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Items: 1 to 20 of 500

1.
Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
Marina S. Oren, Jenny E. Camacho, Hongyan Xie, Jean Lowe, Tom Cushing, Carol Clericuzio, Jessie R. Maxwell
Clin Case Rep. 2019 May; 7(5): 898–902. Published online 2019 Mar 25. doi: 10.1002/ccr3.2109
PMCID:
PMC6509895
ArticlePubReaderPDF–388KCite
2.
Neuroimaging Features of San Luis Valley Syndrome
Matthew T. Whitehead, Bonmyong Lee
Case Rep Radiol. 2015; 2015: 748413. Published online 2015 Sep 6. doi: 10.1155/2015/748413
PMCID:
PMC4575718
ArticlePubReaderPDF–2.5MCite
3.
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.
A C Smith, K Spuhler, T M Williams, T McConnell, E Sujansky, A Robinson
Am J Hum Genet. 1987 Dec; 41(6): 1083–1103.
PMCID:
PMC1684361
SummaryPage BrowsePDF–2.5MCite
4.
Cloning, Sequencing, and Analysis of Inv8 Chromosome Breakpoints Associated with Recombinant 8 Syndrome
Sharon L. Graw, Timothy Sample, John Bleskan, Eva Sujansky, David Patterson
Am J Hum Genet. 2000 Mar; 66(3): 1138–1144. Published online 2000 Feb 25. doi: 10.1086/302821
PMCID:
PMC1288148
ArticlePubReaderPDF–759KCite
5.
The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents
Leona Morožin Pohovski, Ivona Sansović, Katarina Vulin, Ljubica Odak
Croat Med J. 2023 Oct; 64(5): 339–343. doi: 10.3325/cmj.2023.64.339
PMCID:
PMC10668035
ArticlePubReaderPDF–586KCite
6.
Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
Shuang Zhang, Qianwei Cui, Shangying Yang, Fangxia Zhang, Chunxia Li, Xiaoguang Wang, Bo Lei, Xunlun Sheng
BMC Pediatr. 2023; 23: 586. Published online 2023 Nov 22. doi: 10.1186/s12887-023-04368-5
PMCID:
PMC10664609
ArticlePubReaderPDF–3.2MCite
7.
Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders
Liping Zhang, Xu‐Ying Li, Fanxi Xu, Lehong Gao, Zhanjun Wang, Xianling Wang, Xian Li, Mengyu Liu, Junge Zhu, Tingyan Yao, Jing Ye, Xiao‐Hong Qi, Yaqing Wang, Guoguang Zhao, Chaodong Wang, The Xuanwu Molecular Counselling Group for Neurogenetic Diseases
Mol Genet Genomic Med. 2023 Nov; 11(11): e2243. Published online 2023 Jul 24. doi: 10.1002/mgg3.2243
PMCID:
PMC10655525
ArticlePubReaderPDF–3.9MCite
8.
Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene
Milos Kostic, Joseph J. Raymond, Christophe A. C. Freyre, Beata Henry, Tayfun Tumkaya, Jivan Khlghatyan, Jill Dvornik, Jingyao Li, Jack S. Hsiao, Seon Hye Cheon, Jonathan Chung, Yishan Sun, Ricardo E. Dolmetsch, Kathleen A. Worringer, Robert J. Ihry
ACS Chem Neurosci. 2023 Nov 15; 14(22): 3993–4012. Published online 2023 Oct 30. doi: 10.1021/acschemneuro.3c00442
PMCID:
PMC10655044
ArticlePubReaderPDF–4.6MCite
9.
Age of diagnosis for children with chromosome 15q syndromes
Anne C. Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley
J Neurodev Disord. 2023; 15: 37. Published online 2023 Nov 7. doi: 10.1186/s11689-023-09504-x
PMCID:
PMC10629121
ArticlePubReaderPDF–1.0MCite
10.
Double-strand breaks induce inverted duplication chromosome rearrangements by a DNA polymerase δ-dependent mechanism
Amr M. Al-Zain, Mattie R. Nester, Iffat Ahmed, Lorraine S. Symington
Nat Commun. 2023; 14: 7020. Published online 2023 Nov 2. doi: 10.1038/s41467-023-42640-5
PMCID:
PMC10622511
ArticlePubReaderPDF–5.4MCite
11.
Male infertility and genitourinary birth defects: there is more than meets the eye
Nahid Punjani, Dolores J. Lamb
Fertil Steril. Author manuscript; available in PMC 2023 Oct 22.
Published in final edited form as: Fertil Steril. 2020 Aug; 114(2): 209–218. doi: 10.1016/j.fertnstert.2020.06.042
Correction in:
volume 116 on page 608
PMCID:
PMC10590568
ArticlePubReaderPDF–357KCite
12.
Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study
Maria Rogdaki, Céline Devroye, Mariasole Ciampoli, Mattia Veronese, Abhishekh H. Ashok, Robert A. McCutcheon, Sameer Jauhar, Ilaria Bonoldi, Maria Gudbrandsen, Eileen Daly, Therese van Amelsvoort, Marianne Van Den Bree, Michael J. Owen, Federico Turkheimer, Francesco Papaleo, Oliver D. Howes
Mol Psychiatry. 2023; 28(5): 1995–2006. Published online 2021 May 12. doi: 10.1038/s41380-021-01108-y
PMCID:
PMC10575769
ArticlePubReaderPDF–1.6MCite
13.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene
Leoni S. Erbe, Sabine Hoffjan, Sören Janßen, Moritz Kneifel, Karsten Krause, Wanda M. Gerding, Kristina Döring, Anne-Katrin Güttsches, Andreas Roos, Elena Buena Atienza, Caspar Gross, Thomas Lücke, Hoa Huu Phuc Nguyen, Matthias Vorgerd, Cornelia Köhler
Int J Mol Sci. 2023 Oct; 24(19): 14716. Published online 2023 Sep 28. doi: 10.3390/ijms241914716
PMCID:
PMC10572545
ArticlePubReaderPDF–1.8MCite
14.
Newly discovered genomic mutation patterns in radiation-induced small intestinal tumors of ApcMin/+ mice
Daisuke Iizuka, Megumi Sasatani, Atsuko Ishikawa, Kazuhiro Daino, Tokuhisa Hirouchi, Kenji Kamiya
PLoS One. 2023; 18(10): e0292643. Published online 2023 Oct 12. doi: 10.1371/journal.pone.0292643
PMCID:
PMC10569626
ArticlePubReaderPDF–2.5MCite
15.
Copy number variation alters local and global mutational tolerance
Grace Avecilla, Pieter Spealman, Julia Matthews, Elodie Caudal, Joseph Schacherer, David Gresham
Genome Res. 2023 Aug; 33(8): 1340–1353. doi: 10.1101/gr.277625.122
PMCID:
PMC10547251
ArticlePubReaderPDF–19MCite
16.
Negative regulation of MurZ and MurA underlies the essentiality of GpsB- and StkP-mediated protein phosphorylation in Streptococcus pneumoniae D39
Ho-Ching Tiffany Tsui, Merrin Joseph, Jiaqi J. Zheng, Amilcar J. Perez, Irfan Manzoor, Britta E. Rued, John D. Richardson, Pavel Branny, Linda Doubravová, Orietta Massidda, Malcolm E. Winkler
Mol Microbiol. Author manuscript; available in PMC 2023 Sep 27.
Published in final edited form as: Mol Microbiol. 2023 Sep; 120(3): 351–383. Published online 2023 Jul 14. doi: 10.1111/mmi.15122
PMCID:
PMC10530524
ArticlePubReaderPDF–4.6MCite
17.
Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay
Jing Wang, Wei Wang, Wenbo Zhou, Yan Zhou, Linna Zhou, Xinyue Wang, Bin Yu, Bin Zhang
Orphanet J Rare Dis. 2023; 18: 278. Published online 2023 Sep 8. doi: 10.1186/s13023-023-02903-2
PMCID:
PMC10486099
ArticlePubReaderPDF–1.2MCite
18.
Nonlethal Furfural Exposure Causes Genomic Alterations and Adaptability Evolution in Saccharomyces cerevisiae
Lei Qi, Ying-Xuan Zhu, Ye-Ke Wang, Xing-Xing Tang, Ke-Jing Li, Min He, Yang Sui, Pin-Mei Wang, Dao-Qiong Zheng, Ke Zhang
Microbiol Spectr. 2023 Jul-Aug; 11(4): e01216-23. Published online 2023 Jul 3. doi: 10.1128/spectrum.01216-23
PMCID:
PMC10434202
ArticlePubReaderPDF–2.0MCite
19.
Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study
Meiying Cai, Yanting Que, Meihuan Chen, Min Zhang, Hailong Huang, Liangpu Xu, Na Lin
J Cell Mol Med. 2023 Aug; 27(16): 2354–2361. Published online 2023 Jul 3. doi: 10.1111/jcmm.17821
PMCID:
PMC10424293
ArticlePubReaderPDF–314KCite
20.
Practical Approaches for the Yeast Saccharomyces cerevisiae Genome Modification
Elena I. Stepchenkova, Sergey P. Zadorsky, Andrey R. Shumega, Anna Y. Aksenova
Int J Mol Sci. 2023 Aug; 24(15): 11960. Published online 2023 Jul 26. doi: 10.3390/ijms241511960
PMCID:
PMC10419131
ArticlePubReaderPDF–3.2MCite

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