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Items: 1 to 20 of 35

1.
Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome
Bakri Alzarka, Rachel Usala, Matthew T. Whitehead, Sun-Young Ahn
Front Pediatr. 2018; 6: 273. Published online 2018 Oct 11. doi: 10.3389/fped.2018.00273
PMCID:
PMC6193093
ArticlePubReaderPDF–815KCite
2.
Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome
Gareth Chapman, Mouhamed Alsaqati, Sharna Lunn, Tanya Singh, Stefanie C. Linden, David E. J. Linden, Marianne B. M. van den Bree, Mike Ziller, Michael J. Owen, Jeremy Hall, Adrian J. Harwood, Yasir Ahmed Syed
Mol Psychiatry. 2022; 27(2): 819–830. Published online 2021 Jun 10. doi: 10.1038/s41380-021-01182-2
PMCID:
PMC9054650
ArticlePubReaderPDF–4.1MCite
3.
Recurrent 1q21.1 Deletion Syndrome: Report on Variable Expression, Non-Penetrance and Review of Literature
Priyanka Upadhyai, Eram Fatima Amiri, Vishal Singh Guleria, Stephanie L Bielas, Katta Mohan Girisha, Anju Shukla
Clin Dysmorphol. Author manuscript; available in PMC 2021 Oct 29.
Published in final edited form as: Clin Dysmorphol. 2020 Jul; 29(3): 127–131. doi: 10.1097/MCD.0000000000000327
PMCID:
PMC8555865
ArticlePubReaderPDF–605KCite
4.
Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders
Joy Yoon, Yingwei Mao
Int J Mol Sci. 2021 Jun; 22(11): 5811. Published online 2021 May 28. doi: 10.3390/ijms22115811
PMCID:
PMC8197994
ArticlePubReaderPDF–1.1MCite
5.
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
Seth A. Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, Jieqiong Dai, Mia Steinberg, Joshua P. Waterfall, David Roberson, Bari J. Ballew, Weiyin Zhou, Sarah L. Anzick, Yuan Jiang, Yonghong Wang, Yuelin J. Zhu, Paul S. Meltzer, Joseph Boland, Blanche P. Alter, Sharon A. Savage
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004564. doi: 10.1101/mcs.a004564
Correction in:
Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a005116.
PMCID:
PMC6913155
ArticlePubReaderPDF–3.3MCite
6.
AMPK signaling linked to the schizophrenia-associated 1q21.1 deletion is required for neuronal and sleep maintenance
Stanislav Nagy, Gianna W. Maurer, Julie L. Hentze, Morten Rose, Thomas M. Werge, Kim Rewitz
PLoS Genet. 2018 Dec; 14(12): e1007623. Published online 2018 Dec 19. doi: 10.1371/journal.pgen.1007623
PMCID:
PMC6317821
ArticlePubReaderPDF–3.0MCite
7.
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
BMC Med Genet. 2018; 19: 41. Published online 2018 Mar 9. doi: 10.1186/s12881-018-0556-2
PMCID:
PMC5845372
ArticlePubReaderPDF–757KCite
8.
Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication
Hong‐Dan Wang, Lin Liu, Dong Wu, Tao Li, Cun‐Ying Cui, Lian‐Zhong Zhang, Cheng‐Zeng Wang
J Gene Med. 2017 Apr; 19(4): e2948. Published online 2017 Apr 21. doi: 10.1002/jgm.2948
PMCID:
PMC5413856
ArticlePubReaderPDF–1.4MCite
9.
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
Irene Bottillo, Marco Castori, Carmelilia De Bernardo, Romano Fabbri, Barbara Grammatico, Nicoletta Preziosi, Giovanna Sforzolini Scassellati, Evelina Silvestri, Antonella Spagnuolo, Luigi Laino, Paola Grammatico
BMC Res Notes. 2013; 6: 376. Published online 2013 Sep 22. doi: 10.1186/1756-0500-6-376
PMCID:
PMC3849061
ArticlePubReaderPDF–1.4MCite
10.
一个血小板减少伴桡骨缺失综合征家系的遗传学研究及产前诊断
丽 丁, 颖之 黄, 叶青 钱, 旻岳 董
Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Jul 20; 52(4): 711–715. Chinese. doi: 10.12182/20210760508
PMCID:
PMC10409395
ArticlePubReaderPDF–2.3MCite
11.
Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation
Xiaohui Wen, Huanxia Xing, Keyan Qi, Hao Wang, Xiaojun Li, Jianjiang Zhu, Wenqi Chen, Limin Cui, Jing Zhang, Hong Qi
Dis Markers. 2022; 2022: 5487452. Published online 2022 Apr 27. doi: 10.1155/2022/5487452
PMCID:
PMC10241571
ArticlePubReaderPDF–1.4MCite
12.
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Ida E. Sønderby, Dennis van der Meer, Clara Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J. Armstrong, Manon Bernard, Nicholas B. Blackburn, John Blangero, Dorret I. Boomsma, Henry Brodaty, Rachel M. Brouwer, Robin Bülow, Rune Bøen, Wiepke Cahn, Vince D. Calhoun, Svenja Caspers, Christopher R. K. Ching, Sven Cichon, Simone Ciufolini, Benedicto Crespo-Facorro, Joanne E. Curran, Anders M. Dale, Shareefa Dalvie, Paola Dazzan, Eco J. C. de Geus, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Sylvane Desrivieres, Joanne L. Doherty, Gary Donohoe, Bogdan Draganski, Stefan Ehrlich, Else Eising, Thomas Espeseth, Kim Fejgin, Simon E. Fisher, Tormod Fladby, Oleksandr Frei, Vincent Frouin, Masaki Fukunaga, Thomas Gareau, Tian Ge, David C. Glahn, Hans J. Grabe, Nynke A. Groenewold, Ómar Gústafsson, Jan Haavik, Asta K. Haberg, Jeremy Hall, Ryota Hashimoto, Jayne Y. Hehir-Kwa, Derrek P. Hibar, Manon H. J. Hillegers, Per Hoffmann, Laurena Holleran, Avram J. Holmes, Georg Homuth, Jouke-Jan Hottenga, Hilleke E. Hulshoff Pol, Masashi Ikeda, Neda Jahanshad, Christiane Jockwitz, Stefan Johansson, Erik G. Jönsson, Niklas R. Jørgensen, Masataka Kikuchi, Emma E. M. Knowles, Kuldeep Kumar, Stephanie Le Hellard, Costin Leu, David E. J. Linden, Jingyu Liu, Arvid Lundervold, Astri Johansen Lundervold, Anne M. Maillard, Nicholas G. Martin, Sandra Martin-Brevet, Karen A. Mather, Samuel R. Mathias, Katie L. McMahon, Allan F. McRae, Sarah E. Medland, Andreas Meyer-Lindenberg, Torgeir Moberget, Claudia Modenato, Jennifer Monereo Sánchez, Derek W. Morris, Thomas W. Mühleisen, Robin M. Murray, Jacob Nielsen, Jan E. Nordvik, Lars Nyberg, Loes M. Olde Loohuis, Roel A. Ophoff, Michael J. Owen, Tomas Paus, Zdenka Pausova, Juan M. Peralta, G. Bruce Pike, Carlos Prieto, Erin B. Quinlan, Céline S. Reinbold, Tiago Reis Marques, James J. H. Rucker, Perminder S. Sachdev, Sigrid B. Sando, Peter R. Schofield, Andrew J. Schork, Gunter Schumann, Jean Shin, Elena Shumskaya, Ana I. Silva, Sanjay M. Sisodiya, Vidar M. Steen, Dan J. Stein, Lachlan T. Strike, Ikuo K. Suzuki, Christian K. Tamnes, Alexander Teumer, Anbupalam Thalamuthu, Diana Tordesillas-Gutiérrez, Anne Uhlmann, Magnus O. Ulfarsson, Dennis van ‘t Ent, Marianne B. M. van den Bree, Pierre Vanderhaeghen, Evangelos Vassos, Wei Wen, Katharina Wittfeld, Margaret J. Wright, Ingrid Agartz, Srdjan Djurovic, Lars T. Westlye, Hreinn Stefansson, Kari Stefansson, Sébastien Jacquemont, Paul M. Thompson, Ole A. Andreassen, for the ENIGMA-CNV working group
Transl Psychiatry. 2021; 11: 182. Published online 2021 Mar 22. doi: 10.1038/s41398-021-01213-0
PMCID:
PMC7985307
ArticlePubReaderPDF–4.9MCite
13.
Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review
Hongguo Zhang, Fagui Yue, Xinyue Zhang, Jing He, Yuting Jiang, Ruizhi Liu, Yang Yu
Medicine (Baltimore) 2021 Jan 8; 100(1): e24227. Published online 2021 Jan 8. doi: 10.1097/MD.0000000000024227
PMCID:
PMC7793324
ArticlePubReaderPDF–326KCite
14.
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne, Ryan K. C. Yuen
Orphanet J Rare Dis. 2021; 16: 6. Published online 2021 Jan 6. doi: 10.1186/s13023-020-01648-6
PMCID:
PMC7788915
ArticlePubReaderPDF–1.6MCite
15.
Clinical phenotype of the recurrent 1q21.1 copy-number variant
Raphael Bernier, Kyle J. Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H. Sherr, Nicholas Pojman, Heather C. Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson, Robin P. Goin-Kochel, Leandra Berry, Stephen Kanne, LeeAnne Green Snyder, Sarah Spence, Melissa B. Ramocki, David W. Evans, John E. Spiro, Christa L. Martin, David H. Ledbetter, Wendy K. Chung
Genet Med. Author manuscript; available in PMC 2020 Jun 1.
Published in final edited form as: Genet Med. 2016 Apr; 18(4): 341–349. Published online 2015 Jun 11. doi: 10.1038/gim.2015.78
PMCID:
PMC7263044
ArticlePubReaderPDF–719KCite
16.
Separable neural mechanisms for the pleiotropic association of copy number variants with neuropsychiatric traits
Jonathan R. Reinwald, Alexander Sartorius, Wolfgang Weber-Fahr, Markus Sack, Robert Becker, Michael Didriksen, Tine B. Stensbøl, Adam J. Schwarz, Andreas Meyer-Lindenberg, Natalia Gass
Transl Psychiatry. 2020; 10: 93. Published online 2020 Mar 13. doi: 10.1038/s41398-020-0771-4
PMCID:
PMC7069945
ArticlePubReaderPDF–2.0MCite
17.
Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures
Mark Drakesmith, Greg D. Parker, Jacqueline Smith, Stefanie C. Linden, Elliott Rees, Nigel Williams, Michael J. Owen, Marianne van den Bree, Jeremy Hall, Derek K. Jones, David E. J. Linden
Transl Psychiatry. 2019; 9: 102. Published online 2019 Feb 25. doi: 10.1038/s41398-019-0440-7
PMCID:
PMC6389944
ArticlePubReaderPDF–1.3MCite
18.
Effects of pathogenic CNVs on physical traits in participants of the UK Biobank
David Owen, Mathew Bracher-Smith, Kimberley M. Kendall, Elliott Rees, Mark Einon, Valentina Escott-Price, Michael J. Owen, Michael C. O’Donovan, George Kirov
BMC Genomics. 2018; 19: 867. Published online 2018 Dec 4. doi: 10.1186/s12864-018-5292-7
PMCID:
PMC6278042
ArticlePubReaderPDF–997KCite
19.
An estimation of the prevalence of genomic disorders using chromosomal microarray data
M.A. Gillentine, P.J. Lupo, P. Stankiewicz, C.P. Schaaf
J Hum Genet. Author manuscript; available in PMC 2018 Oct 24.
Published in final edited form as: J Hum Genet. 2018 Jul; 63(7): 795–801. Published online 2018 Apr 24. doi: 10.1038/s10038-018-0451-x
PMCID:
PMC6019170
ArticlePubReaderPDF–614KCite
20.
Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications
Douglas F. Levinson, Jubao Duan, Sang Oh, Kai Wang, Alan R. Sanders, Jianxin Shi, Nancy Zhang, Bryan J. Mowry, Ann Olincy, Farooq Amin, C. Robert Cloninger, Jeremy M. Silverman, Nancy G. Buccola, William F. Byerley, Donald W. Black, Kenneth S. Kendler, Robert Freedman, Frank Dudbridge, Itsik Pe’er, Hakon Hakonarson, Sarah E. Bergen, Ayman H. Fanous, Peter A. Holmans, Pablo V. Gejman
Am J Psychiatry. Author manuscript; available in PMC 2015 May 22.
Published in final edited form as: Am J Psychiatry. 2011 Mar; 168(3): 302–316. Published online 2011 Feb 1. doi: 10.1176/appi.ajp.2010.10060876
PMCID:
PMC4441324
ArticlePubReaderPDF–1.0MCite

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