Detalles de la búsqueda
1.
DNA Damage Signaling Instructs Polyploid Macrophage Fate in Granulomas.
Cell
; 167(5): 1264-1280.e18, 2016 11 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-28084216
2.
DNA Damage Signaling Instructs Polyploid Macrophage Fate in Granulomas.
Cell
; 174(5): 1325-1326, 2018 08 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-30142346
3.
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Hum Genomics
; 18(1): 23, 2024 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38448978
4.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34010604
5.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33308444
6.
Lipid droplets in mammalian eggs are utilized during embryonic diapause.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33649221
7.
Cereblon enhancer methylation and IMiD resistance in multiple myeloma.
Blood
; 138(18): 1721-1726, 2021 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34115836
8.
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Hum Mutat
; 43(10): 1472-1489, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35815345
9.
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Hum Genet
; 141(3-4): 785-803, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34148116
10.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31761294
11.
Targeted Methylation Profiling of Single Laser-Capture Microdissected Post-Mortem Brain Cells by Adapted Limiting Dilution Bisulfite Pyrosequencing (LDBSP).
Int J Mol Sci
; 23(24)2022 Dec 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36555213
12.
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Hum Genet
; 140(6): 915-931, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33496845
13.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med
; 23(10): 1933-1943, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34172899
14.
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
Int J Mol Sci
; 21(1)2020 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31906439
15.
Genome-wide DNA methylation analysis of colorectal adenomas with and without recurrence reveals an association between cytosine-phosphate-guanine methylation and histological subtypes.
Genes Chromosomes Cancer
; 58(11): 783-797, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31334584
16.
Epigenetic dysregulation of protocadherins in human disease.
Semin Cell Dev Biol
; 69: 172-182, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28694114
17.
The DNA methylation profile of human spermatogonia at single-cell- and single-allele-resolution refutes its role in spermatogonial stem cell function and germ cell differentiation.
Mol Hum Reprod
; 25(6): 283-294, 2019 06 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30892608
18.
Genetic and epigenetic changes in clonal descendants of irradiated human fibroblasts.
Exp Cell Res
; 370(2): 322-332, 2018 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29964050
19.
Cell Type and Species-specific Patterns in Neuronal and Non-neuronal Methylomes of Human and Chimpanzee Cortices.
Cereb Cortex
; 28(10): 3724-3739, 2018 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30085031
20.
Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
Int J Cancer
; 143(6): 1416-1425, 2018 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29659014