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Items: 1 to 20 of 162

1.
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
Andreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, Jacky Taylor, Rob Elles, Geert R Mortier, Jurgen Spranger, Bernhard Zabel, Sheila Unger, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Michael J Wright, Luisa Bonafe, Andrea Superti-Furga, Michael D Briggs
Eur J Hum Genet. Author manuscript; available in PMC 2009 Apr 20.
Published in final edited form as: Eur J Hum Genet. 2007 Feb; 15(2): 150–154. Published online 2006 Nov 29. doi: 10.1038/sj.ejhg.5201744
PMCID:
PMC2670452
AbstractArticlePDF–415K
2.
Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report
Takahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, Masaki Takagi, Tatsuro Kondoh, Gen Nishimura, Aritoshi Iida, Shiro Ikegawa, Nobuhiko Haga, Go Kato
BMC Res Notes. 2018; 11: 106. Published online 2018 Feb 7. doi: 10.1186/s13104-018-3227-7
PMCID:
PMC5804039
AbstractArticlePDF–1.5M
3.
Double-Layered Patella (DLP) in Multiple Epiphyseal Dysplasia (MED)
Annemieke Milants, Michel De Maeseneer, Johan De Mey
J Belg Soc Radiol. 2017; 101(1): 8. Published online 2017 Feb 2. doi: 10.5334/jbr-btr.1219
PMCID:
PMC5854308
AbstractArticlePDF–1.6M
4.
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu, Peiqiang Su
BMC Med Genet. 2018; 19: 70. Published online 2018 May 3. doi: 10.1186/s12881-018-0596-7
PMCID:
PMC5934830
AbstractArticlePDF–6.8M
5.
Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family
Johanna Dahlqvist, Hanna Örlén, Hans Matsson, Niklas Dahl, Torsten LÖnnerholm, Karl-Henrik Gustavson
Acta Orthop. 2009 Dec 4; 80(6): 711–715. Published online 2009 Dec 4. doi: 10.3109/17453670903473032
PMCID:
PMC2823319
AbstractArticlePDF–815K
6.
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
Sally L Cotterill, Gail C Jackson, Matthew P Leighton, Raimund Wagener, Outi Mäkitie, William G Cole, Michael D Briggs
Hum Mutat. 2005 Dec; 26(6): 557–565. doi: 10.1002/humu.20263
PMCID:
PMC2726956
AbstractArticlePDF–333K
7.
Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia
Selçuk SAYILIR, Timur EKİZ
Arch Rheumatol. 2017 Sep; 32(3): 260–263. Published online 2017 Jul 27. doi: 10.5606/ArchRheumatol.2018.6415
PMCID:
PMC6190958
AbstractArticlePDF–330K
8.
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
Jason Kennedy, Gail Jackson, Simon Ramsden, Jacky Taylor, William Newman, Michael J Wright, Dian Donnai, Rob Elles, Michael D Briggs
Eur J Hum Genet. Author manuscript; available in PMC 2009 Apr 24.
Published in final edited form as: Eur J Hum Genet. 2005 May; 13(5): 547–555. doi: 10.1038/sj.ejhg.5201374
PMCID:
PMC2673054
AbstractArticlePDF–306K
9.
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia
Vinod Dasa, James R.B. Eastwood, Michal Podgorski, Heewon Park, Christopher Blackstock, Tetyana Antoshchenko, Piotr Rogala, Tadeusz Bieganski, S. Michal Jazwinski, Malwina Czarny-Ratajczak
Am J Med Genet A. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 534–541. Published online 2019 Feb 10. doi: 10.1002/ajmg.a.61049
PMCID:
PMC6424334
AbstractArticlePDF–736K
10.
Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia
Sugata Narayan Biswas, Shinjan Patra, Partha Pratim Chakraborty, Himanshu Barman
BMJ Case Rep. 2017; 2017: bcr2017221156. Published online 2017 Oct 20. doi: 10.1136/bcr-2017-221156
PMCID:
PMC5665360
AbstractArticlePDF–3.0M
11.
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
Neerja Gupta, Alec Reginald Errol Correa, Manisha Jana, Madhulika Kabra
J Pediatr Genet. 2019 Sep; 8(3): 153–156. Published online 2019 Mar 12. doi: 10.1055/s-0039-1683382
PMCID:
PMC6688880
AbstractArticlePDF–298K
12.
Perthes' disease and multiple epiphyseal dysplasia.
H. E. Griffiths, P. J. Witherow
Postgrad Med J. 1977 Aug; 53(622): 464–472. doi: 10.1136/pgmj.53.622.464
PMCID:
PMC2496740
SummaryPage BrowsePDF–2.0M
13.
Arthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report
RK Trehan, N Dabbas, D Allwood, M Agarwal, C Kinmont
J Med Case Reports. 2008; 2: 172. Published online 2008 May 22. doi: 10.1186/1752-1947-2-172
PMCID:
PMC2412893
AbstractArticlePDF–439K
14.
Genetic Mapping of a Locus for Multiple Epiphyseal Dysplasia (EDM2) to a Region of Chromosome 1 Containing a Type IX Collagen Gene
Michael D. Briggs, HiChang Choi, Matthew L. Warman, John A. Loughlin, Paul Wordsworth, Bryan C. Sykes, Catherine M. M. Irven, Michael Smith, Ruth Wynne-Davies, Mark H. Lipson, Leslie G. Biesecker, Ann P. Garber, Ralph Lachman, Bjorn R. Olsen, David L. Rimoin, Daniel H. Cohn
Am J Hum Genet. 1994 Oct; 55(4): 678–684.
PMCID:
PMC1918298
SummaryPage BrowsePDF–1.0M
15.
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report
Thuong Thi Ho, Linh Huyen Tran, Lan Thu Hoang, Phuong Kim Thi Doan, Trang Thi Nguyen, Trang Hong Nguyen, Hoai Thu Tran, Ha Hoang, Ha Hoang Chu, Anh Lan Thi Luong
BMC Musculoskelet Disord. 2020; 21: 216. Published online 2020 Apr 7. doi: 10.1186/s12891-020-03222-4
PMCID:
PMC7140548
AbstractArticlePDF–3.7M
16.
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhihong Wu, Nan Wu
BMC Med Genet. 2020; 21: 115. Published online 2020 May 27. doi: 10.1186/s12881-020-01040-y
PMCID:
PMC7251693
AbstractArticlePDF–3.3M
17.
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.
R. Oehlmann, G. P. Summerville, G. Yeh, E. J. Weaver, S. A. Jimenez, R. G. Knowlton
Am J Hum Genet. 1994 Jan; 54(1): 3–10.
PMCID:
PMC1918067
SummaryPage BrowsePDF–1.0M
18.
Genetic heterogeneity in multiple epiphyseal dysplasia.
M Deere, S H Blanton, C I Scott, L O Langer, R M Pauli, J T Hecht
Am J Hum Genet. 1995 Mar; 56(3): 698–704.
PMCID:
PMC1801152
SummaryPage BrowsePDF–1.7M
19.
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson, Lihadh Al-Gazali
Orphanet J Rare Dis. 2012; 7: 27. Published online 2012 May 15. doi: 10.1186/1750-1172-7-27
PMCID:
PMC3492204
AbstractArticlePDF–1.6M
20.
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
Adila Al-Kindi, Praseetha Kizhakkedath, Huifang Xu, Anne John, Abeer Al Sayegh, Anuradha Ganesh, Maha Al-Awadi, Lamya Al-Anbouri, Lihadh Al-Gazali, Birgit Leitinger, Bassam R Ali
BMC Med Genet. 2014; 15: 42. Published online 2014 Apr 11. doi: 10.1186/1471-2350-15-42
PMCID:
PMC4001364
AbstractArticlePDF–2.3M

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