Stangoni G - Search Results

1

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P. Cinque L, et al. Among authors: stangoni g. J Clin Endocrinol Metab. 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250. J Clin Endocrinol Metab. 2017. PMID: 28938448

2

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Prontera P, Micale L, Verrotti A, Napolioni V, Stangoni G, Merla G. Prontera P, et al. Among authors: stangoni g. Hum Mutat. 2015 Nov;36(11):1043-7. doi: 10.1002/humu.22853. Epub 2015 Aug 24. Hum Mutat. 2015. PMID: 26252249

3

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Lucchetti L, Prontera P, Mencarelli A, Sallicandro E, Mencarelli A, Cofini M, Leonardi A, Stangoni G, Penta L, Esposito S. Lucchetti L, et al. Among authors: stangoni g. Front Endocrinol (Lausanne). 2018 Apr 10;9:163. doi: 10.3389/fendo.2018.00163. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 29692759 Free PMC article.

4

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Prontera P, Stangoni G, Ardisia C, Rogaia D, Mencarelli A, Donti E. Prontera P, et al. Among authors: stangoni g. Am J Med Genet A. 2011 Apr;155A(4):928-30. doi: 10.1002/ajmg.a.33817. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416586 No abstract available.

5

A novel MED12 mutation: Evidence for a fourth phenotype.

Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: stangoni g. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.

6

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G. Prontera P, et al. Among authors: stangoni g. Int J Mol Sci. 2017 Sep 17;18(9):1998. doi: 10.3390/ijms18091998. Int J Mol Sci. 2017. PMID: 28926972 Free PMC article. Review.

7

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Mencarelli A, Prontera P, Mencarelli A, Rogaia D, Stangoni G, Cecconi M, Esposito S. Mencarelli A, et al. Among authors: stangoni g. Int J Mol Sci. 2018 Oct 16;19(10):3189. doi: 10.3390/ijms19103189. Int J Mol Sci. 2018. PMID: 30332768 Free PMC article.

8

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.

Prontera P, Isidori I, Mencarini V, Pennoni G, Mencarelli A, Stangoni G, Di Cara G, Verrotti A. Prontera P, et al. Among authors: stangoni g. Public Health Genomics. 2016;19(6):336-341. doi: 10.1159/000450849. Epub 2016 Oct 12. Public Health Genomics. 2016. PMID: 27728908

9

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Prontera P, Rogaia D, Sallicandro E, Mencarelli A, Imperatore V, Squeo GM, Merla G, Elisei S, Moretti-Ferreira D, Esposito S, Stangoni G. Prontera P, et al. Among authors: stangoni g. Eur J Hum Genet. 2019 Aug;27(8):1260-1266. doi: 10.1038/s41431-019-0385-6. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936464 Free PMC article.

10

Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).

Prontera P, Stangoni G, Manes I, Mencarelli A, Donti E. Prontera P, et al. Among authors: stangoni g. Am J Med Genet A. 2009 Mar;149A(3):543-5. doi: 10.1002/ajmg.a.32692. Am J Med Genet A. 2009. PMID: 19215040 No abstract available.

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