Guerrini R - Search Results

1

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Ferri L, Cavicchi C, Fiumara A, Parini R, Guerrini R, Morrone A. Ferri L, et al. Among authors: guerrini r. Clin Chim Acta. 2016 Jan 15;452:82-6. doi: 10.1016/j.cca.2015.10.027. Epub 2015 Nov 1. Clin Chim Acta. 2016. PMID: 26528637

2

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

Caciotti A, Donati MA, Adami A, Guerrini R, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: guerrini r. Eur J Gastroenterol Hepatol. 2008 Feb;20(2):118-21. doi: 10.1097/MEG.0b013e3282f172e6. Eur J Gastroenterol Hepatol. 2008. PMID: 18188031

3

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R. Mei D, et al. Among authors: guerrini r. J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19. J Med Genet. 2008. PMID: 18285425

4

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Filoni C, Caciotti A, Carraresi L, Donati MA, Mignani R, Parini R, Filocamo M, Soliani F, Simi L, Guerrini R, Zammarchi E, Morrone A. Filoni C, et al. Among authors: guerrini r. Eur J Hum Genet. 2008 Nov;16(11):1311-7. doi: 10.1038/ejhg.2008.109. Epub 2008 Jun 18. Eur J Hum Genet. 2008. PMID: 18560446

5

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.

Caciotti A, Donati MA, d'Azzo A, Salvioli R, Guerrini R, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: guerrini r. Eur J Paediatr Neurol. 2009 Mar;13(2):160-4. doi: 10.1016/j.ejpn.2008.03.004. Epub 2008 Jun 20. Eur J Paediatr Neurol. 2009. PMID: 18571950

6

GALNS gene expression profiling in Morquio A patients' fibroblasts.

Carraresi L, Parini R, Filoni C, Caciotti A, Sersale G, Tomatsu S, Orlando C, Zammarchi E, Guerrini R, Donati MA, Morrone A. Carraresi L, et al. Among authors: guerrini r. Clin Chim Acta. 2008 Nov;397(1-2):72-6. doi: 10.1016/j.cca.2008.07.021. Epub 2008 Jul 25. Clin Chim Acta. 2008. PMID: 18710657

7

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Cavicchi C, Malvagia S, la Marca G, Gasperini S, Donati MA, Zammarchi E, Guerrini R, Morrone A, Pasquini E. Cavicchi C, et al. Among authors: guerrini r. J Pharm Biomed Anal. 2009 Jul 12;49(5):1292-5. doi: 10.1016/j.jpba.2009.03.001. Epub 2009 Mar 20. J Pharm Biomed Anal. 2009. PMID: 19359120

8

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A. Caciotti A, et al. Among authors: guerrini r. J Neurol. 2009 Nov;256(11):1911-5. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1. J Neurol. 2009. PMID: 19568825 Review.

9

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R. Mei D, et al. Among authors: guerrini r. Epilepsia. 2010 Apr;51(4):647-54. doi: 10.1111/j.1528-1167.2009.02308.x. Epub 2009 Sep 22. Epilepsia. 2010. PMID: 19780792 Free article.

10

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Filoni C, Caciotti A, Carraresi L, Cavicchi C, Parini R, Antuzzi D, Zampetti A, Feriozzi S, Poisetti P, Garman SC, Guerrini R, Zammarchi E, Donati MA, Morrone A. Filoni C, et al. Among authors: guerrini r. Biochim Biophys Acta. 2010 Feb;1802(2):247-52. doi: 10.1016/j.bbadis.2009.11.003. Epub 2009 Nov 24. Biochim Biophys Acta. 2010. PMID: 19941952 Free PMC article.

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