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1دورية أكاديمية
المؤلفون: Thomas, AC, Zeng, Z, Rivière, J-B, O'Shaughnessy, R, Al-Olabi, L, St-Onge, J, Atherton, DJ, Aubert, H, Bagazgoitia, L, Barbarot, S, Bourrat, E, Chiaverini, C, Chong, WK, Duffourd, Y, Glover, M, Groesser, L, Hadj-Rabia, S, Hamm, H, Happle, R, Mushtaq, I, Lacour, J-P, Waelchli, R, Wobser, M, Vabres, P, Patton, EE, Kinsler, VA
مصطلحات موضوعية: Alleles, Animals, Genetically Modified, Base Sequence, DNA Mutational Analysis, GTP-Binding Protein alpha Subunits, Gq-G11, HEK293 Cells, Humans, Infant, Molecular Sequence Data, Mongolian Spot, Mutation, Missense, Neurocutaneous Syndromes, Phenotype, Phosphorylation, Signal Transduction, Skin Diseases, Zebrafish
وصف الملف: 770 - 778
العلاقة: J Invest Dermatol; http://qmro.qmul.ac.uk/xmlui/handle/123456789/25589Test
الإتاحة: https://doi.org/10.1016/j.jid.2015.11.027Test
http://qmro.qmul.ac.uk/xmlui/handle/123456789/25589Test -
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المؤلفون: Ryutaro Kira, Satoshi O. Suzuki, Takafumi Shimogawa, Nobuya Murakami, Takato Morioka, Hironori Haruyama, Nobutaka Mukae, Koji Iihara
المصدر: Child's Nervous System. 35:119-128
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Mongolian spot, Melanocyte, Skin Diseases, Neurosurgical Procedures, Lesion, 03 medical and health sciences, Nerve Fibers, 0302 clinical medicine, Glial Fibrillary Acidic Protein, medicine, Humans, Peripheral Nerves, Retrospective Studies, Glial fibrillary acidic protein, biology, business.industry, Infant, Neural crest, General Medicine, Myeloschisis, Spinal cord, medicine.disease, medicine.anatomical_structure, Spinal Cord, Neural Crest, Child, Preschool, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, biology.protein, Melanocytes, Female, Histopathology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed65c9693152c949765524000ab666a7Test
https://doi.org/10.1007/s00381-018-3870-2Test -
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المؤلفون: Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
المساهمون: Genetics and Genomic Medicine, University College of London [London] ( UCL ), MRC Human Genetics Unit, University of Edinburgh-Western General Hospital, Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Great Ormond Street Hospital for Children [London] ( GOSH ), Service de dermatologie [Nantes], Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Ramon & Cajal University Hospital, Department of dermatology, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Centre de référence de dermatologie pédiatrique, CHU Nice, Universität Regensburg ( UR ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Department of Dermatology, Venerology and Allergology, Universitätsklinikum Würzburg, Department of Dermatology, Universitätsklinikum Freiburg, Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Wellcome Trust WT104076MA National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust University College London Livingstone Skin Research Centre, UCL Institute of Child Health, London Medical Research Council, Human Genetics Unit, Unite Kingdom Groupe Interregional de Recherche Clinique et d'Innovation (GIRCI) Est Programme Hospitalier de Recherche Clinique (PHRC) National, ANR-13-PDOC-0029,MOSAIC,Une approche génomique pour identifier des mutations postzygotiques responsables d'anomalies du développement évocatrices d'un mosaïcisme cutané ( 2013 ), University College of London [London] (UCL), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Great Ormond Street Hospital for Children [London] (GOSH), Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nice (CHU Nice), Universität Regensburg (UR), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), ANR-13-PDOC-0029,MOSAIC,Une approche génomique pour identifier des mutations postzygotiques responsables d'anomalies du développement évocatrices d'un mosaïcisme cutané(2013), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. 〈http://www.sciencedirect.com/science/article/pii/S0022202X16003328Test〉. 〈10.1016/j.jid.2015.11.027〉
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Investigative Dermatology, Nature Publishing Group, 2016, 136 (4), pp.770-778. ⟨10.1016/j.jid.2015.11.027⟩
The Journal of Investigative Dermatology
Thomas, A C, Zeng, Z, Rivière, J-B, O'Shaughnessy, R, Al-Olabi, L, St.-Onge, J, Atherton, D J, Aubert, H, Bagazgoitia, L, Barbarot, S, Bourrat, E, Chiaverini, C, Chong, W K, Duffourd, Y, Glover, M, Groesser, L, Hadj-Rabia, S, Hamm, H, Happle, R, Mushtaq, I, Lacour, J-P, Waelchli, R, Wobser, M, Vabres, P, Patton, E E & Kinsler, V A 2016, ' Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis ', Journal of Investigative Dermatology, vol. 136, no. 4, pp. 770-778 . https://doi.org/10.1016/j.jid.2015.11.027Testمصطلحات موضوعية: WT, wild type, DNA Mutational Analysis, Molecular Sequence Data, postzygotic mutations, Mutation, Missense, SWS, Sturge-Weber syndrome, Dermatology, cesioflammea, germline, Biochemistry, Skin Diseases, Animals, Genetically Modified, g-protein, DNA, deoxyribonucleic acid, Mongolian Spot, oculodermal melanocytosis, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Genetics, Animals, Humans, ddc:610, Phosphorylation, choroidal melanoma, Molecular Biology, Alleles, Zebrafish, disease, Base Sequence, Neurocutaneous Syndromes, sturge-weber, Infant, Cell Biology, mongolian spot, PPV, phakomatosis pigmentovascularis, GTP-Binding Protein alpha Subunits, HEK293 Cells, Phenotype, Mutation, GTP-Binding Protein alpha Subunits, Gq-G11, Original Article, uveal melanoma, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Signal Transduction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1a7b2c6f371b65e70ff89ff8fafdcbe2Test
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-189689Test -
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المؤلفون: Nurimar C. Fernandes, Vanessa Zagne
المصدر: Indian Journal of Dermatology, Venereology and Leprology, Vol 77, Iss 4, Pp 470-476 (2011)
مصطلحات موضوعية: Male, medicine.medical_specialty, Mongolian spot, Cutis marmorata, Common skin diseases, Erythema, new born baby, Sebaceous hyperplasia, Dermatology, Skin Diseases, Infant, Newborn, Diseases, Pregnancy, medicine, lcsh:Dermatology, Humans, Neonatology, cutaneous markers, Acrocyanosis, Hospitals, Public, business.industry, Vaginal delivery, Age Factors, Infant, Newborn, lcsh:RL1-803, medicine.disease, Health Surveys, Hyperpigmentation, Cross-Sectional Studies, Infectious Diseases, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2fc10db71b6cb6f0679c60f3b9203b8Test
http://www.ijdvl.com/article.asp?issn=0378-6323;year=2011;volume=77;issue=4;spage=470;epage=476;aulast=ZagneTest -
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المؤلفون: Sultan Al-Khenaizan, Mohammed I. AlJasser
المصدر: European Journal of Pediatrics. 167:1221-1230
مصطلحات موضوعية: Child abuse, Pediatrics, medicine.medical_specialty, Ichthyosis, X-Linked, IgA Vasculitis, Victimology, Poison control, Dermatitis, Impetigo, Skin Diseases, Suicide prevention, Occupational safety and health, Diagnosis, Differential, Mongolian Spot, Urticaria Pigmentosa, Injury prevention, medicine, Humans, Child Abuse, Child, Psychiatry, Incidence study, Physician-Patient Relations, business.industry, Infant, Newborn, Infant, Human factors and ergonomics, Child Abuse, Sexual, Anus Neoplasms, Epidermolysis Bullosa Dystrophica, Lip Neoplasms, Pediatrics, Perinatology and Child Health, Hemangioma, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d0f187f83e301eca14ee9d5c79deca6Test
https://doi.org/10.1007/s00431-008-0792-0Test -
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المؤلفون: D. Boccardi, Monica Ferraroni, Silvano Menni, G Stival, L Bernardo, Adriano Decarli, Carlo La Vecchia
المصدر: Dermatology. 215:53-58
مصطلحات موضوعية: Adult, Male, Mongolian spot, Pediatrics, medicine.medical_specialty, Skin Neoplasms, Gestational Age, Dermatology, Risk Assessment, Skin Diseases, Cohort Studies, Pregnancy, Confidence Intervals, Odds Ratio, medicine, Humans, Nevus, Hemangioma, Capillary, Birthmark, Probability, Nevus, Pigmented, business.industry, Cafe-au-Lait Spots, Incidence, Incidence (epidemiology), Infant, Newborn, Gestational age, Odds ratio, medicine.disease, Italy, Skin Abnormalities, Female, business, Pigmentation Disorders, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245e4bfc99789ca3664378a7d537722bTest
https://doi.org/10.1159/000102034Test -
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المؤلفون: Angéla Meszes, Lajos Kemény, Hajnalka Orvos, Zita Gyurkovits, Rita Ábrahám, Judit Bakki, Zsanett Csoma
المصدر: Orvosi hetilap. 155(13)
مصطلحات موضوعية: Male, Mongolian spot, medicine.medical_specialty, media_common.quotation_subject, Skin Diseases, Infant, Newborn, Diseases, Erythema toxicum neonatorum, Prevalence, Medicine, Humans, media_common, Hungary, integumentary system, business.industry, Incidence, Kiss, Infant, Newborn, General Medicine, medicine.disease, Dermatology, Health Surveys, Female, Epidermolysis bullosa, business, Neonatal skin, Epidermolysis Bullosa, Hemangioma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::188ace747c5eb57bad50d52302459857Test
https://pubmed.ncbi.nlm.nih.gov/24659743Test -
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المؤلفون: Tahereh Hosseini, Zahra Moosavi
المصدر: Pediatric Dermatology. 23:61-63
مصطلحات موضوعية: Male, Hypertrichosis, medicine.medical_specialty, Pediatrics, Skin Neoplasms, Time Factors, Erythema, Sebaceous hyperplasia, Dermatology, Iran, Risk Assessment, Skin Diseases, Cohort Studies, Hemangioma, Miliaria, Mongolian Spot, Epidemiology, Erythema toxicum neonatorum, Humans, Medicine, Prospective Studies, Sex Distribution, Prospective cohort study, Nevus, Pigmented, business.industry, Incidence, Infant, Newborn, medicine.disease, Milia, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2975a241ef4df7bd433e3c505451b3cTest
https://doi.org/10.1111/j.1525-1470.2006.00172.xTest -
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المؤلفون: Klaus Mohnike, Andreas Ambach, Despoina Papathemeli
المصدر: JAMA Dermatology. 151:1249
مصطلحات موضوعية: Mongolian spot, Pathology, medicine.medical_specialty, Gangliosidosis, GM1, Coarse facial features, business.industry, GM1 Gangliosidosis, Infant, Dermoscopy, Costal Arch, Dermatology, Anatomy, medicine.disease, Skin Diseases, medicine.anatomical_structure, Brown pigment, Shoulder region, medicine, Humans, Female, sense organs, Buttocks, business, Skin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9712e60eea968b195adab86c20dd8f9Test
https://doi.org/10.1001/jamadermatol.2015.2469Test -
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المؤلفون: B, Monteagudo, J, Labandeira, E, León-Muiños, I, Carballeira, A, Corrales, M, Cabanillas, O, Suárez-Amor, J, Toribio
المصدر: Actas dermo-sifiliograficas. 102(4)
مصطلحات موضوعية: Hyperplasia, Skin Neoplasms, Cysts, Port-Wine Stain, Hypertrichosis, Infant, Newborn, Skin Diseases, Callosities, Sebaceous Glands, Mongolian Spot, Socioeconomic Factors, Neoplastic Syndromes, Hereditary, Spain, Ethnicity, Prevalence, Humans, Hemangioma, Capillary, Ichthyosis, Lamellar
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6e5495eb9d6075fec023074918d4002aTest
https://pubmed.ncbi.nlm.nih.gov/21324425Test