Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis

Autosomal recessive osteopetrosis: mechanisms and treatments

(2021) Sara Penna et al.   Disease Models & Mechanisms

One Disease, Many Genes: Implications for the Treatment of Osteopetroses

(2019) Sara Penna et al.   Frontiers in Endocrinology

Hematopoietic Stem Cell-Targeted Neonatal Gene Therapy with a Clinically Applicable Lentiviral Vector Corrects Osteopetrosis in oc/oc Mice

(2019) Henrik Löfvall et al.   HUMAN GENE THERAPY

Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning

(2018) Bella Shadur et al.   PEDIATRIC BLOOD & CANCER

Genetics of Osteopetrosis

(2018) Eleonora Palagano et al.   Current Osteoporosis Reports

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

(2016) O. Shamriz et al.   CLINICAL GENETICS

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds

(2016) Natalia Simanovsky et al.   PEDIATRIC BLOOD & CANCER

Hematopoietic stem cell transplantation for infantile osteopetrosis

(2015) P. J. Orchard et al.   BLOOD

Unmistakable Morphology? Infantile Malignant Osteopetrosis Resembling Juvenile Myelomonocytic Leukemia in Infants

(2015) Anne Strauss et al.   JOURNAL OF PEDIATRICS

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

(2012) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

(2009) Elena A Bliznetz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS