Detalhe da pesquisa
1.
REEV: review, evaluate and explain variants.
Nucleic Acids Res
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769069
2.
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.
Am J Med Genet A
; : e63641, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725242
3.
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
Proc Natl Acad Sci U S A
; 118(2)2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402532
4.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
5.
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Hum Mutat
; 43(11): 1659-1665, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104871
6.
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Am J Hum Genet
; 105(2): 395-402, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353022
7.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
8.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179230
9.
VarFish: comprehensive DNA variant analysis for diagnostics and research.
Nucleic Acids Res
; 48(W1): W162-W169, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338743
10.
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
Clin Genet
; 98(5): 468-476, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32725661
11.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
12.
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Genet Med
; 21(10): 2216-2223, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976099
13.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752
14.
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
Hum Mutat
; 38(10): 1394-1401, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28581210
15.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Am J Hum Genet
; 95(6): 763-70, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480037
16.
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between PIGV and MPL.
Haematologica
; 107(8): 1989-1993, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35081686
17.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Hum Mutat
; 37(8): 737-44, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120253
18.
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
Am J Med Genet A
; 170(3): 615-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581570
19.
Crowdsourced direct-to-consumer genomic analysis of a family quartet.
BMC Genomics
; 16: 910, 2015 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26547235
20.
Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.
Genes (Basel)
; 15(5)2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790248