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Select item 81674771.

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

Abstract Article PDF–592K

Select item 109963352.

Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype

Vehap Topcu, Said Furkan Yildirim, Husnu Mutlu Turan

Mol Syndromol. 2024 Mar; 15(2): 119–124. Published online 2023 Nov 3. doi: 10.1159/000534031

PMCID:: PMC10996335

Abstract Article PDF–361K

Select item 105625583.

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

Abstract Article PDF–6.0M

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

Abstract Article PDF–1018K

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

Abstract Article PDF–803K

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

Abstract Article PDF–1.0M

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

Abstract Article PDF–299K

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

Abstract Article PDF–534K

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

Abstract Article PDF–1.0M

Select item 933283710.

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

Abstract Article PDF–1.3M

Select item 764538011.

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

Abstract Article PDF–7.1M

Select item 277615612.

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

Abstract Article PDF–283K

Select item 101702813.

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

Select item 853735414.

The Use of the ATD Technique to Measure the Gelation Time of Epoxy Resins

Jakub Smoleń, Piotr Olesik, Paweł Gradoń, Mateusz Chudy, Bogusław Mendala, Mateusz Kozioł

Materials (Basel) 2021 Oct; 14(20): 6022. Published online 2021 Oct 13. doi: 10.3390/ma14206022

PMCID:: PMC8537354

Abstract Article PDF–2.2M

Select item 5198715.

Functional complementation of ataxia-telangiectasia group D (AT-D) cells by microcell-mediated chromosome transfer and mapping of the AT-D locus to the region 11q22-23.

C Lambert, R A Schultz, M Smith, C Wagner-McPherson, L D McDaniel, T Donlon, E J Stanbridge, E C Friedberg

Proc Natl Acad Sci U S A. 1991 Jul 1; 88(13): 5907–5911. doi: 10.1073/pnas.88.13.5907

PMCID:: PMC51987

Summary Page Browse PDF–1.1M

Select item 1097369716.

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra‐Skeletal Organ Involvement

Ali Alsuheel Asseri, Ahmad A Alzoani, Mohammed Almahdi, Hussein Almahdi, Nouf Almushayt, Noha Saad Alyazidi, Basmah Mohammed Al Mufarrih

Int Med Case Rep J. 2024; 17: 209–214. Published online 2024 Mar 23. doi: 10.2147/IMCRJ.S447466

PMCID:: PMC10973697

Abstract Article PDF–668K

Select item 1083159817.

Study on the dynamic change of volatile components of white tea in the pile-up processing based on sensory evaluation and ATD-GC–MS Technology

Hongzheng Lin, Liangyu Wu, Xiaoxi Ou, Jingjing Zhou, Jiao Feng, Wenping Zhang, Wanjun Bi, Zhilong Hao, Yun Sun

Food Chem X. 2024 Mar 30; 21: 101139. Published online 2024 Jan 14. doi: 10.1016/j.fochx.2024.101139

PMCID:: PMC10831598

Abstract Article PDF–5.1M

Select item 589432318.

Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report

Amit Katyan, Shabnam Bhandari Grover, Heena Rajani, Deepak Bagga, Neha Antil

Indian J Radiol Imaging. 2018 Jan-Mar; 28(1): 65–69. doi: 10.4103/ijri.IJRI_303_17

PMCID:: PMC5894323

Abstract Article PDF–1.4M

Select item 1066486419.

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

Abstract Article PDF–758K

Select item 598647420.

Effects of Dietary Acute Tryptophan Depletion (ATD) on NPY Serum Levels in Healthy Adult Humans Whilst Controlling for Methionine Supply—A Pilot Study

Janice W. Y. Wong, Hugo A. E. Morandini, Vita L. S. Dingerkus, Tilman J. Gaber, Kevin C. Runions, Pradeep Rao, Simone Mahfouda, Katrin Helmbold, Sarah Bubenzer-Busch, Rebecca Koenemann, Richard M. Stewart, Florian D. Zepf

Nutrients. 2018 May; 10(5): 594. Published online 2018 May 11. doi: 10.3390/nu10050594

PMCID:: PMC5986474

Abstract Article PDF–272K

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