Detalhe da pesquisa
1.
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Am J Med Genet A
; 191(9): 2274-2289, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387251
2.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am J Hum Genet
; 104(4): 749-757, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905398
3.
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Calcif Tissue Int
; 108(3): 288-301, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33191482
4.
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Hum Genet
; 139(4): 483-498, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055997
5.
Hot-spot KIF5A mutations cause familial ALS.
Brain
; 141(3): 688-697, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342275
6.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res
; 25(2): 155-66, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561519
7.
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Hum Mutat
; 36(11): 1070-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26172944
8.
Mutations in different components of FGF signaling in LADD syndrome.
Nat Genet
; 38(4): 414-7, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16501574
9.
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Nat Commun
; 11(1): 4589, 2020 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917887
10.
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
Hum Mol Genet
; 16(12): 1488-94, 2007 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17478476