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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
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2013, Volume 68, Issue 2, pp. 189.e1 - 189.e21
Cutaneous findings are not uncommonly a concomitant finding in patients afflicted with gastrointestinal (GI) diseases. The dermatologic manifestations may... 
Cowden syndrome | hereditary and nonhereditary gastrointestinal malignancies | Muir-Torre syndrome | gastrointestinal disorders | hamartomatous polyposis syndrome | Cronkhite-Canada syndrome | Bannayan-Riley-Ruvalcaba syndrome | cutaneous manifestations | Peutz-Jeghers syndrome | Lynch syndrome | paraneoplastic syndrome | PEUTZ-JEGHERS-SYNDROME | RILEY-RUVALCABA-SYNDROME | HEREDITARY COLORECTAL-CANCER | DERMATOLOGY | PERIANAL PAGETS-DISEASE | LESER-TRELAT SIGN | MUIR-TORRE-SYNDROME | NECROLYTIC MIGRATORY ERYTHEMA | FAMILIAL ADENOMATOUS POLYPOSIS | PARANEOPLASTICA BAZEX-SYNDROME | MALIGNANT ACANTHOSIS NIGRICANS | Paraneoplastic Syndromes - genetics | Dermatomyositis - genetics | Carcinoma, Basal Cell - genetics | Colorectal Neoplasms - genetics | Humans | Hypotrichosis - genetics | Gastrointestinal Neoplasms - complications | Acanthosis Nigricans - genetics | Gastrointestinal Neoplasms - pathology | Skin Diseases, Genetic - etiology | Adenomatous Polyposis Coli - genetics | Histiocytoma, Benign Fibrous - genetics | PTEN Phosphohydrolase - genetics | Hamartoma Syndrome, Multiple - genetics | Necrolytic Migratory Erythema - diagnosis | Necrolytic Migratory Erythema - genetics | Intestinal Polyposis - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Malignant Carcinoid Syndrome - genetics | Gastrointestinal Diseases - complications | Peutz-Jeghers Syndrome - genetics | Gastrointestinal Diseases - genetics | Paraneoplastic Syndromes - complications | Hamartoma Syndrome, Multiple - diagnosis | Skin Neoplasms - genetics | Skin Neoplasms - secondary | Colorectal Neoplasms, Hereditary Nonpolyposis - etiology | Mutation
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2017, Volume 217, Issue 5, pp. 512 - 521
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the... 
Obstetrics and Gynecology | BRCA | risk reduction | screening | ovarian cancer | high risk | endometrial cancer | hereditary cancer | cervical cancer | Lynch syndrome | BRCA2 MUTATION CARRIERS | LI-FRAUMENI SYNDROME | LYNCH-SYNDROME | COLORECTAL-CANCER SYNDROME | PEUTZ-JEGHERS-SYNDROME | RANDOMIZED-TRIAL | REDUCING SALPINGO-OOPHORECTOMY | FAMILIAL OVARIAN-CANCER | OBSTETRICS & GYNECOLOGY | GERMLINE MUTATIONS | Genetic Testing | DNA Polymerase III - genetics | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Humans | Li-Fraumeni Syndrome - diagnosis | DNA Mismatch Repair - genetics | Tumor Suppressor Protein p53 - genetics | Genital Neoplasms, Female - diagnosis | Li-Fraumeni Syndrome - genetics | Epithelial Cell Adhesion Molecule - genetics | Genes, BRCA2 | Female | RNA Helicases - genetics | Lynch Syndrome II - genetics | Neoplastic Syndromes, Hereditary - genetics | Genes, BRCA1 | Genital Neoplasms, Female - genetics | Hereditary Breast and Ovarian Cancer Syndrome - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Hamartoma Syndrome, Multiple - genetics | Fanconi Anemia Complementation Group Proteins - genetics | Protein-Serine-Threonine Kinases - genetics | Neoplastic Syndromes, Hereditary - diagnosis | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Peutz-Jeghers Syndrome - genetics | Hamartoma Syndrome, Multiple - diagnosis | MutL Protein Homolog 1 - genetics | Peutz-Jeghers Syndrome - diagnosis | Lynch Syndrome II - diagnosis | Mismatch Repair Endonuclease PMS2 - genetics | Gene mutations | Endometrial cancer | Diagnosis | Cervical cancer | Genetic screening | Cancer | Ovarian cancer
Journal Article
Journal Article
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 02/2016, Volume 74, Issue 2, pp. 231 - 231
There are a significant number of diseases and treatment considerations of considerable importance relating to the skin and renal systems. This emphasizes the... 
genetic | nephrology | dermatology | autoimmune | genodermatoses | inflammatory | nephrocutaneous | Uterine Neoplasms - therapy | Skin Diseases - genetics | Tuberous Sclerosis - complications | Beckwith-Wiedemann Syndrome - therapy | Fabry Disease - genetics | Humans | Genetic Diseases, Inborn - genetics | von Hippel-Lindau Disease - complications | Genetic Diseases, Inborn - therapy | Beckwith-Wiedemann Syndrome - genetics | Kidney Diseases - genetics | Nail-Patella Syndrome - therapy | Neurofibromatosis 1 - therapy | Neoplastic Syndromes, Hereditary | Beckwith-Wiedemann Syndrome - complications | Leiomyomatosis - complications | Leiomyomatosis - therapy | Birt-Hogg-Dube Syndrome - complications | Turner Syndrome - complications | Turner Syndrome - therapy | Neurofibromatosis 1 - genetics | Uterine Neoplasms - genetics | von Hippel-Lindau Disease - therapy | Hamartoma Syndrome, Multiple - genetics | Skin Neoplasms - therapy | Nail-Patella Syndrome - genetics | Fabry Disease - complications | von Hippel-Lindau Disease - genetics | Hamartoma Syndrome, Multiple - complications | Birt-Hogg-Dube Syndrome - genetics | Tuberous Sclerosis - genetics | Tuberous Sclerosis - therapy | Skin Neoplasms - complications | Birt-Hogg-Dube Syndrome - therapy | Hamartoma Syndrome, Multiple - therapy | Skin Neoplasms - genetics | Neurofibromatosis 1 - complications | Uterine Neoplasms - complications | Nail-Patella Syndrome - complications | Turner Syndrome - genetics | Fabry Disease - therapy | Mutation | Leiomyomatosis - genetics
Journal Article
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 25, Issue 1, pp. 207 - 220
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 4, pp. 609 - 622
Journal Article