063

3

HOXA genes cluster: clinical implications of the smallest deletion.

Pezzani L, Milani D, Manzoni F, Baccarin M, Silipigni R, Guerneri S, Esposito S. Pezzani L, et al. Ital J Pediatr. 2015 Apr 10;41:31. doi: 10.1186/s13052-015-0137-3. Ital J Pediatr. 2015. PMID: 25881986 Free PMC article.

4

Is it time to change the neurofibromatosis 1 diagnostic criteria?

Tadini G, Milani D, Menni F, Pezzani L, Sabatini C, Esposito S. Tadini G, et al. Among authors: pezzani l. Eur J Intern Med. 2014 Jul;25(6):506-10. doi: 10.1016/j.ejim.2014.04.004. Epub 2014 Apr 29. Eur J Intern Med. 2014. PMID: 24784952 Review.

5

Preliminary evaluation of cord blood platelet gel for the treatment of skin lesions in children with dystrophic epidermolysis bullosa.

Tadini G, Guez S, Pezzani L, Marconi M, Greppi N, Manzoni F, Rebulla P, Esposito S. Tadini G, et al. Among authors: pezzani l. Blood Transfus. 2015 Jan;13(1):153-8. doi: 10.2450/2014.0160-14. Epub 2014 Oct 29. Blood Transfus. 2015. PMID: 25369602 Free PMC article. No abstract available.

6

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Pezzani L, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Among authors: pezzani l. J Dermatol Sci. 2014 Jul;75(1):66-8. doi: 10.1016/j.jdermsci.2014.04.004. Epub 2014 Apr 18. J Dermatol Sci. 2014. PMID: 24815019 No abstract available.

7

A multidisciplinary approach in neurofibromatosis 1.

Milani D, Pezzani L, Tadini G, Menni F, Esposito S. Milani D, et al. Among authors: pezzani l. Lancet Neurol. 2015 Jan;14(1):29-30. doi: 10.1016/S1474-4422(14)70255-8. Lancet Neurol. 2015. PMID: 25496892 No abstract available.

8

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. Milani D, et al. Among authors: pezzani l. Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. Ital J Pediatr. 2015. PMID: 25599811 Free PMC article. Review.

9

Ectodermal dysplasias: the p63 tail.

Tadini G, Santagada F, Brena M, Pezzani L, Nannini P. Tadini G, et al. Among authors: pezzani l. G Ital Dermatol Venereol. 2013 Feb;148(1):53-8. G Ital Dermatol Venereol. 2013. PMID: 23407076

10

Unraveling the mystery of the disorder of keratinization: the path of syndromic ichthyoses.

Pezzani L, Brena M, Santagada F, Faure E, Tadini G. Pezzani L, et al. G Ital Dermatol Venereol. 2013 Feb;148(1):1-12. G Ital Dermatol Venereol. 2013. PMID: 23407073 Review.

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