198 related articles for article (PubMed ID: 33565062)
1. [Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].
Sha Y; Li L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):123-126. PubMed ID: 33565062
[TBL] [Abstract][Full Text] [Related]
2. Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns.
Qin W; Wang H; Zhong W; Bai J; Qiao J; Lin Z
J Dermatol Sci; 2021 Oct; 104(1):48-54. PubMed ID: 34551863
[TBL] [Abstract][Full Text] [Related]
3. Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families.
Rahman OU; Kim J; Mahon C; Jelani M; Kang C
Genes Genomics; 2021 May; 43(5):471-478. PubMed ID: 33687658
[TBL] [Abstract][Full Text] [Related]
4. Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
Yang CF; Lin SP; Chiang CP; Wu YH; H'ng WS; Chang CP; Chen YT; Wu JY
Am J Hum Genet; 2018 Feb; 102(2):219-232. PubMed ID: 29336782
[TBL] [Abstract][Full Text] [Related]
5. A homozygous Y131X GPNMB mutation in a Chinese family with amyloidosis cutis dyschromica.
Wang X; Sun J
Int J Dermatol; 2022 Apr; 61(4):e118-e120. PubMed ID: 34628647
[No Abstract] [Full Text] [Related]
6. Three novel mutations in GPNMB in two pedigrees with amyloidosis cutis dyschromica.
Wang J; Li Y; Xing L; Zhao M; Zhang S; Li Z; Yao Z; Li M
Br J Dermatol; 2019 Dec; 181(6):1327-1329. PubMed ID: 31260093
[No Abstract] [Full Text] [Related]
7. [Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency].
Chen Y; Shi J; Huang X; Sheng A; Lu C; Zhu M; Wang Q; Wang M; Wang D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1233-1237. PubMed ID: 36317209
[TBL] [Abstract][Full Text] [Related]
8. [Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene].
Ji W; Lin S; Chen J; Jin C; Lin X; Ye Z; Qiu L; Qian D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):547-551. PubMed ID: 37102287
[TBL] [Abstract][Full Text] [Related]
9. [Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].
Xu G; Li J; Deng Z; Xia Y; Wang T; Bai Y; Qi Y; Zhou YA
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr; 40(4):419-422. PubMed ID: 36972935
[TBL] [Abstract][Full Text] [Related]
10. [Analysis of a Chinese pedigree affected with Hereditary FⅫ deficiency due to compound heterozygous variants of F12 gene].
Ye J; Li Y; Zhou J; Yang Y; Feng W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1241-1245. PubMed ID: 37730224
[TBL] [Abstract][Full Text] [Related]
11. [Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15].
Kang H; Zhao K; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):639-642. PubMed ID: 34247367
[TBL] [Abstract][Full Text] [Related]
12. Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.
Onoufriadis A; Hsu CK; Eide CR; Nanda A; Orchard GE; Tomita K; Sheriff A; Scott W; Tierney C; Lee JYW; Gomaa NS; Desomchoke R; Lwin SM; Tu WT; Chen LY; Huang HY; Chao SC; Yu-Yun Lee J; Bare Y; Hayday T; Guy AL; Liu L; Lees C; Hirdler T; Lovell P; Xia L; Dayrit JF; Calonje E; Simpson MA; Tolar J; Parsons M; McGrath JA
J Invest Dermatol; 2019 Dec; 139(12):2550-2554.e9. PubMed ID: 31226264
[No Abstract] [Full Text] [Related]
13. [Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F].
Kang H; Zhao K; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):951-954. PubMed ID: 34625930
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma].
Guo X; Zheng Q; Lin M; Zhang Y; Shi T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):549-552. PubMed ID: 34096023
[TBL] [Abstract][Full Text] [Related]
15. [Analysis of a Chinese pedigree affected with rare heart diseases due to variants of TNNI3 and TAZ genes].
Xu H; Hu R; Jiang X; Lei C; Huang Y; Wang P; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1246-1251. PubMed ID: 37730225
[TBL] [Abstract][Full Text] [Related]
16. [Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
Han R; Liu X; Ye E; Wu S; Zhao J; Duan L; Xia Y; Ding J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):374-377. PubMed ID: 35446969
[TBL] [Abstract][Full Text] [Related]
17. [Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene].
Zhu X; Cao P; Zhu Y; Li J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1517-1520. PubMed ID: 37994134
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ deficiency due to variant of F11 gene].
Wang H; Jiang S; Xia H; Yang L; Jin Y; Wang M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1319-1323. PubMed ID: 37906134
[TBL] [Abstract][Full Text] [Related]
19. [Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].
Yan L; Liu Y; Zhang Y; Tian L; Cao J; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):36-41. PubMed ID: 36584998
[TBL] [Abstract][Full Text] [Related]
20. [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with microphthalmia/coloboma and skeletal dysplasia syndrome due to variant of MAB21L2 gene].
Tang W; Bai Z; Jiang B; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):854-858. PubMed ID: 35929935
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
