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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 356 - 362
Journal Article
Journal Article
Lymphology, ISSN 0024-7766, 2016, Volume 49, Issue 2, pp. 57 - 72
Primary lymphedema is a rare inherited condition characterized by swelling of body tissues caused by accumulation of fluid, especially in the lower limbs. In... 
Primary lymphedema | Genotype-phenotype correlations | Genetic variations | Lymphoscintigraphy | Lymphedema genes | Next generation sequencing | Genetic screening | lymphoscintigraphy | PHYSIOLOGY | DISTICHIASIS SYNDROME | next generation sequencing | lymphedema genes | SECONDARY LYMPHEDEMA | GROWTH FACTOR-C | IMMUNOLOGY | MONOMAC SYNDROME | genetic screening | genetic variations | HEREDITARY LYMPHEDEMA | genotype-phenotype correlations | AUTOSOMAL-DOMINANT | MUTATIONS | TRANSCRIPTION FACTOR | RECEPTOR TYROSINE KINASE | MILROY DISEASE | Lymphedema - diagnostic imaging | Genetic Testing | Humans | Middle Aged | Child, Preschool | Infant | Male | Young Adult | Lymphedema - genetics | Tumor Suppressor Proteins - genetics | Hepatocyte Growth Factor - genetics | Kinesin - genetics | Adult | Female | Child | GATA2 Transcription Factor - genetics | Infant, Newborn | European Continental Ancestry Group - genetics | Connexins - genetics | Genotype | Forkhead Transcription Factors - genetics | Sequence Analysis, DNA | Vascular Endothelial Growth Factor C - genetics | Proto-Oncogene Proteins c-met - genetics | Phenotype | Adolescent | Italy | High-Throughput Nucleotide Sequencing | Mutation | SOXF Transcription Factors - genetics | Vascular Endothelial Growth Factor Receptor-3 - genetics | Calcium-Binding Proteins - genetics | Cohort Studies
Journal Article
Leukemia & Lymphoma, ISSN 1042-8194, 03/2016, Volume 57, Issue 3, pp. 520 - 536
Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective hematopoiesis, cytopenias, dysplasia and an increased risk of acute... 
bone marrow failure | clonal hematopoiesis | genetic predisposition | aplastic anemia | familial MDS/AML | Genetic predisposition | Bone marrow failure | Aplastic anemia | Clonal hematopoiesis | Familial MDS/AML | FAMILIAL PLATELET DISORDER | PRIMARY LYMPHEDEMA | SEVERE CONGENITAL NEUTROPENIA | SHWACHMAN-DIAMOND SYNDROME | FANCONI-ANEMIA | ACQUIRED APLASTIC-ANEMIA | ONCOLOGY | AUTOSOMAL-DOMINANT | STEM-CELL TRANSPLANTATION | HEMATOLOGY | BONE-MARROW FAILURE | Age Factors | Humans | Leukemia, Myeloid, Acute - epidemiology | Signal Recognition Particle - genetics | Male | Genetic Counseling | Incidence | Myelodysplastic Syndromes - prevention & control | Thrombocytopenia - genetics | Female | CCAAT-Enhancer-Binding Proteins - genetics | Genomics - methods | Nuclear Proteins - genetics | GATA2 Transcription Factor - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Leukemia, Myeloid, Acute - prevention & control | Myelodysplastic Syndromes - epidemiology | Syndrome | Haploinsufficiency | DEAD-box RNA Helicases - genetics | Myelodysplastic Syndromes - diagnosis | Leukemia, Myeloid, Acute - diagnosis | Thrombocytopenia - diagnosis | Disease Management | Myelodysplastic Syndromes - genetics | Core Binding Factor Alpha 2 Subunit - genetics | Population Surveillance | Leukemia, Myeloid, Acute - genetics | familial MDS | AML
Journal Article
Journal Article
Blood, ISSN 0006-4971, 01/2013, Volume 121, Issue 5, pp. 822 - 829
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2015, Volume 23, Issue 8, pp. 1085 - 1092
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2008, Volume 118, Issue 1, pp. 40 - 50
The lymphatic vascular system mediates fluid homeostasis, immune defense, and tumor metastasis. Only a handful of genes are known to affect the development of... 
MEDICINE, RESEARCH & EXPERIMENTAL | HYDROPS-FETALIS | MUTANT MICE | GENE | ANGIOGENESIS | ENDOTHELIAL-CELLS | TUMOR LYMPHANGIOGENESIS | GROWTH | RECEPTOR-LIKE-RECEPTOR | MICE LACKING | BLOOD | Neoplasms - metabolism | MAP Kinase Signaling System - physiology | Cell Proliferation | Homeodomain Proteins - metabolism | Male | Intracellular Signaling Peptides and Proteins - metabolism | Calcitonin Receptor-Like Protein | Lymphatic Diseases - genetics | Lymphedema - genetics | Neoplasm Metastasis | Neoplasms - genetics | Embryo Loss - pathology | Tumor Suppressor Proteins - genetics | Female | Membrane Proteins - metabolism | Embryo Loss - genetics | Intracellular Signaling Peptides and Proteins - genetics | Receptor Activity-Modifying Protein 2 | Lymphatic Vessels - embryology | Tumor Suppressor Proteins - metabolism | Lymphedema - pathology | Endothelial Cells - metabolism | Membrane Proteins - genetics | Embryonic Development - physiology | Receptors, Calcitonin | Adrenomedullin - metabolism | Homeodomain Proteins - genetics | Adrenomedullin - genetics | Pregnancy | Neovascularization, Physiologic - physiology | Lymphatic Diseases - metabolism | Animals | Homeostasis - physiology | Lymphatic Vessels - pathology | Lymphatic Diseases - pathology | Receptor Activity-Modifying Proteins | Mice | Endothelial Cells - pathology | Neoplasms - pathology | Lymphedema - metabolism | Usage | Cellular signal transduction | Genetic engineering | Genetic aspects | Research | Structure | Methods | Signal peptides
Journal Article
Journal Article