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Year | Number of Results |
---|---|
2002 | 2 |
2006 | 2 |
2011 | 1 |
2012 | 2 |
2015 | 1 |
2024 | 0 |
PubMed (cited) for id: 610682
7 results
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Page 1
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Am J Med Genet A. 2015 Mar;167A(3):587-91. doi: 10.1002/ajmg.a.36916. Epub 2015 Jan 21.
Am J Med Genet A. 2015.
PMID: 25604815
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS.
Shaheen R, et al.
J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142.
J Med Genet. 2012.
PMID: 23054245
Item in Clipboard
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
Valli M, Barnes AM, Gallanti A, Cabral WA, Viglio S, Weis MA, Makareeva E, Eyre D, Leikin S, Antoniazzi F, Marini JC, Mottes M.
Valli M, et al.
Clin Genet. 2012 Nov;82(5):453-9. doi: 10.1111/j.1399-0004.2011.01794.x. Epub 2011 Oct 19.
Clin Genet. 2012.
PMID: 21955071
Free PMC article.
Item in Clipboard
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC.
Barnes AM, et al.
N Engl J Med. 2006 Dec 28;355(26):2757-64. doi: 10.1056/NEJMoa063804.
N Engl J Med. 2006.
PMID: 17192541
Free PMC article.
Item in Clipboard
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B.
Morello R, et al.
Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039.
Cell. 2006.
PMID: 17055431
Free article.
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Osteogenesis imperfecta type VII maps to the short arm of chromosome 3.
Labuda M, Morissette J, Ward LM, Rauch F, Lalic L, Roughley PJ, Glorieux FH.
Labuda M, et al.
Bone. 2002 Jul;31(1):19-25. doi: 10.1016/s8756-3282(02)00808-6.
Bone. 2002.
PMID: 12110407
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Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.
Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, Roughley PJ, Glorieux FH.
Ward LM, et al.
Bone. 2002 Jul;31(1):12-8. doi: 10.1016/s8756-3282(02)00790-1.
Bone. 2002.
PMID: 12110406
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