Detalhe da pesquisa
2.
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia.
Nature
; 508(7494): 98-102, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24670643
3.
An opportune life: 50 years in human cytogenetics.
Annu Rev Genomics Hum Genet
; 15: 29-46, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25184528
4.
An interview with...Patricia Jacobs.
Nat Rev Genet
; 12(6): 384, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21577227
5.
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
6.
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
7.
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
8.
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
9.
Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009.
Am J Med Genet A
; 158A(5): 1151-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22438132
10.
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
11.
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
12.
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
13.
Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review.
Dev Med Child Neurol
; 52(2): 119-29, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20059514
14.
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
15.
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
16.
The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC).
Wellcome Open Res
; 4: 116, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32258425
17.
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
18.
Is the prevalence of Klinefelter syndrome increasing?
Eur J Hum Genet
; 16(2): 163-70, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18000523
19.
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
20.
Investigation of the origins of human autosomal inversions.
Hum Genet
; 123(6): 607-16, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18470537