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1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38181735
2.
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Prenat Diagn
; 44(3): 352-356, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38342957
3.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586840
4.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38459409
5.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35851598
6.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35141892
7.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38723631
8.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38508193
9.
Elevated Mood States in Patients With Parkinson's Disease Treated With Deep Brain Stimulation: Diagnosis and Management Strategies.
J Neuropsychiatry Clin Neurosci
; 33(4): 314-320, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34213980
10.
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Hum Genet
; 139(4): 461-472, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31980905
11.
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Hum Genet
; 139(11): 1381-1390, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32399599
12.
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Am J Med Genet A
; 179(9): 1756-1763, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31241255
13.
Effect of subthalamic nucleus deep brain stimulation on dual-task cognitive and motor performance in isolated dystonia.
J Neurol Neurosurg Psychiatry
; 86(4): 404-9, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25012202
14.
Rivastigmine is associated with restoration of left frontal brain activity in Parkinson's disease.
Mov Disord
; 28(10): 1384-90, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23847120
15.
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Front Genet
; 14: 1122985, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37152996
16.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Eur J Med Genet
; 66(10): 104841, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37714374
17.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37034625
18.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37035737
19.
C-reactive protein is related to memory and medial temporal brain volume in older adults.
Brain Behav Immun
; 26(1): 103-8, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21843630
20.
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Front Mol Neurosci
; 15: 979061, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36277487