185 related articles for article (PubMed ID: 33707149)
1. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Cotrina-Vinagre FJ; Rodríguez-García ME; Martín-Hernández E; Durán-Aparicio C; Merino-López A; Medina-Benítez E; Martínez-Azorín F
Mol Genet Metab; 2021 Jun; 133(2):201-210. PubMed ID: 33707149
[TBL] [Abstract][Full Text] [Related]
2.
Balasubramanian M; Padidela R; Pollitt RC; Bishop NJ; Mughal MZ; Offiah AC; Wagner BE; McCaughey J; Stephens DJ
J Med Genet; 2018 Mar; 55(3):158-165. PubMed ID: 29263160
[TBL] [Abstract][Full Text] [Related]
3. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
Rauch F; Fahiminiya S; Majewski J; Carrot-Zhang J; Boudko S; Glorieux F; Mort JS; Bächinger HP; Moffatt P
Am J Hum Genet; 2015 Mar; 96(3):425-31. PubMed ID: 25683117
[TBL] [Abstract][Full Text] [Related]
4. Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.
Ouyang L; Yang F
Medicine (Baltimore); 2017 Dec; 96(52):e9504. PubMed ID: 29384951
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Cole-Carpenter syndrome in a patient from Thailand.
Porntaveetus T; Theerapanon T; Srichomthong C; Shotelersuk V
Am J Med Genet A; 2018 Aug; 176(8):1706-1710. PubMed ID: 30063094
[TBL] [Abstract][Full Text] [Related]
7. Novel compound heterozygous variants in the
Krishnan S; Rughani A; Tsai A; Palle S
BMJ Case Rep; 2021 Feb; 14(2):. PubMed ID: 33542026
[TBL] [Abstract][Full Text] [Related]
8. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Kortüm F; Marquardt I; Alawi M; Korenke GC; Spranger S; Meinecke P; Kutsche K
Pediatrics; 2017 Jan; 139(1):. PubMed ID: 28031453
[TBL] [Abstract][Full Text] [Related]
9. A novel missense mutation in
Li L; Zhao D; Zheng W; Wang O; Jiang Y; Xia W; Xing X; Li M
Biosci Rep; 2019 May; 39(4):. PubMed ID: 30948499
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
Takeyari S; Kubota T; Miyata K; Yamamoto K; Nakayama H; Yamamoto K; Ohata Y; Kitaoka T; Yanagi K; Kaname T; Ozono K
Am J Med Genet A; 2018 Dec; 176(12):2882-2886. PubMed ID: 30462379
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. [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]
18. 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]
19. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Staufner C; Haack TB; Köpke MG; Straub BK; Kölker S; Thiel C; Freisinger P; Baric I; McKiernan PJ; Dikow N; Harting I; Beisse F; Burgard P; Kotzaeridou U; Lenz D; Kühr J; Himbert U; Taylor RW; Distelmaier F; Vockley J; Ghaloul-Gonzalez L; Ozolek JA; Zschocke J; Kuster A; Dick A; Das AM; Wieland T; Terrile C; Strom TM; Meitinger T; Prokisch H; Hoffmann GF
J Inherit Metab Dis; 2016 Jan; 39(1):3-16. PubMed ID: 26541327
[TBL] [Abstract][Full Text] [Related]
20. NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Cao YJ; Zhang H; Zhang ZL
Endocr Pract; 2019 Mar; 25(3):230-241. PubMed ID: 30913006
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
