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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
Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5121 - 5135
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 09/2014, Volume 166, Issue 3, pp. 257 - 261
Journal Article
Neuropharmacology, ISSN 0028-3908, 05/2014, Volume 80, pp. 83 - 94
Cognitive disorders (CDs) are a heterogeneous group of disorders for which the genetic foundations are rapidly being uncovered. The large number of... 
Genetic | Chromatin | Intellectual disability | Cognitive disorder | Epigenetic | Mutation | RUBINSTEIN-TAYBI-SYNDROME | BINDING-PROTEIN | CAMP-RESPONSIVE ELEMENT | TRANSCRIPTIONAL COACTIVATOR | WOLF-HIRSCHHORN-SYNDROME | NEUROSCIENCES | DE-NOVO MUTATIONS | LINKED MENTAL-RETARDATION | SOTOS-SYNDROME | PHARMACOLOGY & PHARMACY | CAUSE WEAVER SYNDROME | Epigenesis, Genetic | Humans | Brain - enzymology | Cognition Disorders - metabolism | Foot Deformities, Congenital - genetics | Foot Deformities, Congenital - metabolism | Cognition | Intellectual Disability - metabolism | Brain - metabolism | Chromosomes, Human, Pair 9 - genetics | Heart Defects, Congenital - genetics | Micrognathism - metabolism | Facies | Neurons - metabolism | Hypotrichosis - metabolism | Neck - physiopathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Micrognathism - physiopathology | Chromosome Deletion | Micrognathism - genetics | Chromatin Assembly and Disassembly | Neck - abnormalities | Abnormalities, Multiple - physiopathology | Chromosomes, Human, Pair 9 - metabolism | Hand Deformities, Congenital - physiopathology | Models, Biological | Neurons - enzymology | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Abnormalities, Multiple - metabolism | Face - abnormalities | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Cognition Disorders - etiology | Foot Deformities, Congenital - physiopathology | Hand Deformities, Congenital - metabolism | Craniofacial Abnormalities - metabolism | Gene Expression Regulation | Cognition Disorders - genetics | Nerve Tissue Proteins - genetics | Face - physiopathology | Intellectual Disability - physiopathology | Nerve Tissue Proteins - metabolism | Animals | Hand Deformities, Congenital - genetics | Neurosciences | Genetic aspects | Genetic transcription | Gene mutations | Genes
Journal Article
Human Genetics, ISSN 0340-6717, 6/2015, Volume 134, Issue 6, pp. 553 - 568
Journal Article
European Journal of Dermatology, ISSN 1167-1122, 05/2012, Volume 22, Issue 3, pp. 299 - 309
Basal cell carcinoma (BCC) is the commonest cancer in humans. Predisposing factors reflect common genetic variations and environmental influences in most... 
Xeroderma pigmentosum | Folliculo-sebaceus unit | Basal cell carcinoma | Gorlin syndrome | Bazex-Dupré-Christol syndrome | Epidermal nevus syndrome | epidermal nevus syndrome | EPIDERMODYSPLASIA-VERRUCIFORMIS | CARTILAGE-HAIR HYPOPLASIA | xeroderma pigmentosum | DUPRE-CHRISTOL-SYNDROME | COARSE SPARSE HAIR | Bazex-Dupre-Christol syndrome | folliculo-sebaceus unit | SCHULZ-PASSARGE SYNDROME | DERMATOLOGY | FOLLICULAR HAMARTOMA SYNDROME | XERODERMA-PIGMENTOSUM | NEVUS SEBACEUS | basal cell carcinoma | ROTHMUND-THOMSON-SYNDROME | PHAKOMATOSIS-PIGMENTOKERATOTICA | Genetic Testing | Carcinoma, Basal Cell - genetics | Xeroderma Pigmentosum - genetics | Humans | Hypotrichosis - genetics | Rothmund-Thomson Syndrome - epidemiology | Carcinoma, Basal Cell - epidemiology | Carcinoma, Skin Appendage - genetics | Skin Diseases, Genetic - genetics | Nevus, Sebaceous of Jadassohn - epidemiology | Skin Diseases, Genetic - epidemiology | Werner Syndrome - genetics | Histiocytoma, Benign Fibrous - epidemiology | Facial Dermatoses - epidemiology | Histiocytoma, Benign Fibrous - genetics | Hamartoma Syndrome, Multiple - genetics | Facial Dermatoses - genetics | Hypotrichosis - epidemiology | Comorbidity | Cyanosis - epidemiology | Cyanosis - genetics | Basal Cell Nevus Syndrome - epidemiology | Xeroderma Pigmentosum - epidemiology | DNA Replication | Skin Neoplasms - epidemiology | Werner Syndrome - epidemiology | Hamartoma Syndrome, Multiple - epidemiology | Rothmund-Thomson Syndrome - genetics | Skin Neoplasms - genetics | Carcinoma, Skin Appendage - epidemiology | Nevus, Sebaceous of Jadassohn - genetics | Basal Cell Nevus Syndrome - genetics | Mutation
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1754 - 1762
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis.... 
BAF complex | exome analysis | SMARCA2 | ARID1B | facial dysmorphology analysis | COFFIN-SIRIS SYNDROME | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | CLINICAL EXOME | Face - abnormalities | Humans | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Foot Deformities, Congenital - genetics | Male | Craniofacial Abnormalities - physiopathology | Hand Deformities, Congenital - diagnosis | Hypotrichosis - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Muscular Atrophy - physiopathology | Facies | Foot Deformities, Congenital - physiopathology | Muscular Atrophy - diagnosis | Female | Nuclear Proteins - genetics | Neck - physiopathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Micrognathism - physiopathology | Micrognathism - genetics | Foot Deformities, Congenital - diagnosis | Muscular Atrophy - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Exome - genetics | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Mutation | Pathology, Molecular | Genetic research | Genes | Genetic aspects
Journal Article
Nature, ISSN 0028-0836, 12/2008, Volume 456, Issue 7222, pp. 643 - 647
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1221 - 1237
Journal Article
Nature, ISSN 0028-0836, 04/2010, Volume 464, Issue 7291, pp. 1043 - 1047
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization(1,2). Using genetic linkage... 
AUTOSOMAL DOMINANT INHERITANCE | IN-VITRO | ANDROGENETIC ALOPECIA | XENOPUS | PROTEIN-COUPLED RECEPTOR | MULTIDISCIPLINARY SCIENCES | NEURAL-TUBE | DEPENDENT MANNER | EXPRESSION | HAIR-FOLLICLE | SPEMANN ORGANIZER | Cell Proliferation | Membrane Glycoproteins - metabolism | Xenopus Proteins - genetics | Humans | Membrane Glycoproteins - chemistry | Hypotrichosis - genetics | Hair - metabolism | Neurons - cytology | Stem Cells - cytology | Stem Cells - metabolism | Wnt Proteins - metabolism | Hair Follicle - pathology | Point Mutation - genetics | Wnt Proteins - genetics | Cell Differentiation | Neurons - metabolism | Xenopus laevis - genetics | Hypotrichosis - metabolism | Spinal Cord - cytology | Cell Line | Xenopus laevis - embryology | Signal Transduction | Mutant Proteins - genetics | Intracellular Signaling Peptides and Proteins | Genes, Reporter - genetics | Mutant Proteins - metabolism | Chromosome Mapping | Chick Embryo | beta Catenin - metabolism | Membrane Glycoproteins - genetics | Membrane Proteins | Animals | Xenopus Proteins - deficiency | Scalp | Xenopus laevis - metabolism | Hair Follicle - metabolism | Hair Follicle - growth & development | Xenopus Proteins - metabolism | Mice | Skin | Chromosomes, Human, Pair 18 - genetics | Hypotrichosis - pathology | Wnt Proteins - antagonists & inhibitors | Genes, Dominant - genetics | Hair - growth & development | Membrane Glycoproteins - deficiency | Embryonic development | Alopecia | Baldness | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Research | Wnt proteins | Risk factors | Mutation | Hair loss | Genes | Human | Hair | Mutations | Membranes | Inhibitors | Activation | Signalling | hair follicle | APCDD1 | hereditary hypotrichosis | Wnt inhibitor
Journal Article
Journal Article