Detalhe da pesquisa
1.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Cell
; 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38821050
2.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Cell
; 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38870945
3.
Leveraging European infrastructures to access 1 million human genomes by 2022.
Nat Rev Genet
; 20(11): 693-701, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455890
4.
Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.
Nat Rev Genet
; 20(11): 702, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520075
5.
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
6.
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
7.
Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.
J Assist Reprod Genet
; 41(2): 451-464, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38175314
8.
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
Hum Genet
; 141(7): 1279-1286, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182234
9.
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
J Clin Lab Anal
; 36(5): e24398, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35405024
10.
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.
J Clin Lab Anal
; 36(8): e24593, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819088
11.
Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).
J Genet Couns
; 31(5): 1043-1053, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385167
12.
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
13.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
J Pediatr
; 231: 148-156, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340551
14.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Cerebellum
; 20(4): 596-605, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619652
15.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Am J Hum Genet
; 100(5): 695-705, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475856
16.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet
; 98(2): 310-21, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833332
17.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Genet Med
; 21(5): 1181-1188, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293989
18.
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.
Hum Mol Genet
; 25(8): 1489-500, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008884
19.
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 20(9): 1098, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300369
20.
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.
Electrophoresis
; 39(24): 3133-3141, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29947113