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1
المؤلفون: Theodore D, Zaki, Lynn M, Boyden, Erin, Mathes, Rong-Hua, Hu, Jing, Zhou, Erin, Loring, Jeffrey, North, Vikash, Oza, Keith A, Choate
المصدر: Cutis. 110(1)
مصطلحات موضوعية: Keratoderma, Palmoplantar, Diffuse, Papilloma, Keratoderma, Palmoplantar, Keratin-16, Mutation, Humans, Keratosis
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2
المؤلفون: Jonathan L. Levinsohn, Leonard M. Milstone, Keith A. Choate, Nareh M. Burgren, Shayan Cheraghlou, Rong Hua Hu, Corey Saraceni, Jing Zhou, Ivy Ren, Carol Nelson-Williams, Richard P. Lifton, Margarita Larralde, Ryan Fan, Erin Loring, Lionel Bercovitch, Lynn M. Boyden, Amy S. Paller, Theodore Zaki, Qisi Sun, Brittany G. Craiglow, Charlie Tian
المصدر: JAMA Dermatol
مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, Genetic heterogeneity, Ichthyosis, Dermatology, Odds ratio, Genomics, Skin infection, medicine.disease, Cohort Studies, Phenotype, Internal medicine, Cohort, Medicine, Humans, Female, business, Exome sequencing, Ichthyosis, Lamellar, Genetic association, Cohort study, Original Investigation
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3
المؤلفون: Ariana Kariminejad, Keith A. Choate, John A. McGrath, Alyson Guy, Mahtab Naji, Leila Youssefian, Masoud Zabihi, Nailah Harvey, Lynn M. Boyden, Andrew Touati, Sirous Zeinali, Hassan Vahidnezhad, Amir Hossein Saeidian, Lu Liu, Soheila Sotoudeh, Mohammadreza Barzegar, Jouni Uitto
المصدر: Matrix biology : journal of the International Society for Matrix Biology. 99
مصطلحات موضوعية: 0301 basic medicine, Neutropenia, Gene Expression, Poikiloderma, Biology, medicine.disease_cause, Basement Membrane, 03 medical and health sciences, 0302 clinical medicine, Gene expression, medicine, Humans, Molecular Biology, Gene, Mutation, Phosphoric Diester Hydrolases, Intron, Membrane Proteins, medicine.disease, Disease gene identification, Molecular biology, Neoplasm Proteins, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Skin Abnormalities, Lamina densa, Epidermolysis bullosa, Epidermolysis Bullosa
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4
المؤلفون: Keith A. Choate, Richard P. Lifton, Amy S. Paller, Erin Loring, Jing Zhou, Ronghua Hu, Heiko Traupe, Theodore Zaki, Lynn M. Boyden, Jared Scott
المصدر: Am J Hum Genet
مصطلحات موضوعية: Heterozygote, Heredity, Mutation, Missense, Biology, Filaggrin Proteins, Skin Diseases, 03 medical and health sciences, 0302 clinical medicine, Intermediate Filament Proteins, Report, Exome Sequencing, Genetics, medicine, Missense mutation, Aspartic Acid Endopeptidases, Humans, Keratoderma, Exome, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, integumentary system, Ichthyosis, Lamellar ichthyosis, medicine.disease, Palmoplantar keratoderma, Phenotype, 030217 neurology & neurosurgery, Ichthyosis, Lamellar, Filaggrin
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5
المؤلفون: Vanessa Gildenstern, Keith A. Choate, Young H. Lim, Patrick Nitschké, Alain Hovnanian, Yolanda R. Helfrich, Richard P. Lifton, Christine Bole-Feysot, S. Duchatelet, Raúl de Lucas, Leonard M. Milstone, Lynn M. Boyden, Laura D. Attardi, Fernando Santos-Simarro, Laure Guibbal, Akemi Ishida-Yamamoto, Jing Zhou, Ronghua Hu
المساهمون: Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Yale University School of Medicine, Asahikawa Medical College, University of Michigan System, Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University
المصدر: Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, 139, pp.380-390. ⟨10.1016/j.jid.2018.08.026⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Dermatology, Biology, Biochemistry, Article, Loss of heterozygosity, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Keratoderma, Palmoplantar, Keratin, Cell Adhesion, medicine, Humans, Genes, Tumor Suppressor, Child, Frameshift Mutation, Keratoderma, Molecular Biology, Gene, chemistry.chemical_classification, integumentary system, Homozygote, Membrane Proteins, Desmosomes, Exons, Cell Biology, medicine.disease, Cell biology, Microscopy, Electron, 030104 developmental biology, Palmoplantar keratoderma, chemistry, OLMSTED SYNDROME, Codon, Nonsense, Child, Preschool, 030220 oncology & carcinogenesis, Mendelian inheritance, symbols, Female, Epidermis, Intracellular
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6
المؤلفون: Leila Youssefian, J. Zhou, Yen Loo Lim, Amy S. Paller, M. Luu, Hassan Vahidnezhad, Ana Vega, Richard P. Lifton, Lynn M. Boyden, Brittany G. Craiglow, Keith A. Choate, Leonard M. Milstone, Gil Yosipovitch, J. Browning, Laura Fachal, Ronghua Hu, Jouni Uitto, Laura Rodríguez-Pazos, L. M. Randolph, Manuel Ginarte, Lawrence F. Eichenfield, D. Kramer
المصدر: British Journal of Dermatology. 177:319-322
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Adolescent, Mutation, Missense, Dermatology, Biology, Article, Young Adult, 03 medical and health sciences, Congenital ichthyosis, Humans, Child, Aged, Aged, 80 and over, Genetics, Homozygote, Ichthyosis, Infant, Heterozygote advantage, Lipase, Middle Aged, Phenotype, Pedigree, 030104 developmental biology, Child, Preschool, Mutation (genetic algorithm), Female
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7
المؤلفون: Claire E. Hamilton, John Pappas, Lihi Atzmony, Rachel Rabin, Shawn M. Ferguson, Lynn M. Boyden, Keith A. Choate, Richard P. Lifton, Julie S. Prendiville, Young H. Lim, Jing Zhou, Ronghua Hu, Yoel Hirsch, Joseph Ekstien
المصدر: Am J Hum Genet
مصطلحات موضوعية: 0301 basic medicine, Male, Photophobia, Adaptor Protein Complex 1, Genes, Recessive, Biology, Deafness, Cell junction, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Report, Genetics, medicine, Humans, Endomembrane system, Adaptor Protein Complex beta Subunits, Hearing Loss, Gene, Genetics (clinical), Cell Proliferation, Ichthyosis, Signal transducing adaptor protein, Cell Differentiation, medicine.disease, Phenotype, Thrombocytopenia, Cell biology, Protein Subunits, Protein Transport, 030104 developmental biology, Failure to thrive, Mutation, Female, medicine.symptom
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8
المؤلفون: Theodore Zaki, J. Scott, Erin C. Loring, Keith A. Choate, Richard P. Lifton, Amy S. Paller, Lynn M. Boyden, J. Zhou, Heiko Traupe, Ronghua Hu
المصدر: Journal of Investigative Dermatology. 141:S32
مصطلحات موضوعية: Genetics, Ichthyosis, medicine, Cell Biology, Dermatology, Biology, medicine.disease, Molecular Biology, Biochemistry
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9
المؤلفون: Lynn M. Boyden, Soheila Sotoudeh, John A. McGrath, Mohammad Barzegar, Hassan Vahidnezhad, Nailah Harvey, Ariana Kariminejad, Sirous Zeinali, Jouni Uitto, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Lin Liu, Alyson Guy, Masoud Zabihi, Keith A. Choate
المصدر: Journal of Investigative Dermatology. 141:S33
مصطلحات موضوعية: Poikiloderma, Cell Biology, Dermatology, Biology, Neutropenia, medicine.disease, Biochemistry, Phenotype, Molecular biology, Basement membrane zone, Mutation (genetic algorithm), Gene expression, medicine, Epidermolysis bullosa, Molecular Biology
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10
المؤلفون: J. Zhou, Richard P. Lifton, Lynn M. Boyden, Lihi Atzmony, Young H. Lim, Keith A. Choate, Ronghua Hu
المصدر: Journal of Investigative Dermatology. 140:S36
مصطلحات موضوعية: medicine.medical_specialty, Blindness, Ichthyosis, business.industry, medicine, Cell Biology, Dermatology, medicine.disease, business, Molecular Biology, Biochemistry
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11
المؤلفون: Amy S. Paller, Keith A. Choate, Jing Zhou, Jouni Uitto, Rong Hua Hu, Deniz A. Akkaya, Leonard M. Milstone, Susan J. Bayliss, Leila Youssefian, Brittany G. Craiglow, Hassan Vahidnezhad, Nareh V. Marukian, Hande Kaymakçalan, Lynn M. Boyden, Amy Theos
المساهمون: Akkaya, Ayşe Deniz, Marukian, Nareh V., Hu, Rong-Hua, Craiglow, Brittany G., Milstone, Leonard M., Zhou, Jing, Theos, Amy, Kaymakcalan, Hande, Uitto, Jouni J., Vahidnezhad, Hassan, Youssefian, Leila, Bayliss, Susan J., Paller, Amy S., Boyden, Lynn M., Choate, Keith A., Koç University Hospital, Department of Dermatology
المصدر: JAMA Dermatology
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Adolescent, Genotype, Genetic counseling, Bathing suit ichthyosis, Mutation, Missense, Dermatology, Compound heterozygosity, Body Temperature, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, INDEL Mutation, Congenital ichthyosis, Medicine, Humans, Child, Recessive congenital ichthyosis, Transglutaminase 1 mutations, Healing collodion baby, Lamellar ichthyosis, Keratinocyte transglutaminase, TGM1 mutation, Gene, Phenotype, Erythroderma, Deficiency, Original Investigation, Genetics, Academic Medical Centers, Transglutaminases, business.industry, Ichthyosis, Infant, medicine.disease, 030104 developmental biology, Child, Preschool, Female, business, human activities, Ichthyosis, Lamellar, Congenital disorder
وصف الملف: pdf
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12
المؤلفون: Lowell A. Goldsmith, Susan J. Baserga, Keith A. Choate, Susan J. Bayliss, Amy S. Paller, Lynn M. Boyden, Anne W. Lucky, Nicholas G. Vincent, Jing Zhou, Richard P. Lifton, Ronghua Hu, Brittany G. Craiglow, Ilana S. Rosman, Luis A. Diaz
مصطلحات موضوعية: 0301 basic medicine, Proband, Heterozygote, RNA Splicing, information science, Genes, Recessive, Saccharomyces cerevisiae, Biology, Filaggrin Proteins, Ceramides, Polymorphism, Single Nucleotide, DNA sequencing, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Intermediate Filament Proteins, Report, Genetics, medicine, Humans, Genetic Predisposition to Disease, natural sciences, Genetics (clinical), Exome sequencing, Ichthyosis, Genetic Complementation Test, Keratosis, medicine.disease, Molecular biology, Exon skipping, Complementation, Alcohol Oxidoreductases, 030104 developmental biology, 030220 oncology & carcinogenesis, RNA splicing, Mutation, Mendelian inheritance, symbols
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13
المؤلفون: Lynn M. Boyden, Keith A. Choate
المصدر: The Journal of investigative dermatology. 137(5)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ectodermal dysplasia, Pathology, Mice, Transgenic, Dermatology, 030105 genetics & heredity, Biology, Biochemistry, Acro dermato ungual lacrimal tooth, Polymorphism, Single Nucleotide, Skin Diseases, 03 medical and health sciences, Mice, Blister, Ectodermal Dysplasia, medicine, Animals, Humans, Molecular Biology, Skin, Disease gene, Genome, Human, Cell Biology, DNA, Sequence Analysis, DNA, medicine.disease, Phenotype, Mutation, Keratins, Identification (biology), Polymorphism, Restriction Fragment Length, Microsatellite Repeats
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14
المؤلفون: Deepak Narayan, Duri Yun, Jennifer M. McNiff, Erin Loring, Lynn M. Boyden, Keith A. Choate, Li C. Tian, Annette Wagner, John D. Overton, Shrikant Mane, Richard P. Lifton, Richard J. Antaya, Amy S. Paller, Jonathan L. Levinsohn, Jeffrey L Sugarman
المصدر: The Journal of investigative dermatology
مصطلحات موضوعية: Somatic cell, Dermatology, Nevus, Sebaceous of Jadassohn, Biology, medicine.disease_cause, Biochemistry, Article, Proto-Oncogene Proteins p21(ras), 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Proto-Oncogene Proteins, Nevus sebaceus, medicine, Nevus, Humans, Exome, HRAS, skin and connective tissue diseases, Molecular Biology, Exome sequencing, Genetics, Extramural, Cell Biology, Sequence Analysis, DNA, medicine.disease, 030220 oncology & carcinogenesis, Mutation, Cancer research, ras Proteins, Female, KRAS
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15
المؤلفون: Ira Davis, Beatrice Goilav, Detlef Bockenhauer, Jeffrey J. Fadrowski, Ben A. Semmekrot, Trevor Cole, Lynn M. Boyden, Shrikant Mane, Margo Whiteford, Robert D. Bjornson, Giacomo Colussi, Tracy E. Hunley, Joseph R. Tucci, Fiona E. Karet, Craig C. Porter, Mohan Shenoy, Murim Choi, Priya Vaidyanathan, John W. Foreman, Jai Radhakrishnan, Stephanie Dewar, Alain Poujol, Sami A. Sanjad, Keith A. Choate, Carol Nelson-Williams, Kim M. Keppler-Noreuil, Richard D. Gordon, Matti Välimäki, Majid Rasoulpour, Richard P. Lifton, Maury Pinsk, Ali G. Gharavi, Craig W. Belsha, Hania Z. Al-Shahrouri, Sudhir K. Anand, Irina Tikhonova, Maria Elisabetta De Ferrari, Jim R. Stockigt, Marcel Lebel, Raoul D. Nelson, Howard Trachtman, Anita Farhi, Michael Gutkin, Alberto Bettinelli, Farook Thameem, Hakan R. Toka
المصدر: Nature
مصطلحات موضوعية: Male, Models, Molecular, Pseudohypoaldosteronism, Water-Electrolyte Imbalance, Blood Pressure, Sodium Chloride, 030204 cardiovascular system & hematology, medicine.disease_cause, Cohort Studies, Electrolytes, Mice, 0302 clinical medicine, Locus heterogeneity, Homeostasis, Exome sequencing, Genes, Dominant, Genetics, 0303 health sciences, Mutation, Multidisciplinary, Microfilament Proteins, Exons, Hydrogen-Ion Concentration, Cullin Proteins, WNK1, Disease gene identification, 3. Good health, Phenotype, Hypertension, Female, Genotype, Molecular Sequence Data, Genes, Recessive, Biology, Article, 03 medical and health sciences, medicine, Animals, Humans, Amino Acid Sequence, Adaptor Proteins, Signal Transducing, 030304 developmental biology, Phenocopy, Base Sequence, Gene Expression Profiling, medicine.disease, Potassium, Carrier Proteins
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16
المؤلفون: Richard P. Lifton, Susan J. Baserga, Amy S. Paller, Keith A. Choate, Nicholas G. Vincent, Ronghua Hu, J. Zhou, Lynn M. Boyden
المصدر: Journal of Investigative Dermatology. 138:S136
مصطلحات موضوعية: Genetics, Pathogenesis, Ichthyosis, medicine, Cell Biology, Dermatology, Biology, medicine.disease, Molecular Biology, Biochemistry, Exome, Genome, Cdna sequencing
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17
المؤلفون: Kathleen J. Green, Brittany G. Craiglow, Richard P. Lifton, Sheilagh Maguiness, Erin F. Mathes, Jing Zhou, Ronghua Hu, Robert Sidbury, Peter M. Elias, Lynn M. Boyden, Keith A. Choate, Mary L. Williams, Chen Y. Kam, Debra Crumrine, Angela Hernández-Martín
المصدر: Human molecular genetics. 25(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Molecular Sequence Data, Cardiomyopathy, Mutation, Missense, Connexin, medicine.disease_cause, 03 medical and health sciences, Erythrokeratodermia, stomatognathic system, Desmosome, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Child, Molecular Biology, Genetics (clinical), Skin, Mutation, biology, Desmoplakin, Genetic heterogeneity, Myocardium, Infant, Skin Diseases, Genetic, General Medicine, Desmosomes, Syndrome, Articles, medicine.disease, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Desmoplakins, Child, Preschool, Connexin 43, biology.protein, Female, Cardiomyopathies, Sequence Alignment
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18
المؤلفون: Wei Liu, Lynn M. Boyden, Jack A. Elias, Michael R. Blackburn, Hays W. J. Young, Robert J. Homer, Richard P. Lifton, Richard A. Flavell, Chun-Xiao Sun, Bing Ma, Chun Geun Lee
المصدر: Journal of Clinical Investigation. 116:1274-1283
مصطلحات موضوعية: Male, Adenosine, Inflammation, Matrix metalloproteinase, Biology, Transforming Growth Factor beta1, Mice, Adenosine deaminase, Species Specificity, Transforming Growth Factor beta, Fibrosis, medicine, Animals, Receptor, Interleukin 4, Emphysema, Mice, Inbred BALB C, General Medicine, medicine.disease, Adenosine receptor, Rats, Mice, Inbred C57BL, Pulmonary Alveoli, Immunology, biology.protein, Female, Interleukin-4, medicine.symptom, Research Article, medicine.drug
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19
المصدر: Journal of the American Academy of Dermatology. 67:e287-e289
مصطلحات موضوعية: Genetics, business.industry, Mutation (genetic algorithm), Medicine, Identification (biology), Dermatology, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, business, Phenotype, Novel mutation
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20
المؤلفون: Dianqing Wu, Anita Farhi, Richard P. Lifton, Lyle Mitzner, Junhao Mao, Joseph L. Belsky, Lynn M. Boyden, Karl L. Insogna, Mary Ann Mitnick
المصدر: New England Journal of Medicine. 346:1513-1521
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Bone density, Mutation, Missense, Mandible, Biology, Bone resorption, Bone Density, Osteogenesis, Proto-Oncogene Proteins, Internal medicine, medicine, Humans, Point Mutation, Missense mutation, Gene, LDL-Receptor Related Proteins, Genes, Dominant, Genetics, Palate, Chromosomes, Human, Pair 11, Point mutation, Wnt signaling pathway, Proteins, LRP5, Syndrome, General Medicine, Zebrafish Proteins, Pedigree, Radiography, Wnt Proteins, Low Density Lipoprotein Receptor-Related Protein-5, Endocrinology, Receptors, LDL, Case-Control Studies, LDL receptor, Intercellular Signaling Peptides and Proteins, Female, Biomarkers, Signal Transduction