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Items: 18

1.
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano
Genes (Basel) 2021 Sep; 12(9): 1395. Published online 2021 Sep 10. doi: 10.3390/genes12091395
PMCID:
PMC8467821
AbstractArticlePDF–1.4M
2.
Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene
P Dogan, IG Varal, O Gorukmez, MO Akkurt, A Akdag
Balkan J Med Genet. 2019 Jun; 22(1): 89–94. Published online 2019 Aug 28. doi: 10.2478/bjmg-2019-0001
PMCID:
PMC6714336
AbstractArticlePDF–6.8M
3.
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases
Wenbo Wang, Qichang Wu, Li Sun, Xiaohong Zhong, Yasong Xu, Xiaojian Xie, Zhiying Su
Case Rep Obstet Gynecol. 2019; 2019: 7981767. Published online 2019 Jul 17. doi: 10.1155/2019/7981767
PMCID:
PMC6662492
AbstractArticlePDF–1.4M
4.
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
H. S. Lee, J. W. Doh, C. J. Kim, J. G. Chi
J Korean Med Sci. 2000 Oct; 15(5): 604–608. doi: 10.3346/jkms.2000.15.5.604
PMCID:
PMC3054684
SummaryPDF–505K
5.
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.
A. Superti-Furga
Am J Hum Genet. 1994 Dec; 55(6): 1137–1145.
PMCID:
PMC1918434
SummaryPage BrowsePDF–2.4M
6.
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
M Godfrey, D W Hollister
Am J Hum Genet. 1988 Dec; 43(6): 904–913.
PMCID:
PMC1715608
SummaryPage BrowsePDF–2.2M
7.
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.
M Godfrey, D R Keene, E Blank, H Hori, L Y Sakai, L A Sherwin, D W Hollister
Am J Hum Genet. 1988 Dec; 43(6): 894–903.
PMCID:
PMC1715601
SummaryPage BrowsePDF–3.7M
8.
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis.
H E Gruber, R S Lachman, D L Rimoin
J Anat. 1990 Dec; 173: 69–75.
PMCID:
PMC1256081
SummaryPage BrowsePDF–1.7M
9.
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.
J Bonaventure, L Cohen-Solal, P Ritvaniemi, L Van Maldergem, N Kadhom, A L Delezoide, P Maroteaux, D J Prockop, L Ala-Kokko
Biochem J. 1995 May 1; 307(Pt 3): 823–830. doi: 10.1042/bj3070823
PMCID:
PMC1136723
SummaryPage BrowsePDF–2.7M
10.
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.
W A Horton, M A Machado, J Ellard, D Campbell, J Bartley, F Ramirez, E Vitale, B Lee
Proc Natl Acad Sci U S A. 1992 May 15; 89(10): 4583–4587. doi: 10.1073/pnas.89.10.4583
PMCID:
PMC49127
SummaryPage BrowsePDF–1.6M
11.
Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias
Chao Zheng, Xisheng Lin, Xiaolong Xu, Cheng Wang, Jinru Zhou, Bo Gao, Jing Fan, Weiguang Lu, Yaqian Hu, Qiang Jie, Zhuojing Luo, Liu Yang
EBioMedicine. 2019 Feb; 40: 695–709. Published online 2019 Jan 23. doi: 10.1016/j.ebiom.2019.01.010
PMCID:
PMC6413327
AbstractArticlePDF–8.8M
12.
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
J. Hästbacka, A. Superti-Furga, W. R. Wilcox, D. L. Rimoin, D. H. Cohn, E. S. Lander
Am J Hum Genet. 1996 Feb; 58(2): 255–262.
PMCID:
PMC1914552
SummaryPage BrowsePDF–1.7M
13.
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
G E Tiller, M A Weis, P A Polumbo, H E Gruber, D L Rimoin, D H Cohn, D R Eyre
Am J Hum Genet. 1995 Feb; 56(2): 388–395.
PMCID:
PMC1801144
SummaryPage BrowsePDF–1.9M
14.
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
G. Mortier, M. Weis, L. Nuytinck, L. King, D. Wilkin, A. De Paepe, R. Lachman, D. Rimoin, D. Eyre, D. Cohn
J Med Genet. 2000 Apr; 37(4): 263–271. doi: 10.1136/jmg.37.4.263
Correction in:
J Med Genet. 2000 Oct; 37(10): 815.
PMCID:
PMC1734564
SummaryPDF–259K
15.
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.
D R Eyre, M P Upton, F D Shapiro, R H Wilkinson, G F Vawter
Am J Hum Genet. 1986 Jul; 39(1): 52–67.
PMCID:
PMC1684025
SummaryPage BrowsePDF–3.8M
16.
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
Yukari Kobayashi, Yuki Ito, Kosuke Taniguchi, Kana Harada, Michihiro Yamamura, Taisuke Sato, Ken Takahashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto
Hum Genome Var. 2022; 9: 40. Published online 2022 Nov 15. doi: 10.1038/s41439-022-00218-5
PMCID:
PMC9663423
AbstractArticlePDF–676K
17.
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives
Amaka C. Offiah, Jerry Vockley, Craig F. Munns, Jun Murotsuki
Pediatr Radiol. 2019; 49(1): 3–22. Published online 2018 Oct 3. doi: 10.1007/s00247-018-4239-0
PMCID:
PMC6313373
AbstractArticlePDF–16M
18.
Sulphate in Pregnancy
Paul A. Dawson, Aoife Elliott, Francis G. Bowling
Nutrients. 2015 Mar; 7(3): 1594–1606. Published online 2015 Mar 4. doi: 10.3390/nu7031594
PMCID:
PMC4377868
AbstractArticlePDF–574K

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