Seri M - Search Results

1

Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

Gangarossa S, Seri M, Pecci A, Di Bari F, Cusano R, Balduini C, Gasparini P, Savoia A. Gangarossa S, et al. Among authors: seri m. Int J Mol Med. 2005 Sep;16(3):437-41. Int J Mol Med. 2005. PMID: 16077952

2

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

3

A new candidate region for the positional cloning of the XLP gene.

Bolino A, Yin L, Seri M, Cusano R, Cinti R, Coffey A, Brooksbank R, Howell G, Bentley D, Davis JR, Lanyi A, Huang D, Stark M, Creaven M, Bjørkhaug L, Heitzmann F, Lamartine J, Gaudi S, Sylla BS, Lenoir GM, Castagnola E, Giacchino R, Porta G, Franco B, Zollo M, Sumegi J, Romeo G. Bolino A, et al. Among authors: seri m. Eur J Hum Genet. 1998 Sep-Oct;6(5):509-17. doi: 10.1038/sj.ejhg.5200249. Eur J Hum Genet. 1998. PMID: 9801876

4

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, Bini R, Morra VB, De Michele G, Lerone M, Silengo M, Pela I, Borrone C, Romeo G, Devoto M. Seri M, et al. Am J Hum Genet. 1999 Feb;64(2):586-93. doi: 10.1086/302241. Am J Hum Genet. 1999. PMID: 9973297 Free PMC article.

5

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.

Seri M, Martucciello G, Paleari L, Bolino A, Priolo M, Salemi G, Forabosco P, Caroli F, Cusano R, Tocco T, Lerone M, Cama A, Torre M, Guys JM, Romeo G, Jasonni V. Seri M, et al. Hum Genet. 1999 Jan;104(1):108-10. doi: 10.1007/s004390050919. Hum Genet. 1999. PMID: 10071202

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

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.

Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC. Mori PG, et al. Among authors: seri m. Am J Med Genet. 1999 Nov 5;87(1):36-9. Am J Med Genet. 1999. PMID: 10528244

8

Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions.

Fimiani M, Seri M, Rubegni P, Cusano R, De Aloe G, Forabosco P, Devoto M, Andreassi L, Renieri A. Fimiani M, et al. Among authors: seri m. Arch Dermatol Res. 1999 Dec;291(12):637-42. doi: 10.1007/s004030050468. Arch Dermatol Res. 1999. PMID: 10651164

9

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Seri M, et al. Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063. Nat Genet. 2000. PMID: 10973259

10

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri GM, Russo G, Iolascon A, Ravazzolo R, Seri M. Cusano R, et al. Among authors: seri m. Eur J Hum Genet. 2000 Nov;8(11):895-9. doi: 10.1038/sj.ejhg.5200533. Eur J Hum Genet. 2000. PMID: 11093280

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