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Items: 1 to 20 of 23

1.
Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype
Ali Al Kaissi, Farid Ben Chehida, Rudolf Ganger, Franz Grill
J Clin Imaging Sci. 2014; 4: 53. Published online 2014 Sep 29. doi: 10.4103/2156-7514.141939
PMCID:
PMC4204300
AbstractArticlePDF–438K
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
Sara Mumtaz, Hafiza Fizzah Riaz, Mohammad Touseef, Sulman Basit, Muhammad Faiyaz Ul Haque, Sajid Malik
Pak J Med Sci. 2015 Nov-Dec; 31(6): 1542–1544. doi: 10.12669/pjms.316.8115
PMCID:
PMC4744317
AbstractArticlePDF–859K
10.
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
11.
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
12.
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
13.
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D. Mueller, Birgit S. Budde, Christopher T. Gordon, Denise Horn, Petra Seemann, Guntram Borck
Orphanet J Rare Dis. 2015; 10: 84. Published online 2015 Jun 24. doi: 10.1186/s13023-015-0299-5
PMCID:
PMC4482310
AbstractArticlePDF–1.8M
14.
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
15.
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
16.
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
17.
Evaluation of the Efficacy of Mineralized Dentin Graft in the Treatment of Intraosseous Defects: An Experimental In Vivo Study
Nuray Özkahraman, Nilüfer Bölükbaşı Balcıoğlu, Merva Soluk Tekkesin, Yusuf Altundağ, Serdar Yalçın
Medicina (Kaunas) 2022 Jan; 58(1): 103. Published online 2022 Jan 10. doi: 10.3390/medicina58010103
PMCID:
PMC8777758
AbstractArticlePDF–8.5M
18.
Dwarfism and gigantism in historical picture postcards.
A Enderle
J R Soc Med. 1998 May; 91(5): 273–278. doi: 10.1177/014107689809100511
PMCID:
PMC1296707
SummaryPage BrowsePDF–1.9M
19.
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
G. Tutku Turgut, Ibrahim Halil Kalelioglu, Volkan Karaman, Tugba Sarac Sivrikoz, Birsen Karaman, Zehra Oya Uyguner, Tugba Kalayci
Mol Syndromol. 2023 Apr; 14(2): 152–157. Published online 2022 Dec 23. doi: 10.1159/000527955
PMCID:
PMC10091002
AbstractArticlePDF–259K
20.
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valerie Cormier-Daire, Stefan Mundlos, Christian Kubisch, Guntram Borck, Eva Klopocki, Thomas D Mueller, Sandra C Doelken, Petra Seemann
Eur J Hum Genet. 2014 Jun; 22(6): 726–733. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.222
PMCID:
PMC4023204
AbstractArticlePDF–2.2M

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