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Items: 1 to 20 of 144

1.

Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).

Shieh JT, Swidler P, Martignetti JA, Ramirez MC, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Sandborg C, Slavotinek A, Hoyme HE.

Pediatrics. 2006 Nov;118(5):e1485-92. Epub 2006 Oct 16.

PMID:
17043134
2.

Infantile systemic hyalinosis in identical twins.

Koonuru MK, Venugopal SP.

Intractable Rare Dis Res. 2015 Nov;4(4):210-3. doi: 10.5582/irdr.2015.01027.

3.

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
4.

Infantile systemic hyalinosis in a black infant.

Sahn EE, Salinas CF, Sens MA, Key J, Swiger FK Jr, Holbrook KA.

Pediatr Dermatol. 1994 Mar;11(1):52-60. Review.

PMID:
7513419
5.

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A.

Am J Med Genet. 2001 Apr 22;100(2):122-9.

PMID:
11298373
6.
7.

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.

8.

Infantile systemic hyalinosis with early thyroid dysfunction.

Pirgon O, Atabek ME, Esen HH, Cangul H.

J Pediatr Endocrinol Metab. 2007 Jul;20(7):833-6.

PMID:
17849746
9.

Infantile systemic hyalinosis presenting as intractable infantile diarrhea.

Al-Mubarak L, Al-Makadma A, Al-Khenaizan S.

Eur J Pediatr. 2009 Mar;168(3):363-5. doi: 10.1007/s00431-008-0760-8. Epub 2008 Jun 18. Review.

PMID:
18563441
11.

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
12.

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.

13.

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
14.
15.

Infantile systemic hyalinosis.

Al-Najjadah I, Bang RL, Ghoneim IE, Kanjoor JR.

J Craniofac Surg. 2003 Sep;14(5):719-23.

PMID:
14501336
16.

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
17.

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
18.

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.

19.

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
20.

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

Al-Mayouf SM, AlMehaidib A, Bahabri S, Shabib S, Sakati N, Teebi AS.

Clin Exp Rheumatol. 2005 Sep-Oct;23(5):717-20.

PMID:
16173255
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