Detalhe da pesquisa
1.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228333
2.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
3.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
PLoS Genet
; 13(3): e1006679, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301481
4.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet
; 55(11): 721-728, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049826
5.
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
J Allergy Clin Immunol
; 139(2): 634-642.e5, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27522155
6.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
7.
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.
Eur J Haematol
; 98(3): 218-227, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27743390
8.
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet
; 23(10): 2511-26, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24412933
9.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
J Med Genet
; 52(3): 147-56, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564561
10.
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Nat Genet
; 39(6): 727-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17468754
11.
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
J Clin Immunol
; 35(2): 147-57, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25663137
12.
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
J Med Genet
; 51(11): 748-55, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25194001
13.
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
J Med Genet
; 51(1): 61-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24203976
14.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Brain
; 136(Pt 10): 3096-105, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24022475
15.
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
J Med Genet
; 48(4): 273-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266384
16.
The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice.
J Allergy Clin Immunol
; 127(5): 1253-9.e13, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21458042
17.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(1): e254-e263, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402903
18.
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Blood
; 113(9): 1967-76, 2009 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-18981294
19.
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.
Nat Genet
; 39(4): 429-30, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17392797
20.
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Hum Genome Var
; 6: 35, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645973