133 related articles for article (PubMed ID: 32205117)
1. Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
Lin Y; Zhang J; Li X; Zheng D; Yu X; Liu Y; Lan F; Wang Z
Clin Res Hepatol Gastroenterol; 2020 Oct; 44(5):e103-e108. PubMed ID: 32205117
[TBL] [Abstract][Full Text] [Related]
2. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T; Sambrotta M; Strautnieks S; Foskett P; Knisely AS; Wagner B; Deheragoda M; Starling C; Mieli-Vergani G; Smith J; ; Bull L; Thompson RJ
J Hepatol; 2016 Dec; 65(6):1179-1187. PubMed ID: 27469900
[TBL] [Abstract][Full Text] [Related]
3. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
Girard M; Bizet AA; Lachaux A; Gonzales E; Filhol E; Collardeau-Frachon S; Jeanpierre C; Henry C; Fabre M; Viremouneix L; Galmiche L; Debray D; Bole-Feysot C; Nitschke P; Pariente D; Guettier C; Lyonnet S; Heidet L; Bertholet A; Jacquemin E; Henrion-Caude A; Saunier S
Hum Mutat; 2016 Oct; 37(10):1025-9. PubMed ID: 27319779
[TBL] [Abstract][Full Text] [Related]
4. Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Syryn H; Hoorens A; Grammatikopoulos T; Deheragoda M; Symoens S; Vande Velde S; Van Biervliet S; Van Winckel M; Verloo P; Callewaert B; De Bruyne R
Clin Genet; 2021 Oct; 100(4):447-452. PubMed ID: 34155636
[TBL] [Abstract][Full Text] [Related]
5. [Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].
Li JQ; Lu Y; Qiu YL; Wang JS
Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):623-627. PubMed ID: 30078246
[No Abstract] [Full Text] [Related]
6. Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A; Sczakiel HL; Danyel M; Kohlmaier B; Mache CJ; Stalke A; Pfister ED; Thumfart J; Henning S; Knisely AS; Bufler P
Liver Int; 2023 May; 43(5):1089-1095. PubMed ID: 36938759
[TBL] [Abstract][Full Text] [Related]
7. Neonatal sclerosing cholangitis with novel mutations in
Wei X; Fang Y; Wang JS; Wang YZ; Zhang Y; Abuduxikuer K; Chen L
Front Pediatr; 2023; 11():1094895. PubMed ID: 36816379
[TBL] [Abstract][Full Text] [Related]
8. Doublecortin domain containing protein 2 (DCDC2) genetic variants in primary sclerosing cholangitis.
Cheung AC; Juran BD; Moore RM; LaRusso NF; Lazaridis KN
J Hepatol; 2017 Sep; 67(3):651-652. PubMed ID: 28461130
[No Abstract] [Full Text] [Related]
9. [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
Shi Y; Ding J; Liu JC; Wang H; Bu DF
Zhonghua Er Ke Za Zhi; 2005 Nov; 43(11):805-9. PubMed ID: 16316524
[TBL] [Abstract][Full Text] [Related]
10. Biallelic loss-of-function
Luan W; Hao CZ; Li JQ; Wei Q; Gong JY; Qiu YL; Lu Y; Shen CH; Xia Q; Xie XB; Zhang MH; Abuduxikuer K; Li ZD; Wang L; Xing QH; Knisely AS; Wang JS
J Med Genet; 2021 Aug; 58(8):514-525. PubMed ID: 32737136
[TBL] [Abstract][Full Text] [Related]
11. Reply to: "Doublecortin domain containing protein 2 (DCDC2) genetic variants in primary sclerosing cholangitis".
Grammatikopoulos T; Thompson RJ
J Hepatol; 2017 Sep; 67(3):652-653. PubMed ID: 28461131
[No Abstract] [Full Text] [Related]
12. Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.
Vogel GF; Maurer E; Entenmann A; Straub S; Knisely AS; Janecke AR; Müller T
Eur J Hum Genet; 2020 Jun; 28(6):840-844. PubMed ID: 32203204
[TBL] [Abstract][Full Text] [Related]
13. Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.
Luo H; Hassan RN; Yan J; Xie J; Du P; Hu Q; Zhu Y; Jiang W
Gene; 2019 Aug; 709():65-74. PubMed ID: 31129248
[TBL] [Abstract][Full Text] [Related]
14. [Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A].
Zhao Y; Meng YX; Guo YB; Du ML; Ai Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):241-6. PubMed ID: 21644215
[TBL] [Abstract][Full Text] [Related]
15. Identification of a Novel Nonsense Mutation in
Zou Y; Luo H; Yuan H; Xie K; Yang Y; Huang S; Yang B; Liu Y
Front Neurol; 2022; 13():904027. PubMed ID: 35873758
[TBL] [Abstract][Full Text] [Related]
16. Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q; Guo Y; Cao Y; Xiong W; Deng X; Xu H; Li Y; Du D; Deng H
Optom Vis Sci; 2018 Dec; 95(12):1155-1161. PubMed ID: 30451805
[TBL] [Abstract][Full Text] [Related]
17. Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL.
Li S; Chen Y; Shan H; Ma F; Shi M; Xue J
J Clin Neurosci; 2017 Dec; 46():85-89. PubMed ID: 28867359
[TBL] [Abstract][Full Text] [Related]
18. Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
Li L; Xiao X; Li S; Jiao X; Hejtmancik JF; Zhang Q
Mol Vis; 2011; 17():3326-32. PubMed ID: 22219627
[TBL] [Abstract][Full Text] [Related]
19. Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
Li X; Li L; Sun Y; Lv F; Zhang G; Liu W; Zhang M; Jiang H; Liu S
BMC Med Genet; 2019 Aug; 20(1):146. PubMed ID: 31455269
[TBL] [Abstract][Full Text] [Related]
20. More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.
Chen S; Zou JL; He S; Li W; Zhang JW; Li SJ
Brain Behav; 2021 Dec; 11(12):e32395. PubMed ID: 34734492
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
