Seri M - Search Results

1

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: seri m. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213

2

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Renieri A, Seri M, Myers JC, Pihlajaniemi T, Massella L, Rizzoni G, De Marchi M. Renieri A, et al. Among authors: seri m. Hum Mol Genet. 1992 May;1(2):127-9. doi: 10.1093/hmg/1.2.127. Hum Mol Genet. 1992. PMID: 1363780

3

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massella L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, et al. Renieri A, et al. Among authors: seri m. Hum Genet. 1993 Oct;92(4):417-20. doi: 10.1007/BF01247348. Hum Genet. 1993. PMID: 8225325

4

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

5

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.

6

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G. Seri M, et al. Hum Mutat. 1997;9(3):243-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8. Hum Mutat. 1997. PMID: 9090527

7

A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

Seri M, Celli I, Betsos N, Claudiani F, Camera G, Romeo G. Seri M, et al. Clin Genet. 1997 Feb;51(2):86-90. doi: 10.1111/j.1399-0004.1997.tb02425.x. Clin Genet. 1997. PMID: 9111993

8

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

9

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

10

Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?

Silengo M, Silvestro L, Capizzi G, Lerone M, Seri M, Rosaia L, Romeo G. Silengo M, et al. Among authors: seri m. J Med Genet. 1998 Feb;35(2):157-8. doi: 10.1136/jmg.35.2.157. J Med Genet. 1998. PMID: 9507398 Free PMC article.

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