Detalhe da pesquisa
1.
Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.
Am J Med Genet A;
: e63647, 2024 Jun 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38877820
2.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A;
194(1): 17-30, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37743782
3.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Am J Hum Genet;
104(5): 957-967, 2019 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31006512
4.
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
5.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat;
41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32196822
6.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med;
22(5): 857-866, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31949312
7.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med;
22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31949314
8.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med;
22(3): 538-546, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31723249
9.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med;
22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32047287
10.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet;
99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27545680
11.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med;
20(1): 98-108, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28661489
12.
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
Am J Med Genet A;
173(6): 1625-1630, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28462982
13.
Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature.
Am J Med Genet A;
173(6): 1673-1680, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28394407
14.
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
PLoS Genet;
10(5): e1004333, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24831815
15.
Three cases of Troyer syndrome in two families of Filipino descent.
Am J Med Genet A;
170(7): 1780-5, 2016 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27112432
16.
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.
Am J Med Genet A;
170(8): 2186-90, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27177193
17.
FTO variant associated with malformation syndrome.
Am J Med Genet A;
170A(4): 1023-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26697951
18.
Mutations in ARID2 are associated with intellectual disabilities.
Neurogenetics;
16(4): 307-14, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26238514
19.
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.
Am J Med Genet A;
167A(4): 695-700, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25735893
20.
Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.
Am J Med Genet A;
167A(4): 826-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25758335