Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
2.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772379
3.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
4.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685873
5.
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.
Am J Med Genet C Semin Med Genet
; 193(2): 160-166, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734411
6.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Hum Genet
; 142(8): 1055-1076, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37199746
7.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224108
8.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
9.
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
J Clin Immunol
; 42(2): 299-311, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718934
10.
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clin Genet
; 102(1): 12-21, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396703
11.
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Int J Mol Sci
; 23(23)2022 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498982
12.
Urinary free cortisol and childhood maltreatments in eating disorder patients: New evidence for an ecophenotype subgroup.
Eur Eat Disord Rev
; 30(4): 364-372, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35274398
13.
Time evaluation and its accuracy in eating disorders: differences in relation to interoceptive awareness.
Eat Weight Disord
; 27(7): 2551-2560, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35410413
14.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int J Mol Sci
; 22(11)2021 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199759
15.
Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain.
Eat Weight Disord
; 26(7): 2251-2262, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315213
16.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Neurobiol Dis
; 124: 14-28, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389403
17.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Am J Hum Genet
; 95(2): 209-17, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065913
18.
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
Br J Haematol
; 172(5): 782-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763766
19.
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Am J Med Genet A
; 170(7): 1772-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108886
20.
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Am J Med Genet B Neuropsychiatr Genet
; 171B(2): 290-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26620927