Buonadonna AL - Search Results

1

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.

Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M. Margari L, et al. Among authors: buonadonna al. Am J Med Genet A. 2012 Jul;158A(7):1713-8. doi: 10.1002/ajmg.a.35400. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639464

2

Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.

Gentile M, Volpe P, Cariola F, Di Carlo A, Marotta V, Buonadonna AL, Boscia FM. Gentile M, et al. Among authors: buonadonna al. Am J Med Genet A. 2005 Jul 1;136(1):66-70. doi: 10.1002/ajmg.a.30506. Am J Med Genet A. 2005. PMID: 15940687 Review.

3

14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.

Gentile M, De Mattia D, Pansini A, Schettini F, Buonadonna AL, Capozza M, Ficarella R, Laforgia N. Gentile M, et al. Among authors: buonadonna al. Am J Med Genet A. 2016 Jul;170(7):1884-8. doi: 10.1002/ajmg.a.37691. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27148860

4

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna AL. Gentile M, et al. Among authors: buonadonna al. Am J Med Genet A. 2004 Jun 1;127A(2):186-90. doi: 10.1002/ajmg.a.20672. Am J Med Genet A. 2004. PMID: 15108208

5

Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).

Gentile M, Buonadonna AL, Cariola F, Fiorente P, Valenzano MC, Guanti G. Gentile M, et al. Among authors: buonadonna al. J Med Genet. 1999 Jan;36(1):77-82. J Med Genet. 1999. PMID: 9950374 Free PMC article.

6

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL. Gentile M, et al. Among authors: buonadonna al. Am J Med Genet A. 2003 Mar 15;117A(3):251-4. doi: 10.1002/ajmg.a.10018. Am J Med Genet A. 2003. PMID: 12599188

7

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.

Ponzi E, Gentile M, Agolini E, Matera E, Palumbi R, Buonadonna AL, Peschechera A, Gabellone A, Antonucci MF, Margari L. Ponzi E, et al. Among authors: buonadonna al. Mol Genet Genomic Med. 2020 Jul;8(7):e1289. doi: 10.1002/mgg3.1289. Epub 2020 May 16. Mol Genet Genomic Med. 2020. PMID: 32415730 Free PMC article. Review.

8

FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II.

Gentile M, De Sanctis S, Cariola F, Spezzi T, Di Carlo A, Tontoli F, Lista F, Buonadonna AL. Gentile M, et al. Among authors: buonadonna al. Eur J Med Genet. 2005 Jan-Mar;48(1):33-9. doi: 10.1016/j.ejmg.2005.01.020. Epub 2005 Feb 1. Eur J Med Genet. 2005. PMID: 15953404

9

Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opercular dysplasia.

d'Orsi G, Pascarella MG, Pansini A, Buonadonna AL, Trivisano M, Pacillo F, Carapelle E, Demaio V, Minervini M, Gentile M, Specchio LM. d'Orsi G, et al. Among authors: buonadonna al. Am J Med Genet A. 2013 May;161A(5):1194-5. doi: 10.1002/ajmg.a.35859. Epub 2013 Mar 25. Am J Med Genet A. 2013. PMID: 23529863 No abstract available.

10

Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation.

Buonadonna AL, Cariola F, Caroppo E, Di Carlo A, Fiorente P, Valenzano MC, D'Amato G, Gentile M. Buonadonna AL, et al. Hum Reprod. 2002 Mar;17(3):564-9. doi: 10.1093/humrep/17.3.564. Hum Reprod. 2002. PMID: 11870104

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