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Items: 1 to 20 of 34

1.

Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity.

Chang MK, Kramer I, Keller H, Gooi JH, Collett C, Jenkins D, Ettenberg SA, Cong F, Halleux C, Kneissel M.

J Bone Miner Res. 2014 Jan;29(1):29-42. doi: 10.1002/jbmr.2059.

2.

SOST-Related Sclerosing Bone Dysplasias .

Beighton PH, Hamersma H, Brunkow ME.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Jun 04 [updated 2013 Jan 10].

3.

Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.

Kaissi AA, Csepan R, Hofstaetter JG, Klaushofer K, Ganger R, Grill F.

Clinics (Sao Paulo). 2012 Dec;67(12):1505-9. No abstract available.

4.

Lacrimo-auriculo-dento-digital syndrome with unilateral inner ear dysplasia and craniocervical osseous abnormalities: case report and review of literature.

Moses JE.

Clin Neuroradiol. 2013 Sep;23(3):221-4. doi: 10.1007/s00062-012-0170-1. Epub 2012 Aug 24. Review. No abstract available.

PMID:
23010692
5.

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semënov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK.

Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9.

PMID:
21221996
6.

The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS.

Am J Med Genet A. 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. Review.

7.

Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review.

Albert L Jr, Hirschfeld A.

Surg Neurol. 2009 Aug;72(2):157-61. doi: 10.1016/j.surneu.2008.02.030. Epub 2008 Jun 2. Review.

PMID:
18514293
8.

A boy with severe craniodiaphyseal dysplasia and apparently normal mother.

Bieganski T, Baranska D, Miastkowska I, Kobielski A, Gorska-Chrzastek M, Kozlowski K.

Am J Med Genet A. 2007 Oct 15;143A(20):2435-43.

PMID:
17853455
9.

Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis.

Shivanand G, Kandpal H.

Indian J Ophthalmol. 2007 May-Jun;55(3):219-21.

10.

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

Janssens K, Thompson E, Vanhoenacker F, Savarirayan R, Morris L, Dobbie A, Van Hul W.

Clin Dysmorphol. 2003 Oct;12(4):245-50.

PMID:
14564212
11.

MR imaging features of craniodiaphyseal dysplasia.

Marden FA, Wippold FJ 2nd.

Pediatr Radiol. 2004 Feb;34(2):167-70. Epub 2003 Oct 7.

PMID:
14530887
12.

[Craniodiaphyseal dysplasia, Lenz-Majewski type].

Okuyama T.

Ryoikibetsu Shokogun Shirizu. 2001;(33):507-8. Review. Japanese. No abstract available.

PMID:
11462541
13.

[Craniodiaphyseal dysplasia].

Kawame H.

Ryoikibetsu Shokogun Shirizu. 2001;(33):506. Review. Japanese. No abstract available.

PMID:
11462540
14.

Stenosis of the cervical canal in craniodiaphyseal dysplasia.

Naique S, Laheri VJ.

J Bone Joint Surg Br. 2001 Apr;83(3):328-31.

15.
16.

Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.

Sinow JD, Gruss JS, Roberts TS, Clarren SK, Graham CB, Mouradian W.

Cleft Palate Craniofac J. 1996 Jul;33(4):284-90.

PMID:
8827383
17.

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.

Richards A, Brain C, Dillon MJ, Bailey CM.

J Laryngol Otol. 1996 Apr;110(4):328-38.

PMID:
8733453
18.

Craniodiaphyseal dysplasia; another cause of difficult intubation.

Appleby JN, Bingham RM.

Paediatr Anaesth. 1996;6(3):225-9.

PMID:
8732615
19.

Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia.

McHugh DA, Rose GE, Garner A.

Br J Ophthalmol. 1994 Jun;78(6):501-3. No abstract available.

20.

Bone scan findings in craniometaphyseal dysplasia.

Ramseyer LT, Leonard JC, Stacy TM.

Clin Nucl Med. 1993 Feb;18(2):137-9.

PMID:
8432058
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