Detalhe da pesquisa
1.
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.
Mov Disord
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436488
2.
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Am J Med Genet A
; 194(6): e63555, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38326731
3.
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
Neuropediatrics
; 55(2): 129-134, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365198
4.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788019
5.
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.
Am J Med Genet A
; 191(5): 1395-1400, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756855
6.
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
J Med Genet
; 59(8): 781-784, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353862
7.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675124
8.
Genotype-phenotype correlates in Joubert syndrome: A review.
Am J Med Genet C Semin Med Genet
; 190(1): 72-88, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238134
9.
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.
Am J Med Genet A
; 188(2): 635-641, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713961
10.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
; 144(5): 1542-1550, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969391
11.
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
Int J Mol Sci
; 22(8)2021 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33918046
12.
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 182(11): 2722-2726, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888391
13.
Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.
Pediatr Res
; 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514859
14.
Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.
Dev Med Child Neurol
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385764
15.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Hum Mutat
; 36(5): 562-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754594
16.
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
J Neurol Neurosurg Psychiatry
; 91(11): 1237-1238, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943585
17.
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
Brain Dev
; 45(3): 179-184, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446697
18.
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report.
J Pediatr Genet
; 12(3): 219-223, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575645
19.
3p26.3 terminal deletions: a challenge for prenatal genetic counseling.
Prenat Diagn
; 37(2): 197-200, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27933663
20.
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Am J Med Genet A
; 155A(4): 892-7, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416597