Prontera P - Search Results

1

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.

2

Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis.

Prontera P, Buldrini B, Aiello V, Gruppioni R, Bonfatti A, Venti G, Ferlini A, Sensi A, Calzolari E, Donti E. Prontera P, et al. Prenat Diagn. 2006 Jun;26(6):571-6. doi: 10.1002/pd.1463. Prenat Diagn. 2006. PMID: 16683276

3

Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?

Prontera P, Sensi A, Merlo L, Garani G, Cocchi G, Calzolari E. Prontera P, et al. Am J Med Genet A. 2006 Oct 15;140(20):2227-30. doi: 10.1002/ajmg.a.31428. Am J Med Genet A. 2006. PMID: 16964621

4

Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion.

Prontera P, Aiello V, Toschi M, Turci A, Gruppioni R, Buldrini B, Zago S, Bonfatti A, Donti E, Calzolari E, Sensi A. Prontera P, et al. Genet Couns. 2007;18(3):309-15. Genet Couns. 2007. PMID: 18019372

5

Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.

Sensi A, Prontera P, Buldrini B, Palma S, Aiello V, Gruppioni R, Calzolari E, Volinia S, Martini A. Sensi A, et al. Among authors: prontera p. Am J Med Genet A. 2008 Jan 1;146A(1):110-5. doi: 10.1002/ajmg.a.32059. Am J Med Genet A. 2008. PMID: 18074369

6

Hot water epilepsy and Mccune-Albright syndrome: a case report.

Belcastro V, Parnetti L, Prontera P, Donti E, Rossi A, Tambasco N. Belcastro V, et al. Among authors: prontera p. Seizure. 2009 Mar;18(2):161-2. doi: 10.1016/j.seizure.2008.07.005. Epub 2008 Aug 15. Seizure. 2009. PMID: 18706835 Free article.

7

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.

8

An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.

Prontera P, Escande F, Cocchi G, Donti E, Martini A, Sensi A. Prontera P, et al. Genet Couns. 2008;19(4):397-402. Genet Couns. 2008. PMID: 19239083

9

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

10

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

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