Gentile M - Search Results

1

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Zollino M, et al. Among authors: gentile m. J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424144

2

COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.

Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G. Gentile M, et al. Am J Med Genet. 1996 Aug 23;64(3):514-20. doi: 10.1002/(SICI)1096-8628(19960823)64:3<514::AID-AJMG13>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8862632

3

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. J Med Genet. 1999 Jan;36(1):77-82. J Med Genet. 1999. PMID: 9950374 Free PMC article.

4

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. 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

5

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. 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

6

Holt-Oram syndrome associated with anomalies of the feet.

Garavelli L, De Brasi D, Verri R, Guareschi E, Cariola F, Melis D, Calcagno G, Salvatore F, Unger S, Sebastio G, Albertini G, Rivieri F, Soli F, Superti-Furga A, Gentile M. Garavelli L, et al. Among authors: gentile m. Am J Med Genet A. 2008 May 1;146A(9):1185-9. doi: 10.1002/ajmg.a.32170. Am J Med Genet A. 2008. PMID: 18351627

7

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

Piccione M, Niceta M, Antona V, Di Fiore A, Cariola F, Gentile M, Corsello G. Piccione M, et al. Among authors: gentile m. Am J Med Genet A. 2009 Aug;149A(8):1837-41. doi: 10.1002/ajmg.a.32952. Am J Med Genet A. 2009. PMID: 19610100 No abstract available.

8

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: gentile m. 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

9

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E. Terrone G, et al. Among authors: gentile m. Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29. Eur J Med Genet. 2012. PMID: 22659270

10

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.

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