Seri M - Search Results

1

Touitou I, Magne X, Molinari N, Navarro A, Quellec AL, Picco P, Seri M, Ozen S, Bakkaloglu A, Karaduman A, Garnier JM, Demaille J, Koné-Paut I. Touitou I, et al. Among authors: seri m. Hum Mutat. 2000 Sep;16(3):271-2. doi: 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980540

2

MICA gene polymorphisms in an Italian paediatric series of juvenile Behçet disease.

Picco P, Porfirio B, Gattorno M, Buoncompagni A, Falcini F, Cusano R, Bordo D, Pistoia V, Ravazzolo R, Seri M. Picco P, et al. Among authors: seri m. Int J Mol Med. 2002 Nov;10(5):575-8. Int J Mol Med. 2002. PMID: 12373294

3

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I. D'Osualdo A, et al. Among authors: seri m. Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323. Eur J Hum Genet. 2005. PMID: 15536479

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

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A. Meloni I, et al. Among authors: seri m. Hum Mutat. 2001;18(1):85. doi: 10.1002/humu.1157. Hum Mutat. 2001. PMID: 11439001

6

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L. Doimo M, et al. Among authors: seri m. Hum Mutat. 2013 Jan;34(1):229-36. doi: 10.1002/humu.22233. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23076989

7

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

8

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.

Bocciardi R, Giorda R, Marigo V, Zordan P, Montanaro D, Gimelli S, Seri M, Lerone M, Ravazzolo R, Gimelli G. Bocciardi R, et al. Among authors: seri m. Hum Mutat. 2005 Nov;26(5):426-36. doi: 10.1002/humu.20235. Hum Mutat. 2005. PMID: 16145689

9

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A. Pecci A, et al. Among authors: seri m. Hum Mutat. 2008 Mar;29(3):409-17. doi: 10.1002/humu.20661. Hum Mutat. 2008. PMID: 18059020

10

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.

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