PMC Articles for MedGen (Select 815981) - PMC

Select item 101598611.

Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F. Hoffmann, Siegmund Köhler, Christian Staufner

JIMD Rep. 2023 May; 64(3): 246–251. Published online 2023 Feb 15. doi: 10.1002/jmd2.12362

PMCID:: PMC10159861

Select item 57834662.

Targeted next-generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome-2

Jiao Wang, Zhongji Pu, Zhenhua Lu

Mol Med Rep. 2018 Feb; 17(2): 2245–2250. Published online 2017 Nov 29. doi: 10.3892/mmr.2017.8191

PMCID:: PMC5783466

Article PDF–1.8M

Select item 75078143.

Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report

Weiran Li, Yu Zhu, Qin Guo, Chaomin Wan

BMC Gastroenterol. 2020; 20: 308. Published online 2020 Sep 21. doi: 10.1186/s12876-020-01451-4

PMCID:: PMC7507814

Article PDF–519K

Select item 54703814.

Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children

Mohammed Y. Hasosah, Alaa I. Iskandarani, Ayman I. Shawli, Ashraf F. Alsahafi, Ghassan A. Sukkar, Mansour A. Qurashi

Saudi J Gastroenterol. 2017 May-Jun; 23(3): 206–208. doi: 10.4103/1319-3767.207714

PMCID:: PMC5470381

Article PDF–503K

Select item 104852415.

Acute infantile liver failure syndrome type 2 in a 2.5‐year‐old boy: A case report

Hosein Shabani‐Mirzaee, Fatemeh Sayarifard, Armen Malekiantaghi, Kambiz Eftekhari

Clin Case Rep. 2023 Sep; 11(9): e7892. Published online 2023 Sep 7. doi: 10.1002/ccr3.7892

PMCID:: PMC10485241

Article PDF–299K

Select item 86436166.

Natural Killer Cell Deficiency in Neuroblastoma Amplified Sequence Gene Mutation

Rawia F Albar, Enad F Alsulimani, Khalid A Alsalmi, Abdulrahman Alnamlah, Abdullah Alhuzali, Saif Aljehani

Cureus. 2021 Nov; 13(11): e19270. Published online 2021 Nov 5. doi: 10.7759/cureus.19270

PMCID:: PMC8643616

Article PDF–93K

Select item 69262197.

Mutation in the Neuroblastoma Amplified Sequence Gene as a Cause of Recurrent Acute Liver Failure, Acute Kidney Injury, and Status Epilepticus

Snehal Mallakmir, Aabha Nagral, Abhijit Bagde, Darius Mirza, Rashid Merchant, Vijay Yewale

J Clin Exp Hepatol. 2019 Nov-Dec; 9(6): 753–756. Published online 2019 Mar 27. doi: 10.1016/j.jceh.2019.03.008

PMCID:: PMC6926219

Article PDF–349K

Select item 67184608.

Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature

Silvia Ricci, Lorenzo Lodi, Daniele Serranti, Marco Moroni, Gilda Belli, Giorgia Mancano, Andrea La Barbera, Giulia Forzano, Giusi Mangone, Giuseppe Indolfi, Chiara Azzari

Front Immunol. 2019; 10: 1955. Published online 2019 Aug 27. doi: 10.3389/fimmu.2019.01955

PMCID:: PMC6718460

Article PDF–711K

Select item 63231229.

Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure

Sahoko Ono, Junko Matsuda, Etsuko Watanabe, Hiroto Akaike, Hideto Teranishi, Ippei Miyata, Takanobu Otomo, Yoshito Sadahira, Tatsuki Mizuochi, Hironori Kusano, Masayoshi Kage, Hiroo Ueno, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Hirokazu Kanegane, Kazunobu Ouchi

Hum Genome Var. 2019; 6: 2. Published online 2019 Jan 7. doi: 10.1038/s41439-018-0035-5

PMCID:: PMC6323122

Article PDF–2.1M

Select item 661252110.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

Margot A. Cousin, Erin Conboy, Jian-She Wang, Dominic Lenz, Tanya L. Schwab, Monique Williams, Roshini S. Abraham, Sarah Barnett, Mounif El-Youssef, Rondell P. Graham, Luz Helena Gutierrez Sanchez, Linda Hasadsri, Georg F. Hoffmann, Nathan C. Hull, Robert Kopajtich, Reka Kovacs-Nagy, Jia-qi Li, Daniela Marx-Berger, Valérie McLin, Mark A. McNiven, Taofic Mounajjed, Holger Prokisch, Daisy Rymen, Ryan J. Schulze, Christian Staufner, Ye Yang, Karl J. Clark, Brendan C. Lanpher, Eric W. Klee

Am J Hum Genet. 2019 Jul 3; 105(1): 108–121. Published online 2019 Jun 13. doi: 10.1016/j.ajhg.2019.05.011

PMCID:: PMC6612521

Article PDF–2.7M

Select item 598992711.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner

Genet Med. 2018; 20(10): 1255–1265. Published online 2018 Feb 8. doi: 10.1038/gim.2017.260

PMCID:: PMC5989927

Article PDF–4.4M

Select item 457257812.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch

Am J Hum Genet. 2015 Jul 2; 97(1): 163–169. doi: 10.1016/j.ajhg.2015.05.009

PMCID:: PMC4572578

Article PDF–778K

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