Gentile M - Search Results

1

Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome.

Gentile M, Fiorente P. Gentile M, et al. Am J Med Genet. 1999 Nov 5;87(1):82-3. Am J Med Genet. 1999. PMID: 10528254 No abstract available.

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

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Doherty D, et al. Among authors: gentile m. J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574260 Free PMC article.

5

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

6

The familial adenomatous polyposis region exhibits many different haplotypes.

Stella A, Resta N, Polizzi A, Montera M, Cariola F, Susca F, Gismondi V, Bertario L, Marchese C, Tenconi R, Tibiletti MG, Izzo P, Gentile M, Prete F, Pannarale O, Di Matteo G, Sala P, Varesco L, Mareni C, Guanti G. Stella A, et al. Among authors: gentile m. Hum Genet. 1998 Jun;102(6):624-8. doi: 10.1007/s004390050752. Hum Genet. 1998. PMID: 9703421

7

Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature.

Castellana G, Gentile M, Castellana R, Fiorente P, Lamorgese V. Castellana G, et al. Among authors: gentile m. Am J Med Genet. 2002 Aug 1;111(2):220-4. doi: 10.1002/ajmg.10530. Am J Med Genet. 2002. PMID: 12210357 Review.

8

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

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

Familial adenomatous polyposis: identification of a new frameshift mutation of the APC gene in an Italian family.

Stella A, Lonoce A, Resta N, Gentile M, Susca F, Mareni C, Brescia G, Origoni P, Montero MP, Guanti G. Stella A, et al. Among authors: gentile m. Biochem Biophys Res Commun. 1992 May 15;184(3):1357-63. doi: 10.1016/s0006-291x(05)80032-4. Biochem Biophys Res Commun. 1992. PMID: 1350438

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