Detalhe da pesquisa
1.
An opportune life: 50 years in human cytogenetics.
Annu Rev Genomics Hum Genet
; 15: 29-46, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25184528
2.
Temporal changes in chromosome abnormalities in human spontaneous abortions: Results of 40 years of analysis.
Am J Med Genet A
; 170(10): 2671-80, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287007
3.
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.
Genet Med
; 16(1): 19-24, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23703681
4.
Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.
Hum Mol Genet
; 20(1): 186-92, 2011 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20952801
5.
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.
Hum Genet
; 131(9): 1519-24, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22643917
6.
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
Am J Hum Genet
; 82(4): 927-36, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18371933
7.
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.
J Med Genet
; 47(2): 112-5, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19638350
8.
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.
Hum Reprod
; 25(5): 1335-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20228389
9.
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).
Hum Genet
; 125(2): 181-8, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19104840
10.
Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study.
Lancet Oncol
; 9(3): 239-46, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18282803
11.
Mortality in women with turner syndrome in Great Britain: a national cohort study.
J Clin Endocrinol Metab
; 93(12): 4735-42, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18812477
12.
X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X.
Eur J Hum Genet
; 16(2): 153-62, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17971834
13.
Investigation of the origins of human autosomal inversions.
Hum Genet
; 123(6): 607-16, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18470537
14.
Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study.
Hum Genet
; 123(2): 215-24, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18196273
15.
Retrospective and prospective epidemiological studies of 1,500 karyotyped spontaneous human abortions.
Birth Defects Res A Clin Mol Teratol
; 97(7): 487-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23873814
16.
Distribution of the D15Z1 copy number polymorphism.
Eur J Hum Genet
; 15(4): 441-5, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17311084
17.
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
Eur J Hum Genet
; 14(7): 831-7, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16617304
18.
Mortality in patients with Klinefelter syndrome in Britain: a cohort study.
J Clin Endocrinol Metab
; 90(12): 6516-22, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16204366
19.
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.
Eur J Hum Genet
; 13(2): 154-60, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15508017
20.
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
Eur J Hum Genet
; 13(11): 1205-12, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16118644