Prontera P - Search Results

1

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: prontera p. 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.

2

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. 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.

3

A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.

Prontera P, Ferrando B, Giuliani V, Falcinelli F, Mencarelli A, Rogaia D, Pasini B, Donti E. Prontera P, et al. Genet Couns. 2008;19(4):413-8. Genet Couns. 2008. PMID: 19239085

4

2q31.2q32.3 deletion syndrome: report of an adult patient.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E. Prontera P, et al. Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688. Am J Med Genet A. 2009. PMID: 19248183

5

Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q).

Prontera P, Buldrini B, Aiello V, Rogaia D, Mencarelli A, Gruppioni R, Bonfatti A, Beltrami N, Donti E, Sensi A. Prontera P, et al. Genet Couns. 2010;21(1):91-7. Genet Couns. 2010. PMID: 20420035

6

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. 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.

7

Deletion 2p15-16.1 syndrome: case report and review.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E. Prontera P, et al. Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910216 Review.

8

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E. Prontera P, et al. Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990121

9

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.

Prontera P, Urciuoli R, Siliquini S, Macone S, Stangoni G, Donti E, Cantisani TA, Elia M, Belcastro V. Prontera P, et al. Am J Med Genet A. 2011 Dec;155A(12):3125-7. doi: 10.1002/ajmg.a.34295. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052670 No abstract available.

10

Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, Guercini G, Mencarelli A, Donti E. Prontera P, et al. Mol Syndromol. 2013 Apr;4(4):197-202. doi: 10.1159/000350040. Epub 2013 Apr 11. Mol Syndromol. 2013. PMID: 23801936 Free PMC article.

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