Detalhe da pesquisa
1.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194938
2.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Cardiol Young
; 32(3): 364-373, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420548
3.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
4.
Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child.
J Pediatr Hematol Oncol
; 42(2): e114-e116, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30789458
5.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
6.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086307
7.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565424
8.
Vitamin-Dependent Genetic Disorders of Childhood.
Pediatr Rev
; 44(11): 618-631, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907415
9.
Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med
; 380(25): 2478-2480, 2019 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216405
10.
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Am J Med Genet A
; 173(2): 460-470, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27860360
11.
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Hum Mutat
; 36(11): 1048-51, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264460
12.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(4): 689, 2017 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28388435
13.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Mol Genet Metab
; 116(3): 139-45, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385305
14.
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
J Med Genet
; 48(12): 840-50, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984752
15.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
J Neuromuscul Dis
; 9(6): 713-730, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214004
16.
Detection of clinically relevant exonic copy-number changes by array CGH.
Hum Mutat
; 31(12): 1326-42, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20848651
17.
Nonleaking cystoid macular edema in Cohen syndrome.
J AAPOS
; 23(1): 38-39.e1, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30144585
18.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 12, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819258
19.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 16, 2019 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30909959
20.
DYNAMIC RETINA VESSEL COLOR CHANGE DURING OCULAR COMPRESSION IN SEVERE LIPEMIA RETINALIS.
Retin Cases Brief Rep
; 12 Suppl 1: S98-S101, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283911