Detalhe da pesquisa
1.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
2.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
3.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585108
4.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
5.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
6.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
7.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30500825
8.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
; 22(5): 857-866, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949312
9.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820119
10.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
11.
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Am J Hum Genet
; 92(4): 632-6, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561849
12.
Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).
Biochem Genet
; 52(5-6): 225-32, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24504995
13.
Potential teratogenic effects of allopurinol: a case report.
Am J Med Genet A
; 155A(9): 2247-52, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21815259
14.
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532876
15.
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Orphanet J Rare Dis
; 15(1): 89, 2020 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276663
16.
Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.
J Child Neurol
; 34(12): 778-781, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31282308
17.
Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.
J Child Neurol
; 35(2): 176-177, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31684799
18.
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
Pediatr Neurol
; 53(6): 535-40, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26483087