PMC Articles for MedGen (Select 44252) - PMC

Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach

Am J Hum Genet. 2012 Aug 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017

PMCID:: PMC3415538

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Select item 28909245.

Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)

Pramod Setty Jutur, Chandan Pramod Kumar, Shetteppa Goroshi

Indian J Radiol Imaging. 2010 May; 20(2): 138–142. doi: 10.4103/0971-3026.63044

PMCID:: PMC2890924

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Select item 10488466.

Parental consanguinity and the Majewski syndrome.

I L Black, J Fitzsimmons, E Fitzsimmons, A J Thomas

J Med Genet. 1982 Apr; 19(2): 141–143. doi: 10.1136/jmg.19.2.141

PMCID:: PMC1048846

Summary Page Browse PDF–653K Cite

Select item 10170067.

Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

P Meinecke, H Hayek

J Med Genet. 1990 Mar; 27(3): 200–202. doi: 10.1136/jmg.27.3.200

PMCID:: PMC1017006

Summary Page Browse PDF–599K Cite

Select item 27339688.

Transabdominal Embryofetoscopy for the Detection of Short Rib-polydactyly Syndrome, Type II(Majewski), in the First Trimester

Kook Lee, Jin Woo Lee, Doo Byung Chay, Sang Hee Lee, Si Hyun Cho, Bo Wook Kim, Ju Youn Hwang, Min Soo Park

J Korean Med Sci. 2006 Feb; 21(1): 165–168. Published online 2006 Feb 20. doi: 10.3346/jkms.2006.21.1.165

PMCID:: PMC2733968

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Select item 58385279.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A. Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B. Sousa, Lionel Van Maldergem

Am J Med Genet A. 2018 Mar; 176(3): 668–675. Published online 2018 Jan 17. doi: 10.1002/ajmg.a.38604

PMCID:: PMC5838527

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Select item 484347810.

Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions

Mira Sohn, Pavlina Ivanova, H. Alex Brown, Daniel J. Toth, Peter Varnai, Yeun Ju Kim, Tamas Balla

Proc Natl Acad Sci U S A. 2016 Apr 19; 113(16): 4314–4319. Published online 2016 Apr 4. doi: 10.1073/pnas.1525719113

PMCID:: PMC4843478

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Select item 440263511.

Tectonic gene mutations in patients with Joubert syndrome

Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, Hanno J Bolz, Barbara Zoll, Jutta Gärtner, Carsten Bergmann

Eur J Hum Genet. 2015 May; 23(5): 616–620. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.160

PMCID:: PMC4402635

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Select item 301436712.

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Christian Thiel, Kristin Kessler, Andreas Giessl, Arno Dimmler, Stavit A. Shalev, Sigrun von der Haar, Martin Zenker, Diana Zahnleiter, Hartmut Stöss, Ernst Beinder, Rami Abou Jamra, Arif B. Ekici, Nadja Schröder-Kreß, Thomas Aigner, Thomas Kirchner, André Reis, Johann H. Brandstätter, Anita Rauch

Am J Hum Genet. 2011 Jan 7; 88(1): 106–114. doi: 10.1016/j.ajhg.2010.12.004

PMCID:: PMC3014367

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Select item 980855013.

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

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Select item 891774914.

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

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Select item 839158015.

Ciliary Dyneins and Dynein Related Ciliopathies

Dinu Antony, Han G. Brunner, Miriam Schmidts

Cells. 2021 Aug; 10(8): 1885. Published online 2021 Jul 25. doi: 10.3390/cells10081885

PMCID:: PMC8391580

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Select item 780439916.

SRPS associated protein WDR60 regulates the multipolar-to-bipolar transition of migrating neurons during cortical development

Cui Li, Yu Zheng, Yufang Zheng, Zhiheng Xu

Cell Death Dis. 2021 Jan; 12(1): 75. Published online 2021 Jan 12. doi: 10.1038/s41419-020-03363-3

PMCID:: PMC7804399

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Select item 776755117.

Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy

Xinyue Zhang, Yanqin You, Xiaoxiao Xie, Hong Xu, Honghui Zhou, Yuanmei Lei, Pei Sun, Yuanguang Meng, Longxia Wang, Yanping Lu

Mol Genet Genomic Med. 2020 Dec; 8(12): e1524. Published online 2020 Oct 8. doi: 10.1002/mgg3.1524

PMCID:: PMC7767551

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Select item 703468418.

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

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Select item 553881919.

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

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Select item 529123520.

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

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