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Select item 93328371.

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel

Genes (Basel) 2022 Aug; 13(8): 1339. Published online 2022 Jul 27. doi: 10.3390/genes13081339

PMCID:: PMC9332837

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Select item 81674772.

A new technique for neonatal Jeune syndrome: External thoracic expansion

Uğur Temel, Aslı Gül Akgül

Turk Gogus Kalp Damar Cerrahisi Derg. 2021 Apr; 29(2): 279–282. Published online 2021 Apr 26. doi: 10.5606/tgkdc.dergisi.2021.19731

PMCID:: PMC8167477

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Select item 76453803.

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci

EMBO Mol Med. 2020 Nov 6; 12(11): e11739. Published online 2020 Oct 14. doi: 10.15252/emmm.201911739

PMCID:: PMC7645380

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Select item 49002394.

Spinal correction of scoliosis in Jeune syndrome: a report of two cases

Wataru Saito, Gen Inoue, Takayuki Imura, Toshiyuki Nakazawa, Masayuki Miyagi, Takanori Namba, Eiki Shirasawa, Naonobu Takahira, Masashi Takaso

Scoliosis Spinal Disord. 2016; 11: 7. Published online 2016 Mar 2. doi: 10.1186/s13013-016-0069-8

PMCID:: PMC4900239

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Select item 45610955.

Anesthetic Approach for a Patient with Jeune Syndrome

Mehmet I. Buget, Emine Ozkan, Ipek S. Edipoglu, Suleyman Kucukay

Case Rep Anesthesiol. 2015; 2015: 509196. Published online 2015 Aug 23. doi: 10.1155/2015/509196

PMCID:: PMC4561095

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Select item 44637746.

Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

Kewal A. Mistry, Pokhraj P. Suthar, Siddharth R. Bhesania, Ankitkumar Patel

Pol J Radiol. 2015; 80: 296–299. Published online 2015 Jun 7. doi: 10.12659/PJR.894188

PMCID:: PMC4463774

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Select item 41846547.

A case of neonatal Jeune syndrome expanding the phenotype

Bruno Drera, Daniela Ferrari, Pietro Cavalli, Carlo Poggiani

Clin Case Rep. 2014 Aug; 2(4): 156–158. Published online 2014 Jun 2. doi: 10.1002/ccr3.85

PMCID:: PMC4184654

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Select item 36271328.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Miriam Schmidts, Heleen H Arts, Ernie M H F Bongers, Zhimin Yap, Machteld M Oud, Dinu Antony, Lonneke Duijkers, Richard D Emes, Jim Stalker, Jan-Bart L Yntema, Vincent Plagnol, Alexander Hoischen, Christian Gilissen, Elisabeth Forsythe, Ekkehart Lausch, Joris A Veltman, Nel Roeleveld, Andrea Superti-Furga, Anna Kutkowska-Kazmierczak, Erik-Jan Kamsteeg, Nursel Elçioğlu, Merel C van Maarle, Luitgard M Graul-Neumann, Koenraad Devriendt, Sarah F Smithson, Diana Wellesley, Nienke E Verbeek, Raoul C M Hennekam, Hulya Kayserili, Peter J Scambler, Philip L Beales, Nine VAM Knoers, Ronald Roepman, Hannah M Mitchison, UK10K

J Med Genet. 2013 May; 50(5): 309–323. Published online 2013 Mar 1. doi: 10.1136/jmedgenet-2012-101284

PMCID:: PMC3627132

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Select item 34578589.

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Steven J Keogh, Shane McKee, Sarah F Smithson, David Grier, Colin G Steward

BMC Pediatr. 2012; 12: 48. Published online 2012 May 3. doi: 10.1186/1471-2431-12-48

PMCID:: PMC3457858

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Select item 277615610.

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

J. de Vries, J. L. Yntema, C. E. van Die, N. Crama, E. A. M. Cornelissen, B. C. J. Hamel

Eur J Pediatr. 2010; 169(1): 77–88. Published online 2009 May 10. doi: 10.1007/s00431-009-0991-3

PMCID:: PMC2776156

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Select item 101702811.

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

L A Brueton, M J Dillon, R M Winter

J Med Genet. 1990 Apr; 27(4): 252–255. doi: 10.1136/jmg.27.4.252

PMCID:: PMC1017028

Summary Page Browse PDF–930K Cite

Select item 1066486412.

ATD: Augmenting CP Tensor Decomposition by Self Supervision

Chaoqi Yang, Cheng Qian, Navjot Singh, Cao Xiao, M Brandon Westover, Edgar Solomonik, Jimeng Sun

Adv Neural Inf Process Syst. Author manuscript; available in PMC 2023 Nov 22.

Published in final edited form as: Adv Neural Inf Process Syst. 2022; 35: 32039–32052.

PMCID:: PMC10664864

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Select item 1056837913.

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

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Select item 1056255814.

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques

Alessandro Inserra, Angelo Zarfati, Valerio Pardi, Arianna Bertocchini, Antonella Accinni, Ivan Pietro Aloi, Cristina Martucci, Simone Frediani

Front Pediatr. 2023; 11: 1253383. Published online 2023 Sep 26. doi: 10.3389/fped.2023.1253383

PMCID:: PMC10562558

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Select item 1011604215.

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

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Select item 1008899116.

Mean Atd Angle among Type 2 Diabetes Mellitus Patients Visiting a Tertiary Care Centre: A Descriptive Cross-sectional Study

Sheprala Shrestha, Dil Islam Mansur, Rajendra Tamrakar, Pragya Shrestha, Sunima Maskey

JNMA J Nepal Med Assoc. 2023 Feb; 61(258): 141–144. Published online 2023 Feb 28. doi: 10.31729/jnma.8035

PMCID:: PMC10088991

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Select item 1006409517.

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

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Select item 1000990818.

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

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Select item 986780519.

ASSOCIATION BETWEEN THE CTLA-4 EXON 1+49A/G POLYMORPHISM AND THE RELAPSE OF GRAVE’S DISEASE AFTER ATD WITHDRAWAL: A META-ANALYSIS

X. Jiang, H. Hu, Z. Fu, Y. Su, J. Long

Acta Endocrinol (Buchar) 2022 Jul-Sep; 18(3): 324–332. doi: 10.4183/aeb.2022.324

PMCID:: PMC9867805

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Select item 980855020.

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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