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Select item 105683791.

RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report

Aren E. Marshall, Stella K. MacDonald, Yijing Liang, Madeline Couse, Care4Rare Canada Consortium, Kym M. Boycott, Julie Richer, Kristin D. Kernohan

Mol Genet Genomic Med. 2023 Oct; 11(10): e2247. Published online 2023 Jul 24. doi: 10.1002/mgg3.2247

PMCID:: PMC10568379

Abstract Article PDF–2.3M

Select item 101160422.

Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)

Wenqi Chen, Yazhou Li, Jing Zhang, Yufan Yuan, Donglan Sun, Jiayu Yuan, Kai Yang, Ying Liang, Qing Guo

Front Genet. 2023; 14: 1125473. Published online 2023 Apr 6. doi: 10.3389/fgene.2023.1125473

PMCID:: PMC10116042

Abstract Article PDF–2.9M

Select item 100640953.

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families

Yuying Fang, Shuo Li, Dongyi Yu

Front Genet. 2023; 14: 1075187. Published online 2023 Mar 17. doi: 10.3389/fgene.2023.1075187

PMCID:: PMC10064095

Abstract Article PDF–3.9M

Select item 100099084.

Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis

Qianying Zhao, Bocheng Xu, Qinqin Xiang, Yu Tan, Hanbing Xie, Qianqian Gao, Lingyi Wen, He Wang, Mei Yang, Shanling Liu

Mol Genet Genomic Med. 2023 Mar; 11(3): e2124. Published online 2022 Dec 20. doi: 10.1002/mgg3.2124

PMCID:: PMC10009908

Abstract Article PDF–3.6M

Select item 98085505.

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

Muqsit Buchh, Patrick J. Gillespie, Kayla Treat, Marco A. Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M. Helm, Fang Fang, Xiaoling Xuei, Lili Mantcheva, Kristen R. Suhrie, Brett H. Graham, Erin Conboy, Francesco Vetrini

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006254. doi: 10.1101/mcs.a006254

PMCID:: PMC9808550

Abstract Article PDF–3.4M

Select item 89177496.

Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

Chen Cheng, Xiuxiu Li, Sheng Zhao, Qian Feng, Xiang Ren, Xinlin Chen

BMC Med Genomics. 2022; 15: 55. Published online 2022 Mar 12. doi: 10.1186/s12920-022-01205-z

PMCID:: PMC8917749

Abstract Article PDF–1.4M

Select item 84684567.

The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes

Christine K. C. Loo, Michael A. Pearen, Grant A. Ramm

Int J Mol Sci. 2021 Sep; 22(18): 9854. Published online 2021 Sep 12. doi: 10.3390/ijms22189854

PMCID:: PMC8468456

Abstract Article PDF–1.5M

Select item 72639858.

Identification of novel compound heterozygous mutations of the DYNC2H1 gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly

Kaiyue Geng, Kai Mu, Yan Zhao, Jing Luan, Yazhou Cui, Jinxiang Han

Intractable Rare Dis Res. 2020 May; 9(2): 95–98. doi: 10.5582/irdr.2020.01031

PMCID:: PMC7263985

Abstract Article PDF–1.1M

Select item 70346849.

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

Dario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, Lorenzo Sinibaldi, Marco Castori, Evelina Silvestri, Andrea Dotta, Bruno Dallapiccola, Antonio Novelli

Medicine (Baltimore) 2020 Feb; 99(8): e19169. Published online 2020 Feb 21. doi: 10.1097/MD.0000000000019169

PMCID:: PMC7034684

Abstract Article PDF–550K

Select item 553881910.

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

Abstract Article PDF–311K

Select item 538721111.

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

Ivan Duran, S. Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M. Jacques, Robert Wallerstein, Ralph S. Lachman, Deborah A. Nickerson, Michael Bamshad, Daniel H. Cohn, Deborah Krakow

Cilia. 2017; 6: 7. Published online 2017 Apr 10. doi: 10.1186/s13630-017-0051-y

PMCID:: PMC5387211

Abstract Article PDF–2.6M

Select item 529123512.

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael Bamshad, University of Washington Center for Mendelian Genomics Consortium, Deborah Krakow, Daniel H. Cohn

Hum Mol Genet. 2016 Sep 15; 25(18): 4012–4020. Published online 2016 Jul 27. doi: 10.1093/hmg/ddw241

PMCID:: PMC5291235

Abstract Article PDF–814K

Select item 529123413.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

S. Paige Taylor, Michaela Kunova Bosakova, Miroslav Varecha, Lukas Balek, Tomas Barta, Lukas Trantirek, Iva Jelinkova, Ivan Duran, Iva Vesela, Kimberly N. Forlenza, Jorge H. Martin, Ales Hampl, University of Washington Center for Mendelian Genomics, Michael Bamshad, Deborah Nickerson, Margie L. Jaworski, Jieun Song, Hyuk Wan Ko, Daniel H. Cohn, Deborah Krakow, Pavel Krejci

Hum Mol Genet. 2016 Sep 15; 25(18): 3998–4011. Published online 2016 Jul 27. doi: 10.1093/hmg/ddw240

PMCID:: PMC5291234

Abstract Article PDF–2.1M

Select item 522564914.

The first rib hypoplasia and the aberrant pulmonary artery branch detected by three-dimensional computed tomography in a surgical case with apical lung cancer, a case report

Yasoo Sugiura, Hiroyuki Fujimoto, Masao Naruke, Toshinori Hashizume, Shizuka Kaseda, Etsuo Nemoto

BMC Surg. 2017; 17: 4. Published online 2017 Jan 11. doi: 10.1186/s12893-016-0199-1

PMCID:: PMC5225649

Abstract Article PDF–1.3M

Select item 503593015.

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

Ivan Duran, S. Paige Taylor, Wenjuan Zhang, Jorge Martin, Kimberly N. Forlenza, Rhonda P. Spiro, Deborah A. Nickerson, Michael Bamshad, Daniel H. Cohn, Deborah Krakow

Sci Rep. 2016; 6: 34232. Published online 2016 Sep 26. doi: 10.1038/srep34232

PMCID:: PMC5035930

Abstract Article PDF–1.8M

Select item 461462616.

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis

Ankur A. Gholkar, Silvia Senese, Yu-Chen Lo, Joseph Capri, William J Deardorff, Harish Dharmarajan, Ely Contreras, Emmanuelle Hodara, Julian P Whitelegge, Peter K Jackson, Jorge Z Torres

Cell Cycle. 2015 Apr 1; 14(7): 1116–1125. Published online 2015 Apr 1. doi: 10.4161/15384101.2014.985066

PMCID:: PMC4614626

Abstract Article PDF–1.1M

Select item 457327017.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

Am J Hum Genet. 2015 Aug 6; 97(2): 311–318. doi: 10.1016/j.ajhg.2015.06.003

Correction in:: Am J Hum Genet. 2015 Aug 6; 97(2): 353.

PMCID:: PMC4573270

Abstract Article PDF–1.4M

Select item 447033218.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Paige Taylor, Tiago J. Dantas, Ivan Duran, Sulin Wu, Ralph S. Lachman, University of Washington Center for Mendelian Genomics, Stanley F. Nelson, Daniel H. Cohn, Richard B. Vallee, Deborah Krakow

Nat Commun. Author manuscript; available in PMC 2015 Dec 16.

Published in final edited form as: Nat Commun. 2015; 6: 7092. Published online 2015 Jun 16. doi: 10.1038/ncomms8092

PMCID:: PMC4470332

Abstract Article PDF–1.8M

Select item 445287319.

A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

Nihat Demir, Erdal Peker, İbrahim Ece, Sultan Kaba, Kemal Ağengin, Oğuz Tuncer

Case Rep Pulmonol. 2015; 2015: 274639. Published online 2015 May 20. doi: 10.1155/2015/274639

PMCID:: PMC4452873

Abstract Article PDF–787K

Select item 382411220.

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Genevieve Baujat, Kim-Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire

Am J Hum Genet. 2013 Nov 7; 93(5): 926–931. doi: 10.1016/j.ajhg.2013.10.007

PMCID:: PMC3824112

Abstract Article PDF–781K

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