PMC Articles for MedGen (Select 832995) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Next >Last >>

Select item 71192751.

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili, Mei Shiyue

BMC Med Genet. 2020; 21: 69. Published online 2020 Apr 3. doi: 10.1186/s12881-020-01004-2

PMCID:: PMC7119275

Abstract Article PDF–1.0M

Select item 47952042.

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

Elin Tønne, Rita Holdhus, Christine Stansberg, Asbjørg Stray-Pedersen, Kjell Petersen, Han G Brunner, Christian Gilissen, Alexander Hoischen, Trine Prescott, Vidar M Steen, Torunn Fiskerstrand

Eur J Hum Genet. 2015 Dec; 23(12): 1652–1656. Published online 2015 Mar 4. doi: 10.1038/ejhg.2015.30

PMCID:: PMC4795204

Abstract Article PDF–1.1M

Select item 53938783.

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Christina Grau, Molly Starkovich, Mahshid S. Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R. Lalani, Daryl A. Scott

PLoS One. 2017; 12(4): e0175962. Published online 2017 Apr 17. doi: 10.1371/journal.pone.0175962

PMCID:: PMC5393878

Abstract Article PDF–2.8M

Select item 33262754.

Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

G. Houge, I.H. Rasmussen, R. Hovland

Mol Syndromol. 2012 Jan; 2(2): 60–63. Published online 2011 Dec 20. doi: 10.1159/000335159

PMCID:: PMC3326275

Abstract Article PDF–112K

Select item 55963705.

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

Yongheng Duan, Sheng Lin, Lichun Xie, Kaifeng Zheng, Shiguo Chen, Hui Song, Xuchun Zeng, Xueying Gu, Heyun Wang, Linghua Zhang, Hao Shao, Wenxu Hong, Lijie Zhang, Shan Duan

Genet Mol Biol. 2017 Jul-Sep; 40(3): 591–596. Published online 2017 Aug 31. doi: 10.1590/1678-4685-GMB-2016-0249

PMCID:: PMC5596370

Abstract Article PDF–1.3M

Select item 31165966.

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

Cheryl Shoubridge, Randall S Walikonis, Jozef Gécz, Robert J Harvey

Small GTPases. 2010 Sep-Oct; 1(2): 98–103. doi: 10.4161/sgtp.1.2.13285

PMCID:: PMC3116596

Abstract Article PDF–2.5M

Select item 74378577.

Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report

Alina Bogliş, Adriana S. Cosma, Florin Tripon, Claudia Bãnescu

Medicine (Baltimore) 2020 Aug 14; 99(33): e21632. Published online 2020 Aug 14. doi: 10.1097/MD.0000000000021632

PMCID:: PMC7437857

Abstract Article PDF–798K

Select item 78658438.

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

Sadegheh Haghshenas, Michael A. Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Haley McConkey, Tugce Balci, Victoria Mok Siu, Cindy D. Skinner, Roger E. Stevenson, Bekim Sadikovic, Charles Schwartz

Int J Mol Sci. 2021 Feb; 22(3): 1111. Published online 2021 Jan 23. doi: 10.3390/ijms22031111

PMCID:: PMC7865843

Abstract Article PDF–2.4M

Select item 27521859.

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X‐linked mental retardation with hydrocephalus and calcifications in basal ganglia

Y Saillour, G Zanni, V Des Portes, D Heron, L Guibaud, M T Iba‐Zizen, J L Pedespan, K Poirier, L Castelnau, C Julien, C Franconnet, D Bonthron, M E Porteous, J Chelly, T Bienvenu

J Med Genet. 2007 Nov; 44(11): 739–744. Published online 2007 Jul 14. doi: 10.1136/jmg.2007.051334

PMCID:: PMC2752185

Abstract Article PDF–518K

Select item 256323210.

Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH

D Lugtenberg, A P M de Brouwer, T Kleefstra, A R Oudakker, S G M Frints, C T R M Schrander‐Stumpel, J P Fryns, L R Jensen, J Chelly, C Moraine, G Turner, J A Veltman, B C J Hamel, B B A de Vries, H van Bokhoven, H G Yntema

J Med Genet. 2006 Apr; 43(4): 362–370. Published online 2005 Sep 16. doi: 10.1136/jmg.2005.036178

PMCID:: PMC2563232

Abstract Article PDF–329K

Select item 841476411.

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Xin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du, Jian Tang

BMC Pediatr. 2021; 21: 384. Published online 2021 Sep 3. doi: 10.1186/s12887-021-02860-4

PMCID:: PMC8414764

Abstract Article PDF–1022K

Select item 173503612.

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

A Lossi, F Laugier-Anfossi, D Depetris, J Gecz, A Gedeon, F Kooy, C Schwartz, M Mattei, M Croquette, L Villard

J Med Genet. 2002 Feb; 39(2): 113–117. doi: 10.1136/jmg.39.2.113

PMCID:: PMC1735036

Summary PDF–169K

Select item 589294313.

Lack of 2'-O-methylation in the tRNA anticodon loop of two phylogenetically distant yeast species activates the general amino acid control pathway

Lu Han, Michael P. Guy, Yoshiko Kon, Eric M. Phizicky

PLoS Genet. 2018 Mar; 14(3): e1007288. Published online 2018 Mar 29. doi: 10.1371/journal.pgen.1007288

PMCID:: PMC5892943

Abstract Article PDF–6.6M

Select item 891802314.

Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders?

Katherine M. Bonefas, Shigeki Iwase

FEBS J. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: FEBS J. 2022 Apr; 289(8): 2301–2317. Published online 2021 Oct 8. doi: 10.1111/febs.16196

PMCID:: PMC8918023

Abstract Article PDF–1.5M

Select item 511043315.

Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B

Jeffrey Hannah, Pengbo Zhou

Gene. Author manuscript; available in PMC 2016 Nov 15.

Published in final edited form as: Gene. 2015 Nov 15; 573(1): 33–45. Published online 2015 Sep 3. doi: 10.1016/j.gene.2015.08.064

PMCID:: PMC5110433

Abstract Article PDF–885K

Select item 497914716.

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Jonathan D. J. Labonne, Tyler D. Graves, Yiping Shen, Julie R. Jones, Il-Keun Kong, Lawrence C. Layman, Hyung-Goo Kim

BMC Neurol. 2016; 16: 132. Published online 2016 Aug 9. doi: 10.1186/s12883-016-0642-z

PMCID:: PMC4979147

Abstract Article PDF–2.5M

Select item 1140745817.

Síndrome de discapacidad intelectual ligada a X con macrocefalia por deleción del gen BRWD3

Ignacio Arroyo-Carrera, Rafael Romero-Peguero, Rebeca Martín-Fernández, Alba Ramajo-Polo, Verónica García-Navas Núñez

Rev Neurol. 2024; 78(11): 323–326. Spanish. Published online 2024 Jun 1. doi: 10.33588/rn.7811.2024057

PMCID:: PMC11407458

Abstract Article PDF–367K

Select item 995404018.

Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C

Katherine M. Bonefas, Christina N. Vallianatos, Brynne Raines, Natalie C. Tronson, Shigeki Iwase

Cells. 2023 Feb; 12(4): 637. Published online 2023 Feb 16. doi: 10.3390/cells12040637

PMCID:: PMC9954040

Abstract Article PDF–1.2M

Select item 440449319.

Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability

Eric R. Londin, Jeffrey Adijanto, Nancy Philp, Antonio Novelli, Emilia Vitale, Chiara Perria, Gigliola Serra, Viola Alesi, Saul Surrey, Paolo Fortina

Am J Med Genet A. Author manuscript; available in PMC 2015 Apr 21.

Published in final edited form as: Am J Med Genet A. 2014 Sep; 0(9): 2294–2299. Published online 2014 Jun 4. doi: 10.1002/ajmg.a.36629

PMCID:: PMC4404493

Abstract Article PDF–679K

Select item 440261620.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos, Denise Horn

Eur J Hum Genet. 2015 May; 23(5): 633–638. Published online 2014 Jun 11. doi: 10.1038/ejhg.2014.109