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Items: 1 to 20 of 500

1.
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini
BMC Med Genomics. 2024; 17: 100. Published online 2024 Apr 22. doi: 10.1186/s12920-024-01868-w
PMCID:
PMC11036775
AbstractArticlePDF–2.3M
2.
The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
Meng-Hua Li, I-Chieh Chen, Hui-Wen Yang, Hsin-Chien Yen, Yung-Chieh Huang, Chia-Chi Hsu, Yi-Ming Chen, Yu-Yuan Ke
Int J Med Sci. 2024; 21(5): 784–794. Published online 2024 Feb 25. doi: 10.7150/ijms.92766
PMCID:
PMC11008491
AbstractArticlePDF–1.1M
3.
The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
Han Wang, Xiumin Chen, Xiaolu Meng, Yixuan Cao, Shirui Han, Keqiang Liu, Ximeng Zhao, Xiuli Zhao, Xue Zhang
Bone Res. 2024; 12: 21. Published online 2024 Apr 1. doi: 10.1038/s41413-024-00322-y
PMCID:
PMC10984994
AbstractArticlePDF–3.5M
4.
Increasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis
Boang Han, Yu Wang, Shen Yue, Yun-hao Zhang, Lun Kuang, Bin-bin Gao, Yue Wang, Ziyu Zhang, Xiaohong Pu, Xin-fa Wang, Chi-chung Hui, Ting-ting Yu, Chen Liu, Steven Y. Cheng
JCI Insight. 2024 Mar 22; 9(6): e176044. Published online 2024 Feb 15. doi: 10.1172/jci.insight.176044
PMCID:
PMC10972619
AbstractArticlePDF–3.1M
5.
Novel homozygous mutations in TXNDC15 causing Meckel syndrome
Tianqin Deng, Yuli Xie
Mol Genet Genomic Med. 2024 Mar; 12(3): e2343. Published online 2023 Dec 29. doi: 10.1002/mgg3.2343
PMCID:
PMC10958169
AbstractArticlePDF–835K
6.
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review
Xiaohuan Pi, Qiming Zhang, Xinghua Wang, Fagang Jiang
Mol Genet Genomic Med. 2024 Mar; 12(3): e2414. Published online 2024 Mar 11. doi: 10.1002/mgg3.2414
PMCID:
PMC10926652
AbstractArticlePDF–5.4M
7.
Streamlined, single-step non-viral CRISPR-Cas9 knockout strategy enhances gene editing efficiency in primary human chondrocyte populations
Simone Ponta, Angela Bonato, Philipp Neidenbach, Valentino F. Bruhin, Alexis Laurent, Lee Ann Applegate, Marcy Zenobi-Wong, Goncalo Barreto
Arthritis Res Ther. 2024; 26: 66. Published online 2024 Mar 11. doi: 10.1186/s13075-024-03294-w
PMCID:
PMC10926593
AbstractArticlePDF–6.4M
8.
Type 1 diabetes in a patient with Ellis-van Creveld syndrome
Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin
Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009
PMCID:
PMC10906694
AbstractArticlePDF–406K
9.
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
10.
Chikungunya virus antepartum transmission and abnormal infant outcomes in a cohort of pregnant women in Nigeria
Atiene S. Sagay, Szu-Chia Hsieh, Yu-Ching Dai, Charlotte Ajeong Chang, Jerry Ogwuche, Olukemi O. Ige, Makshwar L. Kahansim, Beth Chaplin, Godwin Imade, Michael Elujoba, Michael Paul, Donald J. Hamel, Hideki Furuya, Ricardo Khouri, Viviane Sampaio Boaventura, Laíse de Moraes, Phyllis J. Kanki, Wei-Kung Wang
Int J Infect Dis. Author manuscript; available in PMC 2024 Feb 5.
Published in final edited form as: Int J Infect Dis. 2024 Feb; 139: 92–100. Published online 2023 Dec 4. doi: 10.1016/j.ijid.2023.11.036
PMCID:
PMC10843725
AbstractArticlePDF–967K
11.
Affinity-optimizing enhancer variants disrupt development
Fabian Lim, Joe J. Solvason, Genevieve E. Ryan, Sophia H. Le, Granton A. Jindal, Paige Steffen, Simran K. Jandu, Emma K. Farley
Nature. 2024; 626(7997): 151–159. Published online 2024 Jan 17. doi: 10.1038/s41586-023-06922-8
PMCID:
PMC10830414
AbstractArticlePDF–9.0M
12.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
Erica L. Harris, Vincent Roy, Martin Montagne, Ailsa M.S. Rose, Helen Livesey, Margot R.F. Reijnders, Emma Hobson, Francis H. Sansbury, Marjolein H. Willemsen, Rolph Pfundt, Daniel Warren, Vernon Long, Ian M. Carr, Han G. Brunner, Eamonn G. Sheridan, Helen V. Firth, Pierre Lavigne, James A. Poulter
Am J Hum Genet. 2024 Jan 4; 111(1): 119–132. Published online 2023 Dec 22. doi: 10.1016/j.ajhg.2023.11.010
PMCID:
PMC10806738
AbstractArticlePDF–4.9M
13.
Proliferation and Differentiation Potential of Bone Marrow–Derived Mesenchymal Stem Cells From Children With Polydactyly and Adults With Basal Joint Arthritis
Shih-Han Yeh, Jin-Huei Yu, Po-Hsin Chou, Szu-Hsien Wu, Yu-Ting Liao, Yi-Chao Huang, Tung-Ming Chen, Jung-Pan Wang
Cell Transplant. 2024 Jan-Dec; 33: 09636897231221878. Published online 2024 Jan 2. doi: 10.1177/09636897231221878
PMCID:
PMC10762874
AbstractArticlePDF–2.6M
14.
Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly
Qin Shen, Xiaojun Zhao, Yongrong Ji, Peiwei Chai
J Craniofac Surg. 2024 Jan-Feb; 35(1): e52–e56. Published online 2023 Nov 8. doi: 10.1097/SCS.0000000000009801
PMCID:
PMC10749674
AbstractArticlePDF–411K
15.
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Genes (Basel) 2023 Dec; 14(12): 2212. Published online 2023 Dec 14. doi: 10.3390/genes14122212
PMCID:
PMC10742884
AbstractArticlePDF–4.1M
16.
Autonomous and non-cell autonomous role of cilia in structural birth defects in mice
Richard J. B. Francis, Jovenal T. San Agustin, Heather L. Szabo Rogers, Cheng Cui, Julie A. Jonassen, Thibaut Eguether, John A. Follit, Cecilia W. Lo, Gregory J. Pazour
PLoS Biol. 2023 Dec; 21(12): e3002425. Published online 2023 Dec 11. doi: 10.1371/journal.pbio.3002425
PMCID:
PMC10735189
AbstractArticlePDF–9.1M
17.
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie
BMC Med Genomics. 2023; 16: 318. Published online 2023 Dec 7. doi: 10.1186/s12920-023-01753-y
PMCID:
PMC10704717
AbstractArticlePDF–1.7M
18.
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
Paola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Harry Pachajoa
Medicine (Baltimore) 2023 Nov 24; 102(47): e35600. Published online 2023 Nov 24. doi: 10.1097/MD.0000000000035600
PMCID:
PMC10681469
AbstractArticlePDF–567K
19.
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations
Mahmoud R Fassad, Nisreen Rumman, Katrin Junger, Mitali P Patel, James Thompson, Patricia Goggin, Marius Ueffing, Tina Beyer, Karsten Boldt, Jane S Lucas, Hannah M Mitchison
Hum Mol Genet. 2023 Nov 1; 32(21): 3090–3104. Published online 2023 Aug 9. doi: 10.1093/hmg/ddad132
PMCID:
PMC10586200
AbstractArticlePDF–2.0M
20.
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh
HGG Adv. 2023 Oct 12; 4(4): 100238. Published online 2023 Sep 14. doi: 10.1016/j.xhgg.2023.100238
PMCID:
PMC10550848
AbstractArticlePDF–4.9M

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