Loi M - Search Results

1

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

Maraschio P, Zuffardi O, Bernardi F, Bozzola M, De Paoli C, Fonatsch C, Flatz SD, Ghersini L, Gimelli G, Loi M, Lorini R, Peretti D, Poloni L, Tonetti D, Vanni R, Zamboni G. Maraschio P, et al. Among authors: loi m. Hum Genet. 1981;57(4):345-50. doi: 10.1007/BF00281681. Hum Genet. 1981. PMID: 7286973

2

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA. Cau M, et al. Among authors: loi m. J Hum Genet. 2006;51(11):1030-1036. doi: 10.1007/s10038-006-0049-6. Epub 2006 Sep 6. J Hum Genet. 2006. PMID: 16955230

3

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.

Nucaro AL, Meloni M, Pisano T, Melis P, Rossi E, Rossino R, Corona S, Loi M, Achena F, Zuffardi O, Cianchetti C. Nucaro AL, et al. Among authors: loi m. Am J Med Genet A. 2008 Dec 15;146A(24):3242-5. doi: 10.1002/ajmg.a.32590. Am J Med Genet A. 2008. PMID: 19012344 No abstract available.

4

Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings.

Cao A, Cianchetti C, Signorini E, Loi M, Sanna G, De Virgiliis S. Cao A, et al. Among authors: loi m. Clin Genet. 1977 Nov;12(5):290-6. doi: 10.1111/j.1399-0004.1977.tb00943.x. Clin Genet. 1977. PMID: 589850

5

OCRL mutation analysis in Italian patients with Lowe syndrome.

Addis M, Loi M, Lepiani C, Cau M, Melis MA. Addis M, et al. Among authors: loi m. Hum Mutat. 2004 May;23(5):524-5. doi: 10.1002/humu.9239. Hum Mutat. 2004. PMID: 15108291

6

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.

Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA. Cau M, et al. Among authors: loi a, loi m. Eur J Med Genet. 2009 Sep-Oct;52(5):344-8. doi: 10.1016/j.ejmg.2009.05.002. Epub 2009 May 18. Eur J Med Genet. 2009. PMID: 19454328

7

Lowe syndrome.

Loi M. Loi M. Orphanet J Rare Dis. 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. Orphanet J Rare Dis. 2006. PMID: 16722554 Free PMC article. Review.

8

Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH.

Cabras V, Erriu M, Loi M, Milia A, Montaldo C, Nucaro AL. Cabras V, et al. Among authors: loi m. J Clin Pathol. 2012 Sep;65(9):851-3. doi: 10.1136/jclinpath-2011-200573. Epub 2012 May 3. J Clin Pathol. 2012. PMID: 22554962 No abstract available.

9

Subacute sclerosing panencephalitis in only one of identical twins. Case report with study of cell-mediated immunity.

Cianchetti C, Marrosu MG, Manconi PE, Loi M, Cao A. Cianchetti C, et al. Among authors: loi m. Eur Neurol. 1983;22(6):428-32. doi: 10.1159/000115597. Eur Neurol. 1983. PMID: 6607164

10

Subacute sclerosing panencephalitis and hypoparathyroidism.

Cianchetti C, De Virgiliis S, Marrosu MG, Loi M. Cianchetti C, et al. Among authors: loi m. Eur Neurol. 1985;24(3):149-52. doi: 10.1159/000115841. Eur Neurol. 1985. PMID: 3996452

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