Detalles de la búsqueda
1.
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Mol Genet Metab
; 141(2): 108119, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38184429
2.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37517035
3.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med
; 24(10): 2194-2203, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36001086
4.
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
Clin Genet
; 101(4): 403-410, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34988996
5.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29656859
6.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33531666
7.
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Clin Genet
; 100(5): 573-600, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34374989
8.
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
Am J Hum Genet
; 100(5): 824-830, 2017 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28434495
9.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med
; 21(12): 2755-2764, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31263215
10.
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
J Med Genet
; 55(2): 122-130, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29122926
11.
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
BMC Med Genet
; 19(1): 34, 2018 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29499638
12.
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
Am J Med Genet A
; 176(9): 1996-2003, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30055085
13.
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Am J Med Genet A
; 173(5): 1257-1263, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28322503
14.
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Am J Med Genet A
; 173(2): 460-470, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-27860360
15.
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
Am J Med Genet A
; 170A(1): 156-61, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26395437
16.
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
Hum Mutat
; 36(1): 34-8, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25339201
17.
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Eur J Pediatr
; 174(5): 661-8, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25388407
18.
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Metab Brain Dis
; 30(3): 687-94, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25227173
19.
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
Childs Nerv Syst
; 30(7): 1183-9, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24413922
20.
A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.
Clin Genet
; 94(6): 586-587, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30308082