Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
3.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
4.
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
Clin Genet
; 103(1): 45-52, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175384
5.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis
; 42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746764
6.
The role of the clinician in the multi-omics era: are you ready?
J Inherit Metab Dis
; 41(3): 571-582, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29362952
7.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
8.
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Clin Chem
; 61(5): 760-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759465
9.
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.
Neuropediatrics
; 46(6): 392-400, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26535877
10.
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
Hum Mutat
; 35(9): 1128-35, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24962355
11.
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
J Inherit Metab Dis
; 37(5): 715-33, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24789340
12.
Sulfate: a neglected (but potentially highly relevant) anion.
Essays Biochem
; 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38639060
13.
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
JIMD Rep
; 64(3): 217-222, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37151363
14.
SLC26A1 is a major determinant of sulfate homeostasis in humans.
J Clin Invest
; 133(3)2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719378
15.
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
J Inherit Metab Dis
; 35(1): 141-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556832
16.
A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
J Med Genet
; 47(4): 271-5, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19752158
17.
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.
Dev Cell
; 56(10): 1526-1540.e7, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964205
18.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Eur J Hum Genet
; 28(1): 40-49, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31488895
19.
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
Neurogenetics
; 9(3): 183-90, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18350323
20.
New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.
J Inherit Metab Dis
; 36(1): 155-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22968583