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Items: 1 to 20 of 32

1.
Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis
Gréta Antal, Anna Zsigmond, Ágnes Till, Eniko Orsi, Ildiko Szanto, Gergely Büki, László Kereskai, Zsuzsanna Herbert, Kinga Hadzsiev, Judit Bene
Pathol Oncol Res. 2024; 30: 1611768. Published online 2024 May 14. doi: 10.3389/pore.2024.1611768
PMCID:
PMC11130347
AbstractArticlePDF–1.5M
2.
Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study: Características clínicas e citogenéticas de uma amostra brasileira de pacientes com fenótipo de espectro óculo-aurículo-vertebral: um estudo transversal
Alessandra Pawelec da Silva, Rafael Fabiano Machado Rosa, Patrícia Trevisan, Juliana Cavalheiro Dorneles, Camila Saporiti Mesquita, Vinicius Freitas de Mattos, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen
Sao Paulo Med J. 2015; 133(3): 191–198. Published online 2014 Oct 17. doi: 10.1590/1516-3180.2013.7762204
PMCID:
PMC10876367
AbstractArticlePDF–1.3M
3.
Polyhydramnios associated with rare genetic syndromes: two case reports
C. W. C. Lim, I. E. Lustestica, W. B. Poon, W. C. Tan
J Med Case Rep. 2024; 18: 97. Published online 2024 Feb 19. doi: 10.1186/s13256-024-04435-0
PMCID:
PMC10875787
AbstractArticlePDF–1.1M
4.
肋骨分叉-基底细胞痣-颌骨囊肿综合征两家系基因序列变异分析
彭 笑, 陈 默, 王 栋, 韩 瑞, 高 廷益, 刘 亮, 刘 畅, 张 凯
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Apr 25; 52(2): 223–229. Chinese. doi: 10.3724/zdxbyxb-2022-0492
PMCID:
PMC10409912
AbstractArticlePDF–4.5M
5.
A Phase Ib/II Study of WNT974 + Encorafenib + Cetuximab in Patients With BRAF V600E-Mutant KRAS Wild-Type Metastatic Colorectal Cancer
Josep Tabernero, Eric Van Cutsem, Elena Garralda, David Tai, Filippo De Braud, Ravit Geva, Mark T J van Bussel, Katia Fiorella Dotti, Elena Elez, María J de Miguel, Kevin Litwiler, Danielle Murphy, Michelle Edwards, Van Karlyle Morris
Oncologist. 2023 Mar; 28(3): 230–238. Published online 2023 Feb 23. doi: 10.1093/oncolo/oyad007
PMCID:
PMC10020809
AbstractArticlePDF–196K
6.
Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis
Sabrina Shameen Alam, Shruti Kumar, Marie-Claude Beauchamp, Eric Bareke, Alexia Boucher, Nadine Nzirorera, Yanchen Dong, Reinnier Padilla, Si Jing Zhang, Jacek Majewski, Loydie A. Jerome-Majewska
Dis Model Mech. 2022 Jun 1; 15(6): dmm049544. Published online 2022 Jun 23. doi: 10.1242/dmm.049544
PMCID:
PMC9235875
AbstractArticle
7.
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features
Eric S. Traub, Sarah E. Sheppard, Yoav Dori, Katelyn D. Burns, Elaine H. Zackai, Stephanie M. Ware, Benjamin J. Landis, Dong Li, David D. Weaver
Clin Dysmorphol. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Clin Dysmorphol. 2021 Apr 1; 30(2): 89–92. doi: 10.1097/MCD.0000000000000347
PMCID:
PMC7933106
AbstractArticlePDF–476K
8.
Does acute promyelocytic leukemia patient with the STAT5B/RARa fusion gene respond well to decitabine?: A case report and literature review
Lei Wang, Xiaojing Yan, Juan He
Medicine (Baltimore) 2020 Oct 23; 99(43): e22923. Published online 2020 Oct 23. doi: 10.1097/MD.0000000000022923
PMCID:
PMC7581092
AbstractArticlePDF–322K
9.
microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs
Steven Woods, Sarah Charlton, Kat Cheung, Yao Hao, Jamie Soul, Louise N. Reynard, Natalie Crowe, Tracey E. Swingler, Andrew J. Skelton, Katarzyna A. Piróg, Colin G. Miles, Dimitra Tsompani, Robert M. Jackson, Tamas Dalmay, Ian M. Clark, Matt J. Barter, David A. Young
RNA. 2020 Nov; 26(11): 1575–1588. doi: 10.1261/rna.075176.120
PMCID:
PMC7566571
AbstractArticlePDF–8.1M
10.
Functionally distinct roles for T and Tbx6 during mouse development
Amy K. Wehn, Deborah R. Farkas, Carly E. Sedlock, Dibya Subedi, Deborah L. Chapman
Biol Open. 2020 Aug 15; 9(8): bio054692. Published online 2020 Aug 27. doi: 10.1242/bio.054692
PMCID:
PMC7473639
AbstractArticlePDF–1.6M
11.
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report
Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren, Elise Gradhand
BMC Med Genet. 2020; 21: 64. Published online 2020 Mar 30. doi: 10.1186/s12881-020-01007-z
PMCID:
PMC7106792
AbstractArticlePDF–1.1M
12.
A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis
Kunihiko Miyazaki, Satoshi Komatsubara, Koki Uno, Ryuji Fujihara, Tetsuji Yamamoto
Medicine (Baltimore) 2019 Nov; 98(48): e17828. Published online 2019 Nov 27. doi: 10.1097/MD.0000000000017828
PMCID:
PMC6890279
AbstractArticlePDF–399K
13.
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton
Christine P. Burren, Richard Caswell, Bruce Castle, C. Ross Welch, Tom N. Hilliard, Sarah F. Smithson, Sian Ellard
Am J Med Genet A. 2018 Sep; 176(9): 1950–1955. Published online 2018 Aug 25. doi: 10.1002/ajmg.a.40484
PMCID:
PMC6563443
AbstractArticlePDF–11M
14.
A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan
Ann-Kathrin Struck, Claudia Dierks, Marina Braun, Maren Hellige, Anna Wagner, Bernd Oelmaier, Andreas Beineke, Julia Metzger, Ottmar Distl
BMC Genet. 2018; 19: 91. Published online 2018 Oct 11. doi: 10.1186/s12863-018-0678-8
PMCID:
PMC6180608
AbstractArticlePDF–1.4M
15.
A protocol for urine collection and storage prior to DNA methylation analysis
J. Bosschieter, S. Bach, I. V. Bijnsdorp, L. I. Segerink, W. F. Rurup, A. P. van Splunter, I. Bahce, P. W. Novianti, G. Kazemier, R. J. A. van Moorselaar, R. D. M. Steenbergen, J. A. Nieuwenhuijzen
PLoS One. 2018; 13(8): e0200906. Published online 2018 Aug 24. doi: 10.1371/journal.pone.0200906
PMCID:
PMC6108475
AbstractArticlePDF–2.1M
16.
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type
N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, M. Bamshad, D. Nickerson, D. H. Cohn, D. Krakow
Clin Genet. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Clin Genet. 2017 Aug; 92(2): 158–165. Published online 2017 Mar 13. doi: 10.1111/cge.12947
PMCID:
PMC5538819
AbstractArticlePDF–311K
17.
Ultrastructural and Molecular Characterisation of an Heterosporis-Like Microsporidian in Australian Sea Snakes (Hydrophiinae)
Amber K. Gillett, Richard Ploeg, Peter J. O’Donoghue, Phoebe A. Chapman, Richard I. Webb, Mark Flint, Paul C. Mills
PLoS One. 2016; 11(3): e0150724. Published online 2016 Mar 23. doi: 10.1371/journal.pone.0150724
PMCID:
PMC4805256
AbstractArticlePDF–1.5M
18.
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, Hye-Ran Lee, Lotta Högberg, Gintautas Grigelionis, Ok-Hwa Kim, Gen Nishimura, Tae-Joon Cho
Orphanet J Rare Dis. 2016; 11: 1. Published online 2016 Jan 4. doi: 10.1186/s13023-015-0380-0
PMCID:
PMC4700746
AbstractArticlePDF–2.2M
19.
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
Masayo Kagami, Kenji Kurosawa, Osamu Miyazaki, Fumitoshi Ishino, Kentaro Matsuoka, Tsutomu Ogata
Eur J Hum Genet. 2015 Oct; 23(11): 1488–1498. Published online 2015 Feb 18. doi: 10.1038/ejhg.2015.13
PMCID:
PMC4613461
AbstractArticlePDF–2.1M
20.
The Mammalian Cervical Vertebrae Blueprint Depends on the T (brachyury) Gene
Andreas Kromik, Reiner Ulrich, Marian Kusenda, Andrea Tipold, Veronika M. Stein, Maren Hellige, Peter Dziallas, Frieder Hadlich, Philipp Widmann, Tom Goldammer, Wolfgang Baumgärtner, Jürgen Rehage, Dierck Segelke, Rosemarie Weikard, Christa Kühn
Genetics. 2015 Mar; 199(3): 873–883. Published online 2015 Jan 22. doi: 10.1534/genetics.114.169680
PMCID:
PMC4349078
AbstractArticlePDF–4.2M

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