Tiepolo L - Search Results

1

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C. Tiepolo L, et al. Hum Genet. 1979 Oct 1;51(2):127-37. doi: 10.1007/BF00287166. Hum Genet. 1979. PMID: 511139

2

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L. Maraschio P, et al. Among authors: tiepolo l. J Med Genet. 1988 Mar;25(3):173-80. doi: 10.1136/jmg.25.3.173. J Med Genet. 1988. PMID: 3351904 Free PMC article.

3

Interphase cytogenetics of the ICF syndrome.

Maraschio P, Cortinovis M, Dainotti E, Tupler R, Tiepolo L. Maraschio P, et al. Among authors: tiepolo l. Ann Hum Genet. 1992 Jul;56(3):273-8. doi: 10.1111/j.1469-1809.1992.tb01152.x. Ann Hum Genet. 1992. PMID: 1449239

4

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.

Maraschio P, Tupler R, Dainotti E, Piantanida M, Cazzola G, Tiepolo L. Maraschio P, et al. Among authors: tiepolo l. J Med Genet. 1989 Jul;26(7):452-6. doi: 10.1136/jmg.26.7.452. J Med Genet. 1989. PMID: 2746618 Free PMC article.

5

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

Tupler R, Maraschio P, Gerardo A, Mainieri R, Lanzi G, Tiepolo L. Tupler R, et al. Among authors: tiepolo l. J Med Genet. 1992 Apr;29(4):253-5. doi: 10.1136/jmg.29.4.253. J Med Genet. 1992. PMID: 1583646 Free PMC article.

6

An analysis of Xq deletions.

Maraschio P, Tupler R, Barbierato L, Dainotti E, Larizza D, Bernardi F, Hoeller H, Garau A, Tiepolo L. Maraschio P, et al. Among authors: tiepolo l. Hum Genet. 1996 Mar;97(3):375-81. doi: 10.1007/BF02185777. Hum Genet. 1996. PMID: 8786087

7

Abnormal methylation does not prevent X inactivation in ICF patients.

Bourc'his D, Miniou P, Jeanpierre M, Molina Gomes D, Dupont J, De Saint-Basile G, Maraschio P, Tiepolo L, Viegas-Péquignot E. Bourc'his D, et al. Among authors: tiepolo l. Cytogenet Cell Genet. 1999;84(3-4):245-52. doi: 10.1159/000015269. Cytogenet Cell Genet. 1999. PMID: 10393442

8

Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.

Maserati E, Verri A, Seghezzi L, Tupler R, Federico A, Tiepolo L, Maraschio P. Maserati E, et al. Among authors: tiepolo l. Ann Genet. 1999;42(4):210-4. Ann Genet. 1999. PMID: 10674160

9

Chromosome instability and nibrin protein variants in NBS heterozygotes.

Tanzanella C, Antoccia A, Spadoni E, di Masi A, Pecile V, Demori E, Varon R, Marseglia GL, Tiepolo L, Maraschio P. Tanzanella C, et al. Among authors: tiepolo l. Eur J Hum Genet. 2003 Apr;11(4):297-303. doi: 10.1038/sj.ejhg.5200962. Eur J Hum Genet. 2003. PMID: 12708449

10

Molecular analysis of a human Y;1 translocation in an azoospermic male.

Maraschio P, Tupler R, Dainotti E, Cortinovis M, Tiepolo L. Maraschio P, et al. Among authors: tiepolo l. Cytogenet Cell Genet. 1994;65(4):256-60. doi: 10.1159/000133642. Cytogenet Cell Genet. 1994. PMID: 8258300 Review.

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