PMC Articles for MedGen (Select 371416) - PMC

Select item 54228681.

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon

BMC Med Genet. 2017; 18: 52. Published online 2017 May 8. doi: 10.1186/s12881-017-0414-7

PMCID:: PMC5422868

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Select item 58399892.

Mutation Update of Transcription Factor Genes FOXE3, HSF4, MAF and PITX3 Causing Cataracts and Other Developmental Ocular Defects

Deepti Anand, Smriti A. Agrawal, Anne Slavotinek, Salil A. Lachke

Hum Mutat. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Hum Mutat. 2018 Apr; 39(4): 471–494. Published online 2018 Jan 16. doi: 10.1002/humu.23395

PMCID:: PMC5839989

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Select item 45705523.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria T. Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim Keppler-Noreuil, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan H.L. Lee, Celio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol-Church, Marco Tartaglia

Am J Hum Genet. 2015 May 7; 96(5): 816–825. doi: 10.1016/j.ajhg.2015.03.001

PMCID:: PMC4570552

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Select item 86495864.

Characteristics and outcomes of glomerulonephritis with membranoproliferative pattern in children

Linan Xu, Fengfang Wei, Jiayan Feng, Jiaojiao Liu, Jialu Liu, Xiaoshan Tang, Xiaoyan Fang, Jing Chen, Yihui Zhai, Haimei Liu, Li Sun, Yanyan Qian, Bingbing Wu, Huijun Wang, Qian Shen, Jia Rao, Hong Xu

Transl Pediatr. 2021 Nov; 10(11): 2985–2996. doi: 10.21037/tp-21-286

PMCID:: PMC8649586

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Select item 82542645.

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho, Beom Hee Lee

BMC Med Genomics. 2021; 14: 177. Published online 2021 Jul 3. doi: 10.1186/s12920-021-01026-6

PMCID:: PMC8254264

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