M. Ramirez

发表

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum

J. Martignetti, A. Difeo, L. Abrami, 2009, Human mutation.

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Rui Zhang, R. DeFronzo, J. Martignetti, 2013, American journal of human genetics.

Loss of Matrix Metalloproteinase-2 Amplifies Murine Toxin-Induced Liver Fibrosis by Upregulating Collagen I Expression

S. Friedman, J. Martignetti, C. E. Alvarez, 2011, Digestive Diseases and Sciences.

Torg–Winchester syndrome: lack of efficacy of pamidronate therapy

J. Martignetti, A. Difeo, S. Phadke, 2007, Clinical dysmorphology.

Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.

J. Martignetti, A. Difeo, S. Doty, 2007, Human molecular genetics.

Infantile systemic hyalinosis: Case report and review of the literature.

J. Martignetti, M. Glucksman, V. Grum-Tokars, 2008, Journal of the American Academy of Dermatology.

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

J. Martignetti, H. Kayserili, A. Difeo, 2003, American journal of human genetics.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.

J. Martignetti, R. Antaya, M. Reyes-Múgica, 2007, The American Journal of dermatopathology.

Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)

C. Sandborg, H. Hoyme, J. Martignetti, 2006, Pediatrics.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

R. Desnick, R. Phelps, A. Johansson, 2006, American journal of human genetics.

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

V. Schramm, S. Mehta, J. Martignetti, 2012, American journal of human genetics.

Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

N. Guex, J. Martignetti, L. Abrami, 2011, EMBO molecular medicine.

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Rui Zhang, R. DeFronzo, J. Martignetti, 2013, American journal of human genetics.