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6. 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]
7. SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. Li X; Cheng Q; Li N; Chang G; Ding Y; Li J; Shen Y; Wang J; Wang X Fetal Pediatr Pathol; 2018 Dec; 37(6):404-410. PubMed ID: 30592236 [TBL] [Abstract][Full Text] [Related]
9. Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. Lacassie Y; Johnson B; Lay-Son G; Quintana R; King A; Cortes F; Alvarez C; Gomez R; Vargas A; Chalew S; King A; Guardia S; Sorensen RU; Aradhya S Am J Med Genet A; 2020 Jul; 182(7):1767-1775. PubMed ID: 32297715 [TBL] [Abstract][Full Text] [Related]
10. Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. Park JW; Lee SJ J AAPOS; 2021 Aug; 25(4):257-259.e2. PubMed ID: 28115293 [TBL] [Abstract][Full Text] [Related]
11. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. Maksimova N; Hara K; Nikolaeva I; Chun-Feng T; Usui T; Takagi M; Nishihira Y; Miyashita A; Fujiwara H; Oyama T; Nogovicina A; Sukhomyasova A; Potapova S; Kuwano R; Takahashi H; Nishizawa M; Onodera O J Med Genet; 2010 Aug; 47(8):538-48. PubMed ID: 20577004 [TBL] [Abstract][Full Text] [Related]
12. [Liver transplantation for the treatment of acute liver failure in 3 cases with NBAS gene deficiency and literature review]. Li ZD; Li YC; Shen CH; Wang JS; Xie XB Zhonghua Er Ke Za Zhi; 2023 Jan; 61(1):66-69. PubMed ID: 36594124 [No Abstract] [Full Text] [Related]
13. Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype. Priglinger CS; Rudolph G; Schmid I; Mazzola P; Haack TB; Reith M; Stingl K; Weisschuh N Mol Genet Genomic Med; 2023 Mar; 11(3):e2120. PubMed ID: 36479642 [TBL] [Abstract][Full Text] [Related]
14. Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study. Li JQ; Qiu YL; Gong JY; Dou LM; Lu Y; Knisely AS; Zhang MH; Luan WS; Wang JS BMC Gastroenterol; 2017 Jun; 17(1):77. PubMed ID: 28629372 [TBL] [Abstract][Full Text] [Related]
15. Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Balasubramanian M; Hurst J; Brown S; Bishop NJ; Arundel P; DeVile C; Pollitt RC; Crooks L; Longman D; Caceres JF; Shackley F; Connolly S; Payne JH; Offiah AC; Hughes D; ; Parker MJ; Hide W; Skerry TM Bone; 2017 Jan; 94():65-74. PubMed ID: 27789416 [TBL] [Abstract][Full Text] [Related]
16. [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]
18. Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation. Geem D; Jiang W; Rytting HB; Chandrakasan S; Salem A; Stevens JP; Karpen SJ; Magliocca JF; Romero R; Rodriguez DS Pediatr Transplant; 2021 Nov; 25(7):e14084. PubMed ID: 34288298 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic]. Maksimova NR; Nogovicina AN; Kurtanov KA; Alekseeva EI Genetika; 2016 Oct; 52(10):1194-201. PubMed ID: 29369590 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]