Seri M - Search Results

1

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM. Milev MP, et al. Among authors: seri m. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120216

2

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

3

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

4

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.

5

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

Ferrero GB, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC. Ferrero GB, et al. Among authors: seri m. Eur J Pediatr. 2010 Feb;169(2):223-8. doi: 10.1007/s00431-009-1011-3. Epub 2009 Jun 18. Eur J Pediatr. 2010. PMID: 19536562

6

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

Graziano C, Carone S, Panza E, Marino F, Magini P, Romeo G, Pession A, Seri M. Graziano C, et al. Among authors: seri m. Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24. Blood. 2009. PMID: 19553636 Free article.

7

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

Cordelli DM, Garone C, Marchiani V, Lodi R, Tonon C, Ferrari S, Seri M, Franzoni E. Cordelli DM, et al. Among authors: seri m. Neuromuscul Disord. 2010 May;20(5):343-5. doi: 10.1016/j.nmd.2010.03.003. Epub 2010 Mar 28. Neuromuscul Disord. 2010. PMID: 20350809

8

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Pippucci T, et al. Among authors: seri m. Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006. Am J Hum Genet. 2011. PMID: 21211618 Free PMC article.

9

Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E. Garone C, et al. Among authors: seri m. Dev Med Child Neurol. 2011 Oct;53(10):958-61. doi: 10.1111/j.1469-8749.2011.03993.x. Epub 2011 May 18. Dev Med Child Neurol. 2011. PMID: 21592092 Free article.

10

EX-HOM (EXome HOMozygosity): a proof of principle.

Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Among authors: seri m. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

314 results

Search Page

Filters