Detalhe da pesquisa
1.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Hum Genet
; 141(11): 1785-1794, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35536377
2.
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
BMC Cancer
; 19(1): 787, 2019 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395037
3.
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Hum Mol Genet
; 20(13): 2585-90, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21498477
4.
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
PLoS Genet
; 6(3): e1000874, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20300641
5.
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nat Genet
; 35(2): 185-9, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14517542
6.
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
Cancer Rep (Hoboken)
; 6(2): e1700, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806726
7.
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Am J Hum Genet
; 84(5): 605-16, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19409520
8.
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics
; 12(4): 273-82, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21965147
9.
Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk.
Breast Cancer Res Treat
; 127(2): 549-54, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21046227
10.
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Hum Mutat
; 31(9): 1059-68, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20597108
11.
A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.
Breast Cancer Res Treat
; 121(3): 693-702, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19921425
12.
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
J Mol Med (Berl)
; 87(1): 31-41, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18802676
13.
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
Mol Vis
; 15: 476-81, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19262743
14.
Nijmegen Breakage Syndrome mutations and risk of breast cancer.
Int J Cancer
; 122(4): 802-6, 2008 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17957789
15.
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
Mol Vis
; 14: 1171-5, 2008 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-18587493
16.
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
Mol Vis
; 14: 323-6, 2008 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-18334946
17.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
J Child Neurol
; 23(2): 199-204, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18263757
18.
Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.
PLoS One
; 13(11): e0207315, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30440001
19.
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Hum Mutat
; 28(8): 808-15, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17431882
20.
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
Mol Vis
; 13: 1657-65, 2007 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17893674