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Items: 9

1.

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H.

J Clin Invest. 2005 May;115(5):1250-7.

2.

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, Takagi M, Hasegawa T, Jüppner H, Ozono K.

Eur J Pediatr. 2014 Jun;173(6):799-804. doi: 10.1007/s00431-013-2252-8. Epub 2014 Jan 4. Review.

PMID:
24390061
3.

Recurrence of infantile cortical hyperostosis: a case report and review of the literature.

Navarre P, Pehlivanov I, Morin B.

J Pediatr Orthop. 2013 Mar;33(2):e10-7. doi: 10.1097/BPO.0b013e318277d3a2. Review.

PMID:
23389580
4.

Caffey disease: new perspectives on old questions.

Nistala H, Mäkitie O, Jüppner H.

Bone. 2014 Mar;60:246-51. doi: 10.1016/j.bone.2013.12.030. Epub 2013 Dec 31. Review.

5.

Infantile cortical hyperostosis (Caffey disease): a review.

Kamoun-Goldrat A, le Merrer M.

J Oral Maxillofac Surg. 2008 Oct;66(10):2145-50. doi: 10.1016/j.joms.2007.09.007. Review.

PMID:
18848116
6.

Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.

Schweiger S, Chaoui R, Tennstedt C, Lehmann K, Mundlos S, Tinschert S.

Am J Med Genet A. 2003 Aug 1;120A(4):547-52. Review.

PMID:
12884437
7.

Caffey Disease.

Guerin A, Dupuis L, Mendoza-Londono R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2012 Aug 2 [updated 2012 Nov 29].

8.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH.

Hum Mutat. 2007 Mar;28(3):209-21. Review.

9.

Antenatal-onset infantile cortical hyperostosis and nonimmune hydrops.

Herman TE.

J Perinatol. 1996 Mar-Apr;16(2 Pt 1):137-9. Review.

PMID:
8732564

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