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	1.	Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. [electronic resource] by Deuquet, Julie Abrami, Laurence Difeo, Analisa Ramirez, Maria Celeste M Martignetti, John A van der Goot, F Gisou Producer: 20090706 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. [electronic resource] by Antaya, Richard J Cajaiba, Mariana M Madri, Joseph Lopez, Maria A Ramirez, Maria Celeste M Martignetti, John A Reyes-Múgica, Miguel Producer: 20070313 In: The American Journal of dermatopathology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Infantile systemic hyalinosis: Case report and review of the literature. [electronic resource] by Lindvall, Lisa E Kormeili, Tanya Chen, Elaine Ramirez, Maria Celeste M Grum-Tokars, Valerie Glucksman, Marc J Martignetti, John A Zaragoza, Michael V Dyson, Senait W Producer: 20080208 In: Journal of the American Academy of Dermatology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. [electronic resource] by Deuquet, Julie Lausch, Ekkehart Guex, Nicolas Abrami, Laurence Salvi, Suzanne Lakkaraju, Asvin Ramirez, Maria Celeste M Martignetti, John A Rokicki, Dariusz Bonafe, Luisa Superti-Furga, Andrea van der Goot, Françoise G Producer: 20110805 In: EMBO molecular medicine vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Loss of matrix metalloproteinase-2 amplifies murine toxin-induced liver fibrosis by upregulating collagen I expression. [electronic resource] by Radbill, Brian D Gupta, Ritu Ramirez, Maria Celeste M DiFeo, Analisa Martignetti, John A Alvarez, Carlos E Friedman, Scott L Narla, Goutham Vrabie, Raluca Bowles, Robert Saiman, Yedidya Bansal, Meena B Producer: 20110311 In: Digestive diseases and sciences vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). [electronic resource] by Shieh, Joseph T C Swidler, Petra Martignetti, John A Ramirez, Maria Celeste M Balboni, Imelda Kaplan, Julie Kennedy, Jeanette Abdul-Rahman, Omar Enns, Gregory M Sandborg, Christy Slavotinek, Anne Hoyme, H Eugene Producer: 20061114 In: Pediatrics vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. [electronic resource] by Mosig, Rebecca A Dowling, Oonagh DiFeo, Analisa Ramirez, Maria Celeste M Parker, Ian C Abe, Etsuko Diouri, Janane Aqeel, Aida Al Wylie, James D Oblander, Samantha A Madri, Joseph Bianco, Paolo Apte, Suneel S Zaidi, Mone Doty, Stephen B Majeska, Robert J Schaffler, Mitchell B Martignetti, John A Producer: 20070820 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. [electronic resource] by Martignetti, John A Tian, Lifeng Li, Dong Ramirez, Maria Celeste M Camacho-Vanegas, Olga Camacho, Sandra Catalina Guo, Yiran Zand, Dina J Bernstein, Audrey M Masur, Sandra K Kim, Cecilia E Otieno, Frederick G Hou, Cuiping Abdel-Magid, Nada Tweddale, Ben Metry, Denise Fournet, Jean-Christophe Papp, Eniko McPherson, Elizabeth W Zabel, Carrie Vaksmann, Guy Morisot, Cyril Keating, Brendan Sleiman, Patrick M Cleveland, Jeffrey A Everman, David B Zackai, Elaine Hakonarson, Hakon Producer: 20140109 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)