Bricarelli FD - Search Results

1

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.

Lo Nigro C, Faravelli F, Cavani S, Perroni L, Novello P, Vitali M, Bricarelli FD, Grasso M. Lo Nigro C, et al. Among authors: bricarelli fd. Eur J Hum Genet. 2000 Mar;8(3):157-62. doi: 10.1038/sj.ejhg.5200425. Eur J Hum Genet. 2000. PMID: 10780779

2

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD. Grasso M, et al. Among authors: bricarelli fd. Am J Med Genet. 1999 Jul 30;85(3):311-6. doi: 10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10398249

3

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: bricarelli fd. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365

4

High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms.

Bricarelli FD, Pierluigi M, Perroni L, Grasso M, Arslanian A, Sacchi N. Bricarelli FD, et al. Hum Genet. 1988 Jun;79(2):124-7. doi: 10.1007/BF00280549. Hum Genet. 1988. PMID: 2899052

5

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome.

Grasso M, Perroni L, Colella S, Piombo G, Argusti A, Lituania M, Buscaglia M, Giussani U, Grimoldi MG, Bricarelli FD. Grasso M, et al. Among authors: bricarelli fd. Am J Med Genet. 1996 Jul 12;64(1):187-90. doi: 10.1002/(SICI)1096-8628(19960712)64:1<187::AID-AJMG33>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826473

6

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME. Wildin RS, et al. Among authors: bricarelli fd. Nat Genet. 2001 Jan;27(1):18-20. doi: 10.1038/83707. Nat Genet. 2001. PMID: 11137992

7

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Faravelli F, et al. Among authors: bricarelli fd. Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. doi: 10.1002/ajmg.a.31723. Am J Med Genet A. 2007. PMID: 17480006

8

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Mainardi PC, et al. Among authors: bricarelli fd. J Med Genet. 2001 Mar;38(3):151-8. doi: 10.1136/jmg.38.3.151. J Med Genet. 2001. PMID: 11238681 Free PMC article.

9

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB. Pastorino L, et al. Among authors: bricarelli fd. Child Care Health Dev. 2005 May;31(3):351-4. doi: 10.1111/j.1365-2214.2005.00514.x. Child Care Health Dev. 2005. PMID: 15840155

10

Lack of SCN1A mutations in familial febrile seizures.

Malacarne M, Madia F, Gennaro E, Vacca D, Güney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F. Malacarne M, et al. Among authors: bricarelli fd. Epilepsia. 2002 May;43(5):559-62. doi: 10.1046/j.1528-1157.2002.29301.x. Epilepsia. 2002. PMID: 12027919 Free article.

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