Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Genet Med
; 26(4): 101039, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054409
3.
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Mol Genet Metab
; 141(3): 108112, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301530
4.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
5.
Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency.
Int J Mol Sci
; 25(3)2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38338665
6.
The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy.
Genet Med
; 25(7): 100847, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061875
7.
Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT).
Genet Med
; 25(8): 100864, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120725
8.
A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome).
Genet Med
; 24(6): 1274-1282, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341653
9.
The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood.
Genet Med
; 23(6): 1017-1022, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33627828
10.
Neurocognitive development and capabilities in boys with 49,XXXXY syndrome.
Am J Med Genet A
; 185(12): 3541-3546, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32662248
11.
Speech and language development in children with 49,XXXXY syndrome.
Am J Med Genet A
; 185(12): 3567-3575, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32725750
12.
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Hum Mutat
; 41(5): 946-960, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943503
13.
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Mol Genet Metab
; 131(4): 390-397, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288448
14.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018246
15.
Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness.
Am J Med Genet A
; 182(5): 974-986, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083381
16.
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Am J Med Genet A
; 182(5): 1278-1283, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32150337
17.
A review of the intriguing interaction between testosterone and neurocognitive development in males with 47,XXY.
Curr Opin Obstet Gynecol
; 32(2): 140-146, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004174
18.
Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs).
Prenat Diagn
; 40(4): 470-480, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31661555
19.
Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).
Am J Med Genet A
; 179(12): 2374-2381, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577063
20.
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Mol Genet Metab
; 125(3): 235-240, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30197275