Detalhe da pesquisa
1.
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Hum Mol Genet
; 31(15): 2571-2581, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262690
2.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
3.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
4.
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Proc Natl Acad Sci U S A
; 116(20): 9865-9870, 2019 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036665
5.
[11C]JNJ54173717, a novel P2X7 receptor radioligand as marker for neuroinflammation: human biodistribution, dosimetry, brain kinetic modelling and quantification of brain P2X7 receptors in patients with Parkinson's disease and healthy volunteers.
Eur J Nucl Med Mol Imaging
; 46(10): 2051-2064, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243495
6.
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Prenat Diagn
; 38(9): 654-663, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29966037
7.
Pseudoautosomal region 1 length polymorphism in the human population.
PLoS Genet
; 10(11): e1004578, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25375121
8.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382
9.
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
Am J Med Genet A
; 167A(8): 1822-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25931334
10.
Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11.
Genes (Basel)
; 15(1)2024 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38275609
11.
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.
bioRxiv
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562770
12.
SynTView - an interactive multi-view genome browser for next-generation comparative microorganism genomics.
BMC Bioinformatics
; 14: 277, 2013 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053737
13.
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.
Glycoconj J
; 30(1): 67-76, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22983704
14.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Eur J Hum Genet
; 30(9): 1017-1021, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577938
15.
Single nucleotide polymorphism discovery from expressed sequence tags in the waterflea Daphnia magna.
BMC Genomics
; 12: 309, 2011 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21668940
16.
SLC37A4-CDG: Second patient.
JIMD Rep
; 58(1): 122-128, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728255
17.
Acute Drug Effects on the Human Placental Tissue: The Development of a Placental Murine Xenograft Model.
Reprod Sci
; 25(12): 1637-1648, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29439620
18.
Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer. / Documento de consenso sobre la implementación de la secuenciación masiva de nueva generación en el diagnóstico genético de la predisposición hereditaria al cáncer.
Med Clin (Barc)
; 151(2): 80.e1-80.e10, 2018 07 23.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-29439875
19.
SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
Cold Spring Harb Mol Case Stud
; 3(4)2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28679690
20.
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.
Eur J Hum Genet
; 25(12): 1313-1323, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29255176