PMC Articles for MedGen (Select 482674) - PMC

Links from MedGen

Items: 1 to 20 of 28

<< First< Prev

Page of 2

Select item 103799681.

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D’Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano

Genes (Basel) 2023 Jul; 14(7): 1444. Published online 2023 Jul 14. doi: 10.3390/genes14071444

PMCID:: PMC10379968

Abstract Article PDF–2.5M

Select item 102351732.

The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

Robyn Whitney, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Hassan Kiani, Mark Tarnopolsky, Brandon Meaney

Epilepsia Open. 2023 Jun; 8(2): 623–632. Published online 2023 Apr 24. doi: 10.1002/epi4.12747

PMCID:: PMC10235173

Abstract Article PDF–2.2M

Select item 99562533.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders

Pitcha Chompoopong, Margherita Milone

Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372

PMCID:: PMC9956253

Abstract Article PDF–10M

Select item 94488934.

Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations

Sultan Cingoz, Didem Soydemir, Tülay Oncü Oner, Ezgi Karaca, Burcu Ozden, Semra Hız Kurul, Erhan Bayram, University of Washington Center for Mendelian Genomics, Bradley P. Coe, Deborah A. Nickerson, Evan E. Eichler

Eur J Med Genet. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104497. Published online 2022 Apr 14. doi: 10.1016/j.ejmg.2022.104497

PMCID:: PMC9448893

Abstract Article PDF–1.4M

Select item 85357455.

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon

Genes (Basel) 2021 Oct; 12(10): 1583. Published online 2021 Oct 7. doi: 10.3390/genes12101583

PMCID:: PMC8535745

Abstract Article PDF–4.4M

Select item 83850736.

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Maha S. Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B. Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G. Gleeson, Reza Maroofian

Eur J Hum Genet. 2021 Aug; 29(8): 1226–1234. Published online 2021 Jun 24. doi: 10.1038/s41431-021-00910-0

PMCID:: PMC8385073

Abstract Article PDF–3.0M

Select item 77675387.

Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree

Songyang Sun, Lin Chen, Yuchuan Wang, Jian Wang, Niu Li, Xike Wang

Mol Genet Genomic Med. 2020 Dec; 8(12): e1518. Published online 2020 Oct 1. doi: 10.1002/mgg3.1518

PMCID:: PMC7767538

Abstract Article PDF–817K

Select item 68651518.

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)

Muhammad Naveed, Syeda Khushbakht Kazmi, Mariyam Amin, Zainab Asif, Ushna Islam, Kinza Shahid, Sana Tehreem

Genet Res (Camb) 2018; 100: e7. Published online 2018 Aug 8. doi: 10.1017/S0016672318000046

PMCID:: PMC6865151

Abstract Article PDF–564K

Select item 68582989.

Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA

Himani Tanwar, D. Thirumal Kumar, C. George Priya Doss, Hatem Zayed

Metab Brain Dis. 2019; 34(6): 1577–1594. Published online 2019 Aug 5. doi: 10.1007/s11011-019-00465-6

PMCID:: PMC6858298

Abstract Article PDF–2.9M

Select item 648987110.

Novel West syndrome candidate genes in a Chinese cohort

Jing Peng, Ying Wang, Fang He, Chen Chen, Li‐Wen Wu, Li‐Fen Yang, Yu‐Ping Ma, Wen Zhang, Zi‐Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang

CNS Neurosci Ther. 2018 Dec; 24(12): 1196–1206. Published online 2018 Apr 17. doi: 10.1111/cns.12860

PMCID:: PMC6489871

Abstract Article PDF–1.0M

Select item 585948411.

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman

BMC Med Genet. 2018; 19: 46. Published online 2018 Mar 20. doi: 10.1186/s12881-018-0555-3

PMCID:: PMC5859484

Abstract Article PDF–432K

Select item 557421612.

Cereblon: A Protein Crucial to the Multiple Functions of Immunomodulatory Drugs as well as Cell Metabolism and Disease Generation

Qinglin Shi, Lijuan Chen

J Immunol Res. 2017; 2017: 9130608. Published online 2017 Aug 15. doi: 10.1155/2017/9130608

PMCID:: PMC5574216

Abstract Article PDF–770K

Select item 557151313.

TUSC3: a novel tumour suppressor gene and its functional implications

Xinshuang Yu, Chunjuan Zhai, Yujun Fan, Jiandong Zhang, Ning Liang, Fengjun Liu, Lili Cao, Jia Wang, Juan Du

J Cell Mol Med. 2017 Sep; 21(9): 1711–1718. Published online 2017 Mar 8. doi: 10.1111/jcmm.13128

PMCID:: PMC5571513

Abstract Article PDF–529K

Select item 556715214.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk

Eur J Hum Genet. 2017 Aug; 25(8): 966–972. Published online 2017 May 10. doi: 10.1038/ejhg.2017.85

PMCID:: PMC5567152

Abstract Article PDF–1.1M

Select item 551310715.

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi

BMC Med Genet. 2017; 18: 73. Published online 2017 Jul 17. doi: 10.1186/s12881-017-0417-4

PMCID:: PMC5513107

Abstract Article PDF–586K

Select item 550230616.

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family

Atia Sheereen, Manal Alaamery, Shahad Bawazeer, Yusra Al Yafee, Salam Massadeh, Wafaa Eyaid

J Med Genet. 2017 Apr; 54(4): 236–240. Published online 2017 Jan 31. doi: 10.1136/jmedgenet-2016-104117

PMCID:: PMC5502306

Abstract Article PDF–612K

Select item 538409617.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Teresa Santiago-Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari J. Tokita, Marcus Miller, Weimin Bi, Alicia A. Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L. Immken, Rebecca O. Littlejohn, Elizabeth Roeder, EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R. Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N. James, Jennifer L. Silhavy, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, John R. Seavitt, Mary E. Dickinson, M. Cecilia Ljungberg, Sara Wells, Sara J. Johnson, Lydia Teboul, Christine M. Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D. Heaney, Magdalena A. Walkiewicz

Am J Hum Genet. 2017 Apr 6; 100(4): 676–688. Published online 2017 Mar 23. doi: 10.1016/j.ajhg.2017.03.001

PMCID:: PMC5384096

Abstract Article PDF–1.8M

Select item 512277918.

Ohgata, the Single Drosophila Ortholog of Human Cereblon, Regulates Insulin Signaling-dependent Organismic Growth

Satoru Wakabayashi, Naoya Sawamura, André Voelzmann, Meike Broemer, Toru Asahi, Michael Hoch

J Biol Chem. 2016 Nov 25; 291(48): 25120–25132. Published online 2016 Oct 4. doi: 10.1074/jbc.M116.757823

PMCID:: PMC5122779

Abstract Article PDF–2.3M

Select item 379525519.

A Mental Retardation-linked Nonsense Mutation in Cereblon Is Rescued by Proteasome Inhibition

Guoqiang Xu, Xiaogang Jiang, Samie R. Jaffrey

J Biol Chem. 2013 Oct 11; 288(41): 29573–29585. Published online 2013 Aug 27. doi: 10.1074/jbc.M113.472092

PMCID:: PMC3795255

Abstract Article PDF–1.4M

Select item 372799220.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek

Orphanet J Rare Dis. 2013; 8: 110. Published online 2013 Jul 24. doi: 10.1186/1750-1172-8-110

PMCID:: PMC3727992

Abstract Article PDF–1.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 28

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity