177 related articles for article (PubMed ID: 32146038)
21. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N; Lenz D; Baric I; Crushell E; Vici CD; Distelmaier F; Feillet F; Freisinger P; Hempel M; Khoreva AL; Laass MW; Lacassie Y; Lainka E; Larson-Nath C; Li Z; Lipiński P; Lurz E; Mégarbané A; Nobre S; Olivieri G; Peters B; Prontera P; Schlieben LD; Seroogy CM; Sobacchi C; Suzuki S; Tran C; Vockley J; Wang JS; Wagner M; Prokisch H; Garbade SF; Kölker S; Hoffmann GF; Staufner C
Mol Genet Metab; 2024 Mar; 141(3):108118. PubMed ID: 38244286
[TBL] [Abstract][Full Text] [Related]
22. Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.
Lenz D; Staufner C; Wächter S; Hagedorn M; Ebersold J; Göhring G; Kölker S; Hoffmann GF; Jung-Klawitter S
Stem Cell Res; 2019 May; 37():101428. PubMed ID: 30959346
[TBL] [Abstract][Full Text] [Related]
23. Case report: A novel cause of acute liver failure in children: A combination of human herpesvirus-6 infection and homozygous mutation in NBAS gene.
Cheng Y; Xia Z; Huang C; Xu H
J Clin Lab Anal; 2022 May; 36(5):e24343. PubMed ID: 35349761
[TBL] [Abstract][Full Text] [Related]
24. Mutation in the Neuroblastoma Amplified Sequence Gene as a Cause of Recurrent Acute Liver Failure, Acute Kidney Injury, and Status Epilepticus.
Mallakmir S; Nagral A; Bagde A; Mirza D; Merchant R; Yewale V
J Clin Exp Hepatol; 2019; 9(6):753-756. PubMed ID: 31889758
[TBL] [Abstract][Full Text] [Related]
25. Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (
Jiang B; Xiao F; Li X; Xiao Y; Wang Y; Zhang T
Front Pediatr; 2020; 8():607005. PubMed ID: 33520894
[TBL] [Abstract][Full Text] [Related]
26. Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.
Hegarty R; Gibson P; Sambrotta M; Strautnieks S; Foskett P; Ellard S; Baptista J; Lillis S; Bansal S; Vara R; Dhawan A; Grammatikopoulos T; Thompson RJ
J Pediatr; 2021 Sep; 236():124-130. PubMed ID: 34023347
[TBL] [Abstract][Full Text] [Related]
27. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG; Ballhausen D; Crawford H; Perreau M; Campos-Xavier B; van Spaendonck-Zwarts K; Vermeer C; Russo M; Zambelli PY; Stevenson B; Royer-Bertrand B; Rivolta C; Candotti F; Unger S; Munier FL; Superti-Furga A; Bonafé L
Am J Med Genet A; 2015 Dec; 167A(12):2902-12. PubMed ID: 26286438
[TBL] [Abstract][Full Text] [Related]
28. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Cousin MA; Conboy E; Wang JS; Lenz D; Schwab TL; Williams M; Abraham RS; Barnett S; El-Youssef M; Graham RP; Gutierrez Sanchez LH; Hasadsri L; Hoffmann GF; Hull NC; Kopajtich R; Kovacs-Nagy R; Li JQ; Marx-Berger D; McLin V; McNiven MA; Mounajjed T; Prokisch H; Rymen D; Schulze RJ; Staufner C; Yang Y; Clark KJ; Lanpher BC; Klee EW
Am J Hum Genet; 2019 Jul; 105(1):108-121. PubMed ID: 31204009
[TBL] [Abstract][Full Text] [Related]
29. Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21.
Isa HM; Alkaabi JF; Alhammadi WH; Marjan KA
Cureus; 2023 Mar; 15(3):e36249. PubMed ID: 37069859
[TBL] [Abstract][Full Text] [Related]
30. Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.
Hasosah MY; Iskandarani AI; Shawli AI; Alsahafi AF; Sukkar GA; Qurashi MA
Saudi J Gastroenterol; 2017; 23(3):206-208. PubMed ID: 28611345
[TBL] [Abstract][Full Text] [Related]
31. Liver involvement in neuroblastoma amplified sequence gene deficiency is not limited to acute injury: Fibrosis silently continues.
Nazmi F; Ozdogan E; Mungan NO; Arikan C
Liver Int; 2021 Oct; 41(10):2433-2439. PubMed ID: 34396667
[TBL] [Abstract][Full Text] [Related]
32. Novel neuroblastoma amplified sequence (
Ono S; Matsuda J; Watanabe E; Akaike H; Teranishi H; Miyata I; Otomo T; Sadahira Y; Mizuochi T; Kusano H; Kage M; Ueno H; Yoshida K; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Ogawa S; Hayashi Y; Kanegane H; Ouchi K
Hum Genome Var; 2019; 6():2. PubMed ID: 30622725
[TBL] [Abstract][Full Text] [Related]
33. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C; Peters B; Wagner M; Alameer S; Barić I; Broué P; Bulut D; Church JA; Crushell E; Dalgıç B; Das AM; Dick A; Dikow N; Dionisi-Vici C; Distelmaier F; Bozbulut NE; Feillet F; Gonzales E; Hadzic N; Hauck F; Hegarty R; Hempel M; Herget T; Klein C; Konstantopoulou V; Kopajtich R; Kuster A; Laass MW; Lainka E; Larson-Nath C; Leibner A; Lurz E; Mayr JA; McKiernan P; Mention K; Moog U; Mungan NO; Riedhammer KM; Santer R; Palafoll IV; Vockley J; Westphal DS; Wiedemann A; Wortmann SB; Diwan GD; Russell RB; Prokisch H; Garbade SF; Kölker S; Hoffmann GF; Lenz D
Genet Med; 2020 Mar; 22(3):610-621. PubMed ID: 31761904
[TBL] [Abstract][Full Text] [Related]
34. Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
Valencia CA; Wang X; Wang J; Peters A; Simmons JR; Moran MC; Mathur A; Husami A; Qian Y; Sheridan R; Bove KE; Witte D; Huang T; Miethke AG
PLoS One; 2016; 11(8):e0156738. PubMed ID: 27483465
[TBL] [Abstract][Full Text] [Related]
35. A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
Suzuki S; Kokumai T; Furuya A; Nagamori T; Matsuo K; Ueda O; Mukai T; Ito Y; Yano K; Fujieda K; Okuno A; Tanahashi Y; Azuma H
Eur J Med Genet; 2020 Nov; 63(11):104039. PubMed ID: 32805445
[TBL] [Abstract][Full Text] [Related]
36. Transplant-free Survival in Chronic Liver Disease Presenting as Acute Liver Failure in Childhood.
Di Giorgio A; Nicastro E; Dalla Rosa D; Nebbia G; Sonzogni A; D'Antiga L
Transplantation; 2019 Mar; 103(3):544-551. PubMed ID: 30028785
[TBL] [Abstract][Full Text] [Related]
37. NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.
Li ZD; Abuduxikuer K; Zhang J; Yang Y; Qiu YL; Huang Y; Xie XB; Lu Y; Wang JS
Hepatol Res; 2020 Nov; 50(11):1306-1315. PubMed ID: 32812336
[TBL] [Abstract][Full Text] [Related]
38. [Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review].
He TY; Zhang N; Xia Y; Luo Y; Li CR; Yang J
Zhonghua Er Ke Za Zhi; 2017 Dec; 55(12):942-946. PubMed ID: 29262476
[No Abstract] [Full Text] [Related]
39. A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.
Ji J; Yang M; Jia J; Wu Q; Cong R; Cui H; Zhu B; Chu X
Hum Genome Var; 2023 Apr; 10(1):13. PubMed ID: 37055399
[TBL] [Abstract][Full Text] [Related]
40. Recurrent acute liver failure associated with novel
Li JQ; Gong JY; Knisely AS; Zhang MH; Wang JS
World J Clin Cases; 2019 Feb; 7(4):494-499. PubMed ID: 30842961
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]