Detalles de la búsqueda
1.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
; 31(21): 3729-3740, 2022 10 28.
Artículo
Inglés
| MEDLINE | ID: mdl-35652444
2.
SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction.
Stem Cells
; 41(6): 560-569, 2023 06 15.
Artículo
Inglés
| MEDLINE | ID: mdl-36987811
3.
High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Int J Mol Sci
; 25(10)2024 May 17.
Artículo
Inglés
| MEDLINE | ID: mdl-38791509
4.
Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab.
N Engl J Med
; 382(24): 2337-2343, 2020 06 11.
Artículo
Inglés
| MEDLINE | ID: mdl-32521134
5.
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Development
; 147(21)2020 11 05.
Artículo
Inglés
| MEDLINE | ID: mdl-33033118
6.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Genet Med
; 25(6): 100833, 2023 06.
Artículo
Inglés
| MEDLINE | ID: mdl-37013900
7.
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.
J Med Genet
; 59(7): 719-722, 2022 07.
Artículo
Inglés
| MEDLINE | ID: mdl-34099539
8.
Ppp1r1b-lncRNA inhibits PRC2 at myogenic regulatory genes to promote cardiac and skeletal muscle development in mouse and human.
RNA
; 26(4): 481-491, 2020 04.
Artículo
Inglés
| MEDLINE | ID: mdl-31953255
9.
Dusp6 is a genetic modifier of growth through enhanced ERK activity.
Hum Mol Genet
; 28(2): 279-289, 2019 01 15.
Artículo
Inglés
| MEDLINE | ID: mdl-30289454
10.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Am J Hum Genet
; 103(6): 948-967, 2018 12 06.
Artículo
Inglés
| MEDLINE | ID: mdl-30526868
11.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artículo
Inglés
| MEDLINE | ID: mdl-30057031
12.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artículo
Inglés
| MEDLINE | ID: mdl-30304647
13.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Genet Med
; 23(8): 1465-1473, 2021 08.
Artículo
Inglés
| MEDLINE | ID: mdl-33833410
14.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Am J Med Genet A
; 185(4): 1076-1080, 2021 04.
Artículo
Inglés
| MEDLINE | ID: mdl-33438828
15.
Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
PLoS Genet
; 14(5): e1007392, 2018 05.
Artículo
Inglés
| MEDLINE | ID: mdl-29768410
16.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artículo
Inglés
| MEDLINE | ID: mdl-31692161
17.
Calpain 3 and CaMKIIß signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.
Hum Mol Genet
; 27(9): 1642-1653, 2018 05 01.
Artículo
Inglés
| MEDLINE | ID: mdl-29528394
18.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artículo
Inglés
| MEDLINE | ID: mdl-28132692
19.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Artículo
Inglés
| MEDLINE | ID: mdl-32814847
20.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artículo
Inglés
| MEDLINE | ID: mdl-31949314