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Year Number of Results
2011 1
2012 1
2014 1
2015 1
2016 1
2017 1
2018 2
2019 1
2020 1
2021 1
2023 1
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11 results

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Page 1
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A. Cozma C, et al. Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5. Orphanet J Rare Dis. 2019. PMID: 31455396 Free PMC article.
BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. ...The associated clinical data are consistent with the previous hypothesis of non-truncati …
BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are …
Infantile systemic hyalinosis: Variable grades of severity.
Al Kaissi A, Hilmi M, Betadolova Z, Bouchoucha S, Trofimova S, Shboul M, Rustamov G, Dwera W, Sigl K, Kenis V, Kircher SG. Al Kaissi A, et al. Afr J Paediatr Surg. 2021 Oct-Dec;18(4):224-230. doi: 10.4103/ajps.AJPS_162_20. Afr J Paediatr Surg. 2021. PMID: 34341308 Free PMC article.
Interestingly, in the mild and the moderate types of ISH, we observed undescribed combination of asymptomatic skin and skeletal abnormalities. ...
Interestingly, in the mild and the moderate types of ISH, we observed undescribed combination of asymptomatic skin and skeletal abnor …
Juvenile hyaline fibromatosis: a case report.
Mestiri S, Labaied N, Mama N, Ayadi A, Ladib M, Sriha B, Krifa H, Mokni M. Mestiri S, et al. Pathologica. 2014 Jun;106(2):70-2. Pathologica. 2014. PMID: 25291871
Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.
Rahvar M, Teng J, Kim J. Rahvar M, et al. Am J Dermatopathol. 2016 May;38(5):e60-3. doi: 10.1097/DAD.0000000000000467. Am J Dermatopathol. 2016. PMID: 26885603 Review.
JHF and infantile systemic hyalinosis form a clinical spectrum with higher mortality that is typically observed in systemic cases. Here, the authors present a case of systemic hyalinosis with a heterozygous mutation in CMG2 that resulted in improved survival....
JHF and infantile systemic hyalinosis form a clinical spectrum with higher mortality that is typically observed in systemic cases. He …
Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.
Gao Y, Bai J, Wang J, Liu X. Gao Y, et al. Mol Med Rep. 2018 Oct;18(4):4004-4008. doi: 10.3892/mmr.2018.9421. Epub 2018 Aug 22. Mol Med Rep. 2018. PMID: 30152846
Hyaline fibromatosis syndrome (HFS; MIM 228600) is a rare autosomal recessive disorder characterized by the abnormal growth of hyalinized fibrous tissue at subcutaneous regions on the scalp, ears and neck. ...Numerous painless and variable-sized subcutaneous …
Hyaline fibromatosis syndrome (HFS; MIM 228600) is a rare autosomal recessive disorder characterized by the abnormal gr …
Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report.
Owlia F, Navabazam A, Akhavan-Karbasi MH, Derakhshan Barjoei MM. Owlia F, et al. BMC Pediatr. 2023 Oct 13;23(1):506. doi: 10.1186/s12887-023-04344-z. BMC Pediatr. 2023. PMID: 37828451 Free PMC article.
In this case, the presence of multiple papulonodular cutaneous lesions is a newly observed aspect that has rarely been reported in the existing literature. ...
In this case, the presence of multiple papulonodular cutaneous lesions is a newly observed aspect that has rarely been reported in th …
Case report: Infantile systemic hyalinosis: a dental perspective.
Olczak-Kowalczyk D, Krasuska-Slawinska E, Rokicki D, Pronicki M. Olczak-Kowalczyk D, et al. Eur Arch Paediatr Dent. 2011 Aug;12(4):224-6. doi: 10.1007/BF03262812. Eur Arch Paediatr Dent. 2011. PMID: 21806909
Despite the surgical intervention no improvement in oral hygiene was observed. CONCLUSIONS: Surgical treatment of the gingival hypertrophy was the treatment of choice....
Despite the surgical intervention no improvement in oral hygiene was observed. CONCLUSIONS: Surgical treatment of the gingival hypert …
A molecular biopsy test based on arteriolar under-hyalinosis reflects increased probability of rejection related to under-immunosuppression.
Einecke G, Reeve J, Halloran PF. Einecke G, et al. Am J Transplant. 2018 Apr;18(4):821-831. doi: 10.1111/ajt.14532. Epub 2017 Nov 10. Am J Transplant. 2018. PMID: 28985016 Free article.
Using gene expression data from 562 indication biopsies, we developed a molecular classifier for predicting the expected ah lesions (M(ah) ) at a particular TxBx. M(ah) -scores increased linearly with log(TxBx), but some biopsies had lower scores than expecte …
Using gene expression data from 562 indication biopsies, we developed a molecular classifier for predicting the expected ah lesions ( …
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. Fong K, et al. Clin Exp Dermatol. 2012 Aug;37(6):635-8. doi: 10.1111/j.1365-2230.2011.04287.x. Epub 2012 Feb 2. Clin Exp Dermatol. 2012. PMID: 22300424
In silico analysis of this sequence showed that it changed predicted cryptic splicing, leading to out-of-frame transcripts and little, if any, functional protein. ...
In silico analysis of this sequence showed that it changed predicted cryptic splicing, leading to out-of-frame transcripts and little …
11 results