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Select item 107484351.

Tetraparesis following thoracic spine surgery in a patient with Klippel–Feil syndrome and ABCB4 mutation: a case report

Michele Da Broi, Aria Nouri, Gildas Patet, Luca Paun, Andrea Bartoli, Granit Molliqaj, Karl Schaller, Enrico Tessitore

J Med Case Rep. 2023; 17: 528. Published online 2023 Dec 23. doi: 10.1186/s13256-023-04263-8

PMCID:: PMC10748435

Article PDF–1.2M

Select item 84709392.

GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment

Raymond A. Clarke, Zhiming Fang, Dedee Murrell, Tabrez Sheriff, Valsamma Eapen

Genes (Basel) 2021 Sep; 12(9): 1354. Published online 2021 Aug 29. doi: 10.3390/genes12091354

PMCID:: PMC8470939

Article PDF–2.3M

Select item 83720723.

The VANGL1 P384R variant cause both neural tube defect and Klippel‐Feil syndrome

Chen Cheng, Sheng Zhao, Xia Zhu, Fan Yang, Weiyun Wang, Qian Feng, Ya Liu, Hui Huang, Xinlin Chen

Mol Genet Genomic Med. 2021 Jul; 9(7): e1710. Published online 2021 May 20. doi: 10.1002/mgg3.1710

PMCID:: PMC8372072

Article PDF–891K

Select item 81180684.

Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background

Husain Abdulameer Abdali, Joseph Rivendra Duddu, Mohamed Jawad Mubarak, Almughirah Salahaldin Mohamed

BMJ Case Rep. 2021; 14(5): e241906. Published online 2021 May 12. doi: 10.1136/bcr-2021-241906

PMCID:: PMC8118068

Article PDF–609K

Select item 78231065.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Ella M M A Martin, Annabelle Enriquez, Duncan B Sparrow, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Emma L Duncan, Kavitha R Iyer, Joelene A Greasby, Eddie Ip, Eleni Giannoulatou, Delicia Sheng, Elizabeth Wohler, Clémantine Dimartino, Jeanne Amiel, Yline Capri, Daphné Lehalle, Adi Mory, Yael Wilnai, Yael Lebenthal, Ali G Gharavi, Grażyna G Krzemień, Monika Miklaszewska, Robert D Steiner, Cathy Raggio, Robert Blank, Hagit Baris Feldman, Hila Milo Rasouly, Nara L M Sobreira, Rebekah Jobling, Christopher T Gordon, Philip F Giampietro, Sally L Dunwoodie, Gavin Chapman

Hum Mol Genet. 2020 Nov 15; 29(22): 3662–3678. Published online 2020 Dec 4. doi: 10.1093/hmg/ddaa258

PMCID:: PMC7823106

Article PDF–1.5M

Select item 76883436.

GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth

Fuchun Zhou, David J. Elzi, Panneerselvam Jayabal, Xiuye Ma, Yu-Chiao Chiu, Yidong Chen, Barron Blackman, Susan T. Weintraub, Peter J. Houghton, Yuzuru Shiio

Cell Rep. Author manuscript; available in PMC 2020 Nov 25.

Published in final edited form as: Cell Rep. 2020 Nov 3; 33(5): 108332. doi: 10.1016/j.celrep.2020.108332

PMCID:: PMC7688343

Article PDF–1.9M

Select item 72850017.

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Kathleen M. Schieffer, Elizabeth Varga, Katherine E. Miller, Vibhuti Agarwal, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Ashita Dave-Wala, Christopher R. Pierson, Jonathan L. Finlay, Mohamed S. AbdelBaki, Peter White, Vincent Magrini, Richard K. Wilson, Elaine R. Mardis, Catherine E. Cottrell

Eur J Med Genet. Author manuscript; available in PMC 2020 Jun 10.

Published in final edited form as: Eur J Med Genet. 2019 Aug; 62(8): 103701. Published online 2019 Jun 10. doi: 10.1016/j.ejmg.2019.103701

PMCID:: PMC7285001

Article PDF–541K

Select item 71498428.

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome

Ziquan Li, Sen Zhao, Siyi Cai, Yuanqiang Zhang, Lianlei Wang, Yuchen Niu, Xiaoxin Li, Jianhua Hu, Jingdan Chen, Shengru Wang, Huizi Wang, Gang Liu, Ye Tian, Zhihong Wu, Terry Jianguo Zhang, DISCO (Deciphering Disorders Involving Scoliosis and COmorbidities) study, Yipeng Wang, Nan Wu

BMC Musculoskelet Disord. 2020; 21: 220. Published online 2020 Apr 11. doi: 10.1186/s12891-020-03229-x

PMCID:: PMC7149842

Article PDF–614K

Select item 62311729.

Skeletal malformations of Meox1‐deficient zebrafish resemble human Klippel–Feil syndrome

Mervyn V. P. Dauer, Peter D. Currie, Joachim Berger

J Anat. 2018 Dec; 233(6): 687–695. Published online 2018 Oct 2. doi: 10.1111/joa.12890

PMCID:: PMC6231172

Article PDF–1.9M

Select item 483795310.

Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome

Ender Karaca, Ozge O. Yuregir, Sevcan T. Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N. Jhangiani, Zeynep C. Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M. Atik, Serkan Erdin, Donna Muzny, Richard A. Gibbs, James R. Lupski, The Baylor-Hopkins Center for Mendelian Genomics

Am J Med Genet A. Author manuscript; available in PMC 2016 Apr 20.

Published in final edited form as: Am J Med Genet A. 2015 Nov; 167A(11): 2795–2799. Published online 2015 Aug 4. doi: 10.1002/ajmg.a.37263

PMCID:: PMC4837953

Article PDF–334K

Select item 384974511.

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

Fatih Bayrakli, Bulent Guclu, Cengiz Yakicier, Hatice Balaban, Ugur Kartal, Bekir Erguner, Mahmut Samil Sagiroglu, Sirin Yuksel, Ahmet Rasit Ozturk, Burak Kazanci, Unal Ozum, Hamit Zafer Kars

BMC Genet. 2013; 14: 95. Published online 2013 Sep 28. doi: 10.1186/1471-2156-14-95

PMCID:: PMC3849745

Article PDF–2.3M

Select item 363123312.

Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates

Christina A. Markunas, Karen Soldano, Kaitlyn Dunlap, Heidi Cope, Edgar Asiimwe, Jeffrey Stajich, David Enterline, Gerald Grant, Herbert Fuchs, Simon G. Gregory, Allison E. Ashley-Koch

PLoS One. 2013; 8(4): e61521. Published online 2013 Apr 19. doi: 10.1371/journal.pone.0061521

PMCID:: PMC3631233

Article PDF–720K

Select item 354246413.

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

Jawahir Y. Mohamed, Eissa Faqeih, Abdulmonem Alsiddiky, Muneera J. Alshammari, Niema A. Ibrahim, Fowzan S. Alkuraya

Am J Hum Genet. 2013 Jan 10; 92(1): 157–161. doi: 10.1016/j.ajhg.2012.11.016

PMCID:: PMC3542464

Article PDF–804K

Select item 303876614.

Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation

Hiroaki Honda, Keiyo Takubo, Hideaki Oda, Kenjiro Kosaki, Tatsuya Tazaki, Norimasa Yamasaki, Kazuko Miyazaki, Kateri A. Moore, Zen-ichiro Honda, Toshio Suda, Ihor R. Lemischka

Proc Natl Acad Sci U S A. 2011 Feb 8; 108(6): 2468–2473. Published online 2011 Jan 20. doi: 10.1073/pnas.1003403108