Detalhe da pesquisa
1.
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
J Clin Immunol
; 42(3): 559-571, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000057
2.
Battle of the Sex Chromosomes: Competition between X and Y Chromosome-Encoded Proteins for Partner Interaction and Chromatin Occupancy Drives Multicopy Gene Expression and Evolution in Muroid Rodents.
Mol Biol Evol
; 37(12): 3453-3468, 2020 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32658962
3.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100091
4.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rß1 Deficiency.
J Clin Immunol
; 38(5): 617-627, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29995221
5.
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.
J Med Genet
; 54(5): 324-329, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069933
6.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28566479
7.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439109
8.
Antitumour activity of an inhibitor of miR-34a in liver cancer with ß-catenin-mutations.
Gut
; 65(6): 1024-34, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25792709
9.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet
; 93(6): 1118-25, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268655
10.
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
iScience
; 26(7): 107171, 2023 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37456840
11.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
J Med Genet
; 48(7): 497-504, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21490379
12.
Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
Nat Commun
; 13(1): 3507, 2022 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717442
13.
Somatic genetic rescue of a germline ribosome assembly defect.
Nat Commun
; 12(1): 5044, 2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413298
14.
Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.
Hum Mol Genet
; 17(16): 2541-51, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18492799
15.
Evaluating diagnostic accuracy of genetic profiles in affected offspring families.
Stat Med
; 29(22): 2359-68, 2010 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20623818
16.
Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta.
BMC Genet
; 10: 16, 2009 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19331686
17.
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.
Cell Discov
; 4: 61, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30455981
18.
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
EMBO Mol Med
; 10(12)2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446499
19.
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
BMC Med Genet
; 8: 74, 2007 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18053270
20.
SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation.
Cell Death Differ
; 24(6): 1029-1044, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475176