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Items: 1 to 20 of 113

1.

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.

2.

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
3.

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
4.

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.

5.

Juvenile non-hyaline fibromatosis: juvenile hyaline fibromatosis without prominent hyaline changes.

Anadolu RY, Oskay T, Ozsoy N, Erdem C.

J Cutan Pathol. 2005 Mar;32(3):235-9.

PMID:
15701086
6.

[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
7.

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
8.

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.

9.

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.

10.

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Haidar Z, Temanni R, Chouery E, Jitesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Mégarbané A.

BMC Genet. 2017 Jan 19;18(1):3. doi: 10.1186/s12863-017-0471-0. Erratum in: BMC Genet. 2017 Feb 1;18(1):9.

11.

[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
12.

Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.

Mantri MD, Pradeep MM, Kalpesh PO, Pranavsinh RJ.

Indian J Dermatol. 2016 Sep-Oct;61(5):580. doi: 10.4103/0019-5154.190129.

13.

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
14.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.

Nofal A, Sanad M, Assaf M, Nofal E, Nassar A, Almokadem S, Attwa E, Elmosalamy K.

J Am Acad Dermatol. 2009 Oct;61(4):695-700. doi: 10.1016/j.jaad.2009.01.039. Epub 2009 Apr 2.

PMID:
19344977
15.

[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.

16.

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
17.

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.

18.

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
19.

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
20.

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

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