PMC Articles for MedGen (Select 816595) - PMC

Select item 42661911.

Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice

Anna Kyunglim Park, Ryan P Liegel, Adam Ronchetti, Allison D Ebert, Aron Geurts, Duska J Sidjanin

BMC Genet. 2014; 15: 135. Published online 2014 Dec 5. doi: 10.1186/s12863-014-0135-2

PMCID:: PMC4266191

Select item 97777462.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome

Qiwei Wang, Tingfeng Qin, Xun Wang, Jing Li, Xiaoshan Lin, Dongni Wang, Zhuoling Lin, Xulin Zhang, Xiaoyan Li, Haotian Lin, Weirong Chen

Genes (Basel) 2022 Dec; 13(12): 2364. Published online 2022 Dec 14. doi: 10.3390/genes13122364

PMCID:: PMC9777746

Article PDF–1.0M

Select item 90375553.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Article PDF–2.0M

Select item 80803724.

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini, Daniel Auld, Masoud Garshasbi

BMC Neurol. 2021; 21: 180. Published online 2021 Apr 28. doi: 10.1186/s12883-021-02204-w

PMCID:: PMC8080372

Article PDF–5.1M

Select item 47515465.

A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

Michaela Wiedmer, Anna Oevermann, Stephanie E. Borer-Germann, Daniela Gorgas, G. Diane Shelton, Michaela Drögemüller, Vidhya Jagannathan, Diana Henke, Tosso Leeb

G3 (Bethesda) 2016 Feb; 6(2): 255–262. Published online 2015 Nov 23. doi: 10.1534/g3.115.022707

PMCID:: PMC4751546

Article PDF–1.7M

Select item 46325056.

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Mark T. Handley, Sarah M. Carpanini, Girish R. Mali, Duska J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David R. FitzPatrick

Open Biol. 2015 Jun; 5(6): 150047. Published online 2015 Jun 10. doi: 10.1098/rsob.150047

PMCID:: PMC4632505

Article PDF–1.2M

Select item 42247547.

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, Birgit Spors, Eva Klopocki, Christoph Hübner, Denise Horn, Angela M Kaindl

Orphanet J Rare Dis. 2014; 9: 113. Published online 2014 Oct 21. doi: 10.1186/s13023-014-0113-9

PMCID:: PMC4224754

Article PDF–860K

Select item 38529268.

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J. Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M.H. Abdel-Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, Duska J. Sidjanin

Am J Hum Genet. 2013 Dec 5; 93(6): 1001–1014. doi: 10.1016/j.ajhg.2013.10.011

PMCID:: PMC3852926

Article PDF–2.8M

Select item 30719209.

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, Frances F. Bond, Manju A. Kurian, Fatima Rahman, Mark T.W. Handley, Yavor Hadzhiev, Imran Masood, Ania A. Straatman-Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz S. Pasha, Gail A. Kirby, Katharine Foster, Zubair Ahmed, Jenny E. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Burglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis

Am J Hum Genet. 2011 Apr 8; 88(4): 499–507. doi: 10.1016/j.ajhg.2011.03.012

Correction in:: Am J Hum Genet. 2011 May 13; 88(5): 678.

PMCID:: PMC3071920

Article PDF–1.1M

Select item 142469610.

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

Irene A. Aligianis, Neil V. Morgan, Marina Mione, Colin A. Johnson, Elisabeth Rosser, Raoul C. Hennekam, Gill Adams, Richard C. Trembath, Daniela T. Pilz, Neil Stoodley, Anthony T. Moore, Steve Wilson, Eamonn R. Maher

Am J Hum Genet. 2006 Apr; 78(4): 702–707. Published online 2006 Feb 14. doi: 10.1086/502681

PMCID:: PMC1424696

Article PDF–2.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 10

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity