Detalhe da pesquisa
1.
Abnormal thyroid function is common in takotsubo syndrome and depends on two distinct mechanisms: results of a multicentre observational study.
J Intern Med
; 289(5): 675-687, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179374
2.
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Clin Genet
; 87(5): 461-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805811
3.
7q11.23 Microduplication: a recognizable phenotype.
Clin Genet
; 83(2): 155-61, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22369319
4.
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.
Cytogenet Genome Res
; 124(1): 102-5, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19372675
5.
Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis.
Eur J Med Genet
; 50(4): 291-300, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17584536
6.
Complex chromosomal rearrangements.
Genet Couns
; 18(1): 57-69, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17515301
7.
Measurement of locus copy number by hybridisation with amplifiable probes.
Nucleic Acids Res
; 28(2): 605-9, 2000 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-10606661
8.
ZNF232: structure and expression analysis of a novel human C(2)H(2) zinc finger gene, member of the SCAN/LeR domain subfamily.
Biochim Biophys Acta
; 1518(3): 300-5, 2001 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-11311944
9.
Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
Eur J Hum Genet
; 9(7): 527-32, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11464244
10.
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
Eur J Hum Genet
; 6(5): 432-8, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9801867
11.
SV40-mediated immortalization of human fibroblasts.
Exp Gerontol
; 31(1-2): 303-10, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8706800
12.
Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.
Am J Med Genet
; 84(3): 306-8, 1999 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-10331614
13.
Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.
Am J Med Genet
; 64(1): 234-8, 1996 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-8826482
14.
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.
Am J Med Genet
; 84(3): 184-90, 1999 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-10331587
15.
Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.
Am J Med Genet
; 84(3): 217-20, 1999 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-10331595
16.
Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology.
Genet Couns
; 8(1): 1-6, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9101271
17.
A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
Gene
; 530(1): 138-42, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23973723
18.
FMR1 repeat analysis in patients with ovarian dysfunction or failure.
Am J Med Genet
; 83(4): 329-30, 1999 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-10208173
19.
Frequencies of "grey-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada.
Am J Med Genet
; 84(3): 195-7, 1999 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-10331589
20.
Variation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.
Hum Biol
; 70(3): 621-9, 1998 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-9599948