Maria Celeste M Ramirez
Overview
Explore the profile of Maria Celeste M Ramirez including associated specialties, affiliations and a list of published articles.
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8
Citations
273
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Recent Articles
1.
Martignetti J, Tian L, Li D, Ramirez M, Camacho-Vanegas O, Camacho S, et al.
Am J Hum Genet
. 2013 Jun;
92(6):1001-7.
PMID: 23731542
Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is...
2.
Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, et al.
EMBO Mol Med
. 2011 Feb;
3(4):208-21.
PMID: 21328543
Hyaline Fibromatosis Syndrome (HFS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane protein thought to be involved...
3.
Radbill B, Gupta R, Ramirez M, DiFeo A, Martignetti J, Alvarez C, et al.
Dig Dis Sci
. 2010 Jun;
56(2):406-16.
PMID: 20563750
Background And Aims: Matrix metalloproteinase-2 (MMP-2), a type IV collagenase secreted by activated hepatic stellate cells (HSCs), is upregulated in chronic liver disease and is considered a profibrotic mediator due...
4.
Deuquet J, Abrami L, DiFeo A, Ramirez M, Martignetti J, van der Goot F
Hum Mutat
. 2009 Feb;
30(4):583-9.
PMID: 19191226
Systemic hyalinosis is an autosomal recessive disease that encompasses two allelic syndromes, infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), which are caused by mutations in the CMG2 gene....
5.
Lindvall L, Kormeili T, Chen E, Ramirez M, Grum-Tokars V, Glucksman M, et al.
J Am Acad Dermatol
. 2008 Jan;
58(2):303-7.
PMID: 18222328
Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks...
6.
Mosig R, Dowling O, DiFeo A, Ramirez M, Parker I, Abe E, et al.
Hum Mol Genet
. 2007 Apr;
16(9):1113-23.
PMID: 17400654
The 'vanishing bone' or inherited osteolysis/arthritis syndromes represent a heterogeneous group of skeletal disorders characterized by mineralization defects of affected bones and joints. Differing in anatomical distribution, severity and associated...
7.
Antaya R, Cajaiba M, Madri J, Lopez M, Ramirez M, Martignetti J, et al.
Am J Dermatopathol
. 2007 Feb;
29(1):99-103.
PMID: 17284973
Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes...
8.
Shieh J, Swidler P, Martignetti J, Ramirez M, Balboni I, Kaplan J, et al.
Pediatrics
. 2006 Oct;
118(5):e1485-92.
PMID: 17043134
Objective: We sought to further characterize the phenotype and facilitate clinical recognition of systemic hyalinosis in children who present with chronic pain and progressive contractures in early childhood. Patients And...