PMC Articles for MedGen (Select 1842983) - PMC

Select item 93565521.

Further delineation of SLC9A3‐related congenital sodium diarrhea

Ema Bogdanic, Thomas Müller, Peter Heinz‐Erian, Dorota Garczarczyk‐Asim, Andreas R. Janecke, Aline Rückel

Mol Genet Genomic Med. 2022 Aug; 10(8): e2000. Published online 2022 Jun 30. doi: 10.1002/mgg3.2000

PMCID:: PMC9356552

Abstract Article PDF–2.0M

Select item 81469382.

Stijn R. van de Plassche, Arjan P. M. de Brouwer

Genes (Basel) 2021 May; 12(5): 663. Published online 2021 Apr 28. doi: 10.3390/genes12050663

PMCID:: PMC8146938

Abstract Article PDF–2.4M

Select item 74973193.

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

Katharina M. C. Klee, Andreas R. Janecke, Hasret A. Civan, Štefan Rosipal, Peter Heinz-Erian, Lukas A. Huber, Thomas Müller, Georg F. Vogel

Hum Genet. 2020; 139(10): 1247–1259. Published online 2020 Apr 18. doi: 10.1007/s00439-020-02168-w

PMCID:: PMC7497319

Abstract Article PDF–2.3M

Select item 61239064.

NRG1 variant effects in patients with Hirschsprung disease

Gunadi, Nova Yuli Prasetyo Budi, Raman Sethi, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Taufik Indrawan, Kristy Iskandar, Akhmad Makhmudi, Indra Adrianto, Lai Poh San

BMC Pediatr. 2018; 18: 292. Published online 2018 Sep 4. doi: 10.1186/s12887-018-1265-x

PMCID:: PMC6123906

Abstract Article PDF–1011K

Select item 60458295.

Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population

Yong Wang, Qiuming He, Ruizhong Zhang, Wei Zhong, Deli Zhu, Yan Zhang, Huimin Xia

BMC Med Genet. 2018; 19: 116. Published online 2018 Jul 13. doi: 10.1186/s12881-018-0637-2

PMCID:: PMC6045829

Abstract Article PDF–558K

Select item 47952036.

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

Francis H Sansbury, Birgül Kirel, Richard Caswell, Hana Lango Allen, Sarah E Flanagan, Andrew T Hattersley, Sian Ellard, Charles J Shaw-Smith

Eur J Hum Genet. 2015 Dec; 23(12): 1744–1748. Published online 2015 Aug 12. doi: 10.1038/ejhg.2015.161

Correction in:: Eur J Hum Genet. 2015 Dec; 23(12): 1750.

PMCID:: PMC4795203

Abstract Article PDF–431K

Select item 46343717.

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

Andreas R. Janecke, Peter Heinz-Erian, Jianyi Yin, Britt-Sabina Petersen, Andre Franke, Silvia Lechner, Irene Fuchs, Serge Melancon, Holm H. Uhlig, Simon Travis, Evelyne Marinier, Vojislav Perisic, Nina Ristic, Patrick Gerner, Ian W. Booth, Satu Wedenoja, Nadja Baumgartner, Julia Vodopiutz, Marie-Christine Frechette-Duval, Jan De Lafollie, Rabindranath Persad, Neil Warner, C. Ming Tse, Karan Sud, Nicholas C. Zachos, Rafiquel Sarker, Xinjun Zhu, Aleixo M. Muise, Klaus-Peter Zimmer, Heiko Witt, Heinz Zoller, Mark Donowitz, Thomas Müller

Hum Mol Genet. 2015 Dec 1; 24(23): 6614–6623. Published online 2015 Sep 10. doi: 10.1093/hmg/ddv367

PMCID:: PMC4634371

Abstract Article PDF–539K

Select item 33497288.

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R. Marshall, Steve Scherer, Stacey S. Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló

PLoS Genet. 2012 May; 8(5): e1002687. Published online 2012 May 10. doi: 10.1371/journal.pgen.1002687

Correction in:: PLoS Genet. 2012 May; 8(5): 10.1371/annotation/0ffda9e0-ba27-40c1-b766-df58de9083d5.

PMCID:: PMC3349728

Abstract Article PDF–457K

Select item 26490109.

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

L de Pontual, A Pelet, D Trochet, F Jaubert, Y Espinosa‐Parrilla, A Munnich, J‐F Brunet, C Goridis, J Feingold, S Lyonnet, J Amiel

J Med Genet. 2006 May; 43(5): 419–423. Published online 2006 Jan 27. doi: 10.1136/jmg.2005.040113

PMCID:: PMC2649010

Abstract Article PDF–226K

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