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Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, Issue 4, pp. 255 - 263
Journal Article
12/2010
Breast hamartoma is a rare tumor that has been reported only thrice in a male breast. The pediatric age group is seldom involved. We present a case of breast... 
tumors | Breast | hamartoma
Web Resource
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 42 - 56
Journal Article
Epilepsia, ISSN 0013-9580, 12/2018, Volume 59, Issue 12, pp. 2284 - 2295
Journal Article
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2013, Volume 133, Issue 9, pp. 2229 - 2236
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in , , and have been described... 
MC1R | VARIANTS | RAS | BRAF MUTATIONS | HIGH-FREQUENCY | PHENOTYPE | NEUROLOGICALLY ASYMPTOMATIC CHILDREN | ASSOCIATION | REGISTRY | MOSAICISM | DERMATOLOGY | Meningeal Neoplasms - epidemiology | Prevalence | Nevus, Pigmented - epidemiology | Humans | Child, Preschool | Male | Neurocutaneous Syndromes - congenital | Meningioma - genetics | Mutation, Missense - genetics | Loss of Heterozygosity - genetics | Hamartoma - pathology | Young Adult | Hamartoma - genetics | Nevus, Pigmented - genetics | Meningioma - epidemiology | Zygote | Female | Genetic Predisposition to Disease - epidemiology | Neurocutaneous Syndromes - epidemiology | Child | Melanosis - epidemiology | Melanosis - genetics | Neurocutaneous Syndromes - genetics | Genetic Predisposition to Disease - genetics | Meningeal Neoplasms - genetics | Membrane Proteins - genetics | Central Nervous System Neoplasms - genetics | Risk Factors | Hamartoma - epidemiology | Central Nervous System Neoplasms - epidemiology | Melanosis - congenital | Skin Neoplasms - epidemiology | Nevus, Pigmented - congenital | Magnetic Resonance Imaging | Meningioma - pathology | Central Nervous System Neoplasms - pathology | GTP Phosphohydrolases - genetics | Skin Neoplasms - congenital | Skin Neoplasms - genetics | Adolescent | Mosaicism | Meningeal Neoplasms - pathology | Index Medicus | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 661 - 676
Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development.... 
ANEMIA TYPE-II | TO-MESENCHYMAL TRANSITION | UNFOLDED PROTEIN RESPONSE | ALVEOLAR EPITHELIAL-CELLS | HAMARTOMA-TUMOR-SYNDROME | GENETICS & HEREDITY | INTEGRATIVE GENOMICS VIEWER | ENDOPLASMIC-RETICULUM STRESS | VESICLE TRAFFICKING | DNA-SEQUENCING DATA | SYNDROME PLEASE STAND | Cell Proliferation | Prognosis | Follow-Up Studies | Vesicular Transport Proteins - metabolism | Hamartoma Syndrome, Multiple - metabolism | Humans | Middle Aged | Male | Germ-Line Mutation - genetics | Immunoenzyme Techniques | Vesicular Transport Proteins - physiology | Young Adult | Adult | Female | Real-Time Polymerase Chain Reaction | Hamartoma Syndrome, Multiple - genetics | Hamartoma Syndrome, Multiple - pathology | RNA, Messenger - genetics | Vesicular Transport Proteins - genetics | Cells, Cultured | Genotype | Reverse Transcriptase Polymerase Chain Reaction | Cell Adhesion | Blotting, Western | Mice, Knockout | Thyroid Neoplasms - genetics | Exome - genetics | Phenotype | Animals | Pedigree | Endoplasmic Reticulum Stress | Adolescent | Fluorescent Antibody Technique | Heterozygote | Aged | High-Throughput Nucleotide Sequencing | Mice | Apoptosis | Cell Movement | Thyroid Neoplasms - metabolism | Thyroid Neoplasms - pathology | Genetic aspects | Thyroid cancer | Multiple hamartoma syndrome | Genetic variation | Health aspects | Oncogenes | Genotype & phenotype | Mutation | Endoplasmic reticulum | Index Medicus
Journal Article