Detalhe da pesquisa
1.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Hum Mutat
; 36(11): 1080-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173643
2.
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.
Am J Med Genet A
; 167A(4): 837-41, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25735987
3.
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Hum Mutat
; 35(9): 1092-100, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24924640
4.
[Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome]. / Mutagenní vliv vyssího veku otcu u neurokardiofaciokutánního syndromu.
Cas Lek Cesk
; 153(5): 242-5, 2014.
Artigo
em Tcheco
| MEDLINE | ID: mdl-25370770
5.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Hum Mutat
; 34(5): 686-96, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420520
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.
[Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer]. / Heterozygotie slovanské mutace 657del5 NBN genu u pacientu s kolorektálním karcinomem.
Cas Lek Cesk
; 150(2): 97-9, 2011.
Artigo
em Tcheco
| MEDLINE | ID: mdl-21560448
8.
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.
Aging (Albany NY)
; 12(12): 12342-12375, 2020 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32564008
9.
Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.
Pediatr Nephrol
; 24(7): 1409-12, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19011905
10.
Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
Eur J Cell Biol
; 87(2): 111-21, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17977616
11.
Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay.
Environ Mol Mutagen
; 47(4): 260-70, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16470524
12.
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
PLoS One
; 11(12): e0167984, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27936167
13.
Childhood overgrowth in patients with common NF1 microdeletions.
Eur J Hum Genet
; 13(7): 883-8, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15856072
14.
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Diabetes
; 52(6): 1573-8, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12765973
15.
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
Pediatr Nephrol
; 25(11): 2375-6, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20607301
16.
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Eur J Hum Genet
; 23(2): 256-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781758
17.
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Sci Rep
; 5: 11649, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130459
18.
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
Pediatr Neurol
; 30(3): 195-200, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15033202
19.
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
Clin Dysmorphol
; 17(3): 181-185, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18541964
20.
A mutation in the c-fos gene associated with congenital generalized lipodystrophy.
Orphanet J Rare Dis
; 8: 119, 2013 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23919306