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Items: 1 to 20 of 136

1.

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
2.

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
3.

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
4.

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.

5.

[Infantile systemic hyalinosis: a case report and literature review].

Lu J, Li J, Lin FY.

Zhonghua Er Ke Za Zhi. 2016 Dec 2;54(12):946-949. doi: 10.3760/cma.j.issn.0578-1310.2016.12.015. Review. Chinese.

PMID:
27938598
6.

Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.

Jaouad IC, Guaoua S, Hajjioui A, Sefiani A.

J Med Case Rep. 2014 Sep 3;8:291. doi: 10.1186/1752-1947-8-291.

7.

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.

8.

[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
9.

[Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis].

Brandão FV, Silva CM, Gontijo B, Guedes AC.

An Bras Dermatol. 2009 Nov-Dec;84(6):677-9. Portuguese.

10.

Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.

Rahvar M, Teng J, Kim J.

Am J Dermatopathol. 2016 May;38(5):e60-3. doi: 10.1097/DAD.0000000000000467. Review.

PMID:
26885603
11.

Infantile systemic hyalinosis: a case report with a novel mutation.

Al Sinani S, Al Murshedy F, Abdwani R.

Oman Med J. 2013 Jan;28(1):53-5. doi: 10.5001/omj.2013.12.

12.

Infantile systemic hyalinosis or juvenile hyaline fibromatosis?

Urbina F, Sazunic I, Murray G.

Pediatr Dermatol. 2004 Mar-Apr;21(2):154-9.

PMID:
15078358
13.

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
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
15.

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.

16.

Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding.

Raja K, Khan MA, Mubarak M, Abbas Z, Luck NH, Hassan SM.

J Pak Med Assoc. 2013 Mar;63(3):396-8.

17.

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.

Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J.

Clin Exp Dermatol. 2015 Aug;40(6):636-9. doi: 10.1111/ced.12616. Epub 2015 Mar 7.

PMID:
25754064
18.

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
19.
20.

Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report.

Krasuska-Sławińska E, Polnik D, Rokicki D, Koeber B.

J Oral Maxillofac Surg. 2015 Oct;73(10):1962.e1-5. doi: 10.1016/j.joms.2015.06.176. Epub 2015 Jul 8.

PMID:
26207694

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