Seri M - Search Results

1

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Nagara M, Papagregoriou G, Ben Abdallah R, Landoulsi Z, Bouyacoub Y, Elouej S, Kefi R, Pippucci T, Voskarides K, Bashamboo A, McElreavey K, Hachicha M, Romeo G, Seri M, Deltas C, Abdelhak S. Nagara M, et al. Among authors: seri m. Eur J Med Genet. 2018 Jan;61(1):1-7. doi: 10.1016/j.ejmg.2017.10.002. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024829

2

Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome.

Silengo M, Lerone M, Seri M, Romeo G. Silengo M, et al. Among authors: seri m. Am J Med Genet. 1996 Dec 18;66(3):368. doi: 10.1002/(SICI)1096-8628(19961218)66:3<368::AID-AJMG28>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8985504 No abstract available.

3

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

4

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

5

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

6

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

7

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.

8

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Melchionda S, Seri M, Carella M, Piemontese MR, Zhang XX, Zelante L, Romeo G, Gasparini P. Melchionda S, et al. Among authors: seri m. Eur J Hum Genet. 1998 Jul-Aug;6(4):345-9. doi: 10.1038/sj.ejhg.5200191. Eur J Hum Genet. 1998. PMID: 9781042

9

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

10

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

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