Sani I - Search Results

1

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

Guazzarotti L, Tadini G, Mancini GE, Giglio S, Willoughby CE, Callea M, Sani I, Nannini P, Mameli C, Tenconi AA, Mauri S, Bottero A, Caimi A, Morelli M, Zuccotti GV. Guazzarotti L, et al. Among authors: sani i. Clin Genet. 2015 Apr;87(4):338-42. doi: 10.1111/cge.12404. Epub 2014 May 30. Clin Genet. 2015. PMID: 24724966

2

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

Callea M, Cammarata-Scalisi F, Willoughby CE, Giglio SR, Sani I, Bargiacchi S, Traficante G, Bellacchio E, Tadini G, Yavuz I, Galeotti A, Clarich G. Callea M, et al. Among authors: sani i. Arch Argent Pediatr. 2017 Feb 1;115(1):e34-e38. doi: 10.5546/aap.2017.e34. Arch Argent Pediatr. 2017. PMID: 28097853 Free article. Spanish.

3

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.

Callea M, Nieminen P, Willoughby CE, Clarich G, Yavuz I, Vinciguerra A, Di Stazio M, Giglio S, Sani I, Maglione M, Pensiero S, Tadini G, Bellacchio E. Callea M, et al. Among authors: sani i. J Eur Acad Dermatol Venereol. 2016 Feb;30(2):341-3. doi: 10.1111/jdv.12747. Epub 2014 Sep 30. J Eur Acad Dermatol Venereol. 2016. PMID: 25266272 No abstract available.

4

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).

Guazzarotti L, Tadini G, Mancini GE, Sani I, Pisanelli S, Galderisi F, D'Auria E, Secondi R, Bottero A, Zuccotti GV. Guazzarotti L, et al. Among authors: sani i. Clin Genet. 2018 Mar;93(3):693-698. doi: 10.1111/cge.13147. Epub 2017 Nov 8. Clin Genet. 2018. PMID: 28976000

5

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

Callea M, Willoughby CE, Nieminen P, Di Stazio M, Bellacchio E, Giglio S, Sani I, Vinciguerra A, Maglione M, Tadini G, Clarich G. Callea M, et al. Among authors: sani i. J Eur Acad Dermatol Venereol. 2015 May;29(5):1032-4. doi: 10.1111/jdv.12457. Epub 2014 Mar 18. J Eur Acad Dermatol Venereol. 2015. PMID: 24641098 No abstract available.

6

A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia.

Guazzarotti L, Sani I, Giglio S, Brunello F, Perilongo G, Bocciardi R. Guazzarotti L, et al. Among authors: sani i. Clin Genet. 2021 Mar;99(3):486-487. doi: 10.1111/cge.13889. Epub 2020 Dec 1. Clin Genet. 2021. PMID: 33258108 No abstract available.

7

A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.

Piccione M, Serra G, Sanfilippo C, Andreucci E, Sani I, Corsello G. Piccione M, et al. Among authors: sani i. Minerva Pediatr. 2012 Feb;64(1):59-64. Minerva Pediatr. 2012. PMID: 22350046

8

Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/anhidrotic ectodermal dysplasia: definition of short stature, molecular characterization and long-term hGH replacement treatment to final height.

Stagi S, Lapi E, Sani I, Bindi G, Quaranta MR, Salti R, Chiarelli F. Stagi S, et al. Among authors: sani i. J Pediatr Endocrinol Metab. 2009 Sep;22(9):853-8. doi: 10.1515/jpem.2009.22.9.853. J Pediatr Endocrinol Metab. 2009. PMID: 19960895

9

First report of hereditary Christ-Siemens-Touraine syndrome and non-segmental vitiligo association in a young adult: contraindication for vitiligo treatment.

Garcovich S, Gnarra M, Murabit A, Arena V, Sani I, Feliciani C. Garcovich S, et al. Among authors: sani i. J Eur Acad Dermatol Venereol. 2016 Feb;30(2):346-8. doi: 10.1111/jdv.12756. Epub 2014 Oct 22. J Eur Acad Dermatol Venereol. 2016. PMID: 25339629 No abstract available.

10

Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender-determining system of the CODIS core system.

Ricci U, Sani I, Guarducci S, Biondi C, Pelagatti S, Lazzerini V, Brusaferri A, Lapini M, Andreucci E, Giunti L, Giovannucci Uzielli ML. Ricci U, et al. Among authors: sani i. Electrophoresis. 2000 Nov;21(17):3564-70. doi: 10.1002/1522-2683(200011)21:17<3564::AID-ELPS3564>3.0.CO;2-O. Electrophoresis. 2000. PMID: 11271472

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