Seri M - Search Results

1

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M. Magini P, et al. Among authors: seri m. Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26236399 Free PMC article.

2

Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.

Yin L, Seri M, Barone V, Tocco T, Scaranari M, Romeo G. Yin L, et al. Among authors: seri m. Eur J Hum Genet. 1996;4(6):356-8. doi: 10.1159/000472232. Eur J Hum Genet. 1996. PMID: 9043870

3

Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.

Seri M, Bolino A, Galietta LJ, Lerone M, Silengo M, Romeo G. Seri M, et al. Hum Mutat. 1997;9(2):185-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9067762 No abstract available.

4

Strategies for the Identification of Intron-Exon Boundaries and Point Mutations: The Example of the RET Proto-Oncogene.

Ceccherini I I, Seri M, Romeo G. Ceccherini I I, et al. Among authors: seri m. Methods. 1996 Feb;9(1):98-105. doi: 10.1006/meth.1996.0013. Methods. 1996. PMID: 9245348

5

Assignment of mouse Gfra1, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse chromosome 19.

Puliti A, Cinti R, Seri M, Ceccherini I, Romeo G. Puliti A, et al. Among authors: seri m. Cytogenet Cell Genet. 1997;78(3-4):291-4. doi: 10.1159/000134675. Cytogenet Cell Genet. 1997. PMID: 9465906

6

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. Seri M, et al. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280

7

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

Turchetti D, Razzaboni E, Zomer H, Rossi C, Ferrari S, Greco D, Graziano C, Romeo G, Seri M. Turchetti D, et al. Among authors: seri m. Prenat Diagn. 2006 Dec;26(12):1156-9. doi: 10.1002/pd.1577. Prenat Diagn. 2006. PMID: 17009341

8

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M. Panza E, et al. Among authors: seri m. Int J Mol Med. 2007 Mar;19(3):429-35. Int J Mol Med. 2007. PMID: 17273791

9

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.

Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro RF, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V. Deglincerti A, et al. Among authors: seri m. Eur J Hum Genet. 2007 Aug;15(8):889-97. doi: 10.1038/sj.ejhg.5201844. Epub 2007 May 9. Eur J Hum Genet. 2007. PMID: 17487221

10

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M. Graziano C, et al. Among authors: seri m. Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808. Am J Med Genet A. 2007. PMID: 17595013 No abstract available.

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