Detalles de la búsqueda
1.
Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.
Allergol Immunopathol (Madr)
; 50(6): 32-46, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36335443
2.
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses.
Hum Genomics
; 14(1): 45, 2020 12 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33287903
3.
Genetic Profiles and Three-year Follow-up Study of Chinese Males With Congenital Hypogonadotropic Hypogonadism.
J Sex Med
; 18(9): 1500-1510, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34348883
4.
Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.
J Cell Mol Med
; 24(2): 1286-1299, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31901151
5.
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.
J Cell Mol Med
; 24(2): 1906-1916, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31840411
6.
Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia.
Pediatr Cardiol
; 41(8): 1783-1794, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32939586
7.
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
J Cell Mol Med
; 23(2): 811-818, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30450679
8.
Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma.
Exp Dermatol
; 24(2): 152-5, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25429721
9.
Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1.
Appl Clin Genet
; 17: 71-84, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38835974
10.
Identification and functional characterization of a novel heterozygous splicesite mutation in the calpain 3 gene causes rare autosomal dominant limbgirdle muscular dystrophy.
Exp Ther Med
; 27(3): 97, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38356676
11.
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.
MedComm (2020)
; 5(4): e469, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38525108
12.
Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.
Clin Chim Acta
; 532: 115-122, 2022 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35679912
13.
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.
Hum Mutat
; 32(12): 1335-40, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21901790
14.
Comparative analysis of clonal evolution among patients with right- and left-sided colon and rectal cancer.
iScience
; 24(7): 102718, 2021 Jul 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-34258553
15.
Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family.
Front Genet
; 10: 1, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30804975
16.
Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.
Oncol Lett
; 17(3): 3350-3354, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30867769
17.
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Mol Genet Genomic Med
; 7(7): e00748, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31165590
18.
Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism.
Chin Med J (Engl)
; 136(21): 2635-2637, 2023 11 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36805600
19.
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.
Front Genet
; 9: 129, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29731767
20.
Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.
Oncol Lett
; 16(3): 3913-3916, 2018 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30128007