Lapi E - Search Results

1

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.

Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB. Chiesa N, et al. Among authors: lapi e. Hum Mol Genet. 2012 Jan 1;21(1):10-25. doi: 10.1093/hmg/ddr419. Epub 2011 Sep 14. Hum Mol Genet. 2012. PMID: 21920939 Free PMC article.

2

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.

Pignata L, Sparago A, Palumbo O, Andreucci E, Lapi E, Tenconi R, Carella M, Riccio A, Cerrato F. Pignata L, et al. Among authors: lapi e. Genes (Basel). 2021 Apr 16;12(4):581. doi: 10.3390/genes12040581. Genes (Basel). 2021. PMID: 33923683 Free PMC article.

3

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M. Stagi S, et al. Among authors: lapi e. BMC Med Genet. 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. BMC Med Genet. 2015. PMID: 26297663 Free PMC article. Review.

4

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome.

Stagi S, Bindi G, Galluzzi F, Lapi E, Salti R, Chiarelli F. Stagi S, et al. Among authors: lapi e. Am J Med Genet A. 2008 Jun 15;146A(12):1598-604. doi: 10.1002/ajmg.a.32348. Am J Med Genet A. 2008. PMID: 18478599

5

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

Stagi S, Lapi E, Pantaleo M, Chiarelli F, Seminara S, de Martino M. Stagi S, et al. Among authors: lapi e. BMC Med Genet. 2014 Jan 30;15:16. doi: 10.1186/1471-2350-15-16. BMC Med Genet. 2014. PMID: 24479866 Free PMC article.

6

Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.

Stagi S, Traficante G, Lapi E, Pantaleo M, Becciani S, Mortilla M, Seminara S, de Martino M. Stagi S, et al. Among authors: lapi e. BMC Endocr Disord. 2015 Oct 19;15:58. doi: 10.1186/s12902-015-0037-y. BMC Endocr Disord. 2015. PMID: 26481254 Free PMC article. Review.

7

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.

Stagi S, Lapi E, Seminara S, Guarducci S, Pantaleo M, Giglio S, Chiarelli F, de Martino M. Stagi S, et al. Among authors: lapi e. BMC Endocr Disord. 2014 Jan 8;14:3. doi: 10.1186/1472-6823-14-3. BMC Endocr Disord. 2014. PMID: 24397778 Free PMC article.

8

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.

Stagi S, Lapi E, D'Avanzo MG, Perferi G, Romano S, Giglio S, Ricci S, Azzari C, Chiarelli F, Seminara S, de Martino M. Stagi S, et al. Among authors: lapi e. BMC Med Genet. 2014 May 23;15:61. doi: 10.1186/1471-2350-15-61. BMC Med Genet. 2014. PMID: 24885139 Free PMC article.

9

A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.

Stagi S, Lapi E, Pantaleo M, Traficante G, Giglio S, Seminara S, de Martino M. Stagi S, et al. Among authors: lapi e. Hormones (Athens). 2014 Oct-Dec;13(4):552-60. doi: 10.14310/horm.2002.1523. Epub 2014 Nov 5. Hormones (Athens). 2014. PMID: 25402377 Free article. Review.

10

Bone status in genetic syndromes: a review.

Stagi S, Iurato C, Lapi E, Cavalli L, Brandi ML, de Martino M. Stagi S, et al. Among authors: lapi e. Hormones (Athens). 2015 Jan-Mar;14(1):19-31. doi: 10.1007/BF03401378. Hormones (Athens). 2015. PMID: 25885101 Free article. Review.

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