Detalhe da pesquisa
1.
Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.
Epilepsia
; 64(8): 2126-2136, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37177976
2.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(2): 413-424, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327508
3.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
4.
Transient developmental delays in infants with Duarte-2 variant galactosemia.
Mol Genet Metab
; 134(1-2): 132-138, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34391645
5.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31780822
6.
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
Am J Med Genet A
; 182(4): 780-784, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022391
7.
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Mol Genet Metab
; 126(4): 368-376, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30718057
8.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(3): 672-674, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491411
9.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis
; 40(2): 171-176, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858262
10.
BRAT1 mutations present with a spectrum of clinical severity.
Am J Med Genet A
; 170(9): 2265-73, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27282546
11.
The male reproductive system in classic galactosemia: cryptorchidism and low semen volume.
J Inherit Metab Dis
; 36(5): 779-86, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23053469
12.
Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion.
J Inherit Metab Dis
; 36(1): 29-34, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22729817
13.
The adult galactosemic phenotype.
J Inherit Metab Dis
; 35(2): 279-86, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779791
14.
Psychosocial developmental milestones in men with classic galactosemia.
J Inherit Metab Dis
; 34(2): 415-9, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21350966
15.
Ovarian function in girls and women with GALT-deficiency galactosemia.
J Inherit Metab Dis
; 34(2): 357-66, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20978943
16.
FSH isoform pattern in classic galactosemia.
J Inherit Metab Dis
; 34(2): 387-90, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20814826
17.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
; 9(10): e1809, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519438
18.
Infant mortality: the contribution of genetic disorders.
J Perinatol
; 39(12): 1611-1619, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395954
19.
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Eur J Hum Genet
; 27(9): 1398-1405, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30979967
20.
Fertility and impact of pregnancies on the mother and child in classic galactosemia.
Obstet Gynecol Surv
; 63(5): 334-43, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18419833