Romeo G - Search Results

1

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: romeo g. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158

2

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.

Panza E, Pippucci T, Cusano R, Lo Nigro C, Pradella L, Contardi S, Rouleau GA, Stevanin G, Ravazzolo R, Liguori R, Montagna P, Romeo G, Seri M. Panza E, et al. Among authors: romeo g. Eur J Neurol. 2008 May;15(5):520-4. doi: 10.1111/j.1468-1331.2008.02117.x. Eur J Neurol. 2008. PMID: 18394049

3

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: romeo g. 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.

4

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: romeo g. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793 Free article.

5

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: romeo g. 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.

6

Reply to ten Kate et al.

Gialluisi A, Pippucci T, Romeo G. Gialluisi A, et al. Among authors: romeo g. Eur J Hum Genet. 2014 Feb;22(2):157-8. doi: 10.1038/ejhg.2013.153. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860043 Free PMC article. No abstract available.

7

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: romeo g. 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

8

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: romeo g. 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

9

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).

Gialluisi A, Pippucci T, Anikster Y, Ozbek U, Medlej-Hashim M, Mégarbané A, Romeo G. Gialluisi A, et al. Among authors: romeo g. Ann Hum Genet. 2012 Mar;76(2):159-67. doi: 10.1111/j.1469-1809.2011.00693.x. Epub 2011 Dec 21. Ann Hum Genet. 2012. PMID: 22188137

10

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: romeo g. Methods. 1996 Feb;9(1):98-105. doi: 10.1006/meth.1996.0013. Methods. 1996. PMID: 9245348

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