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Items: 13

1.
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello
Ital J Pediatr. 2022; 48: 133. Published online 2022 Jul 29. doi: 10.1186/s13052-022-01329-z
PMCID:
PMC9336156
AbstractArticlePDF–990K
2.
Macrophage migration inhibitory factor regulates joint capsule fibrosis by promoting TGF-β1 production in fibroblasts
Yuxin Zhang, Zhonglong Liu, Kexin Wang, Shenji Lu, Shuai Fan, Lili Xu, Bin Cai
Int J Biol Sci. 2021; 17(7): 1837–1850. Published online 2021 Apr 29. doi: 10.7150/ijbs.57025
PMCID:
PMC8120472
AbstractArticlePDF–2.5M
3.
Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli
BMJ Case Rep. 2019; 12(5): e229045. Published online 2019 May 8. doi: 10.1136/bcr-2018-229045
PMCID:
PMC6506140
AbstractArticlePDF–852K
4.
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan
Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C. Wong, Yuh-Jyh Jong
PLoS One. 2017; 12(2): e0170517. Published online 2017 Feb 9. doi: 10.1371/journal.pone.0170517
Correction in:
PLoS One. 2017; 12(8): e0183406.
PMCID:
PMC5300266
AbstractArticlePDF–1.9M
5.
A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred
Ali M. Waryah, Mohsin Shahzad, Hina Shaikh, Shakeel A. Sheikh, Naseem A. Channa, Robert B. Hufnagel, Asadullah Makhdoom, Saima Riazuddin, Zubair M. Ahmed
Clin Genet. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: Clin Genet. 2016 Jul; 90(1): 90–95. Published online 2015 Dec 21. doi: 10.1111/cge.12694
PMCID:
PMC4870159
AbstractArticlePDF–958K
6.
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Davor Lessel, Fuki M. Hisama, Katalin Szakszon, Bidisha Saha, Alexander Barrios Sanjuanelo, Bonnie A. Salbert, Pamela D. Steele, Jennifer Baldwin, W. Ted Brown, Charles Piussan, Henri Plauchu, Judit Szilvássy, Edit Horkay, Josef Hoögel, George M. Martin, Alan J. Herr, Junko Oshima, Christian Kubisch
Hum Mutat. Author manuscript; available in PMC 2015 Dec 18.
Published in final edited form as: Hum Mutat. 2015 Nov; 36(11): 1070–1079. Published online 2015 Aug 6. doi: 10.1002/humu.22833
PMCID:
PMC4684254
AbstractArticlePDF–726K
7.
A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers, Heather C. Mefford
Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 21.
Published in final edited form as: Am J Med Genet A. 2015 Nov; 167(11): 2691–2696. Published online 2015 Jun 18. doi: 10.1002/ajmg.a.37209
PMCID:
PMC4654953
AbstractArticlePDF–689K
8.
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis
Anne-Claude Tabet, Azzedine Aboura, Marion Gérard, Marion Pilorge, Céline Dupont, Jean-François Gadisseux, Nadège Hervy, Eva Pipiras, Andrée Delahaye, Samia Kanafani, Alain Verloes, Brigitte Benzacken, Catalina Betancur
Am J Med Genet A. Author manuscript; available in PMC 2010 Oct 25.
Published in final edited form as: Am J Med Genet A. 2010 Jul; 152A(7): 1781–1788. doi: 10.1002/ajmg.a.33433
PMCID:
PMC2962443
AbstractArticle
9.
Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients
Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, Eamonn R. Maher
Am J Hum Genet. 2008 Jan 10; 82(1): 222–227. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.016
PMCID:
PMC2253973
AbstractArticlePDF–642K
10.
Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome
Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E. V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher
Am J Hum Genet. 2006 Aug; 79(2): 390–395. Published online 2006 Jun 20. doi: 10.1086/506256
PMCID:
PMC1559492
AbstractArticlePDF–1.4M
11.
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
E K Pivnick, M B Qumsiyeh, A T Tharapel, J B Summitt, R S Wilroy
J Med Genet. 1990 Aug; 27(8): 523–526. doi: 10.1136/jmg.27.8.523
PMCID:
PMC1017204
SummaryPage BrowsePDF–635K
12.
Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene
Tommy Martinsson, Anders Oldfors, Niklas Darin, Kerstin Berg, Homa Tajsharghi, Mårten Kyllerman, Jan Wahlström
Proc Natl Acad Sci U S A. 2000 Dec 19; 97(26): 14614–14619. Published online 2000 Dec 12. doi: 10.1073/pnas.250289597
PMCID:
PMC18967
AbstractArticlePDF–626K
13.
Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Jan Hellemans, Marleen Simon, Annelies Dheedene, Yasemin Alanay, Ercan Mihci, Laila Rifai, Abdelaziz Sefiani, Yolande van Bever, Morteza Meradji, Andrea Superti-Furga, Geert Mortier
Am J Hum Genet. 2009 Dec 11; 85(6): 916–922. doi: 10.1016/j.ajhg.2009.11.005
PMCID:
PMC2790567
AbstractArticlePDF–729K

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