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Results: 1 to 20 of 161

1.

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA.

Am J Hum Genet. 2003 Oct;73(4):957-66. Epub 2003 Sep 12.

PMID:
12973667
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N.

Am J Hum Genet. 2003 Oct;73(4):791-800. Epub 2003 Aug 21.

PMID:
14508707
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.

Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M.

Am J Dermatopathol. 2007 Feb;29(1):99-103.

PMID:
17284973
[PubMed - indexed for MEDLINE]
4.

Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.

Lee JY, Tsai YM, Chao SC, Tu YF.

Clin Exp Dermatol. 2005 Mar;30(2):176-9.

PMID:
15725249
[PubMed - indexed for MEDLINE]
5.

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.

Deuquet J, Abrami L, Difeo A, Ramirez MC, Martignetti JA, van der Goot FG.

Hum Mutat. 2009 Apr;30(4):583-9. doi: 10.1002/humu.20872.

PMID:
19191226
[PubMed - indexed for MEDLINE]
6.

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.

Fong K, Rama Devi AR, Lai-Cheong JE, Chirla D, Panda SK, Liu L, Tosi I, McGrath JA.

Clin Exp Dermatol. 2012 Aug;37(6):635-8. doi: 10.1111/j.1365-2230.2011.04287.x. Epub 2012 Feb 2.

PMID:
22300424
[PubMed - indexed for MEDLINE]
7.

Characterization of the interaction between anthrax toxin and its cellular receptors.

Liu S, Leung HJ, Leppla SH.

Cell Microbiol. 2007 Apr;9(4):977-87.

PMID:
17381430
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, Han S, Stelini RF, Buzzo CL, Raposo-Amaral CA, Hart PS.

Am J Med Genet A. 2012 Apr;158A(4):732-42. doi: 10.1002/ajmg.a.35228. Epub 2012 Mar 1.

PMID:
22383261
[PubMed - indexed for MEDLINE]
9.

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM.

Am J Hum Genet. 2002 Oct;71(4):975-80. Epub 2002 Sep 4.

PMID:
12214284
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Periodontal treatment of two siblings with juvenile hyaline fibromatosis.

Hakki SS, Ataoglu T, Avunduk MC, Erdemli E, Gunhan O, Rahman N.

J Clin Periodontol. 2005 Sep;32(9):1016-21.

PMID:
16104968
[PubMed - indexed for MEDLINE]
11.

A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.

Wang YY, Wen CQ, Wei Z, Jin X.

J Pediatr Hematol Oncol. 2011 Dec;33(8):e355-7. doi: 10.1097/MPH.0b013e318223d0dc.

PMID:
22042284
[PubMed - indexed for MEDLINE]
12.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
13.

A solitary calvarial lytic lesion with typical histopathological findings of juvenile hyaline fibromatosis.

Bas NS, Güzey FK, Emel E, Cefle K, Turgut H, Alatas I, Sel B, Palanduz S, Ozturk S, Bas SC.

J Neurosurg. 2005 Sep;103(3 Suppl):285-8.

PMID:
16238086
[PubMed - indexed for MEDLINE]
14.

Infantile systemic hyalinosis: Case report and review of the literature.

Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW.

J Am Acad Dermatol. 2008 Feb;58(2):303-7. doi: 10.1016/j.jaad.2007.06.008. Review.

PMID:
18222328
[PubMed - indexed for MEDLINE]
15.

Crystal structure of the von Willebrand factor A domain of human capillary morphogenesis protein 2: an anthrax toxin receptor.

Lacy DB, Wigelsworth DJ, Scobie HM, Young JA, Collier RJ.

Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6367-72. Epub 2004 Apr 12.

PMID:
15079089
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.

Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP.

Dermatology. 1999;198(1):18-25.

PMID:
10026396
[PubMed - indexed for MEDLINE]
17.

[Juvenile hyaline fibromatosis (JHF)].

Lindemann J, Richter D, Mohr W, Zenkel M.

Laryngorhinootologie. 2001 Jan;80(1):43-6. German.

PMID:
11272247
[PubMed - indexed for MEDLINE]
18.

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.

El-Kamah GY, Fong K, El-Ruby M, Afifi HH, Clements SE, Lai-Cheong JE, Amr K, El-Darouti M, McGrath JA.

Br J Dermatol. 2010 Jul;163(1):213-5. doi: 10.1111/j.1365-2133.2010.09769.x. Epub 2010 Mar 17. No abstract available.

PMID:
20331448
[PubMed - indexed for MEDLINE]
19.

[Juvenile hyaline fibromatosis].

Mallet S, Boye T, Hesse S, Fournier B, Guennoc B, Carsuzaa F.

Ann Dermatol Venereol. 2010 May;137(5):364-8. doi: 10.1016/j.annder.2010.02.019. Epub 2010 Apr 2. French.

PMID:
20470917
[PubMed - indexed for MEDLINE]
20.

Exuberant juvenile hyaline fibromatosis in two patients.

Muniz ML, Lobo AZ, Machado MC, Valente NY, Kim CA, Lourenço SV, Nico MM.

Pediatr Dermatol. 2006 Sep-Oct;23(5):458-64.

PMID:
17014642
[PubMed - indexed for MEDLINE]

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