المؤلفون: Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J. Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T. Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Skin Research Institute of Singapore, A*STAR, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (9)

المصدر: British Journal of Dermatology, 187(6), 948-961. Wiley

مصطلحات موضوعية: Comparative Genomic Hybridization, Germ Cells, DNA Copy Number Variations, Carcinoma, Basal Cell, Microfilament Proteins, Humans, Follicular Atrophoderma, Medicine [Science], Dermatology, Hypotrichosis, Hair Follicle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce266f5315a5c98055d5aabca2e9efebTest
https://doi.org/10.1111/bjd.21842Test

المؤلفون: Liu, Yanshan, Banka, Siddharth, Huang, Yingzhi, Hardman-Smart, Jonathan, Pye, Derek, Torrelo, Antonio, Beaman, Glenda M., Kazanietz, Marcelo G., Baker, Martin J., Ferrazzano, Carlo, Shi, Chenfu, Orozco, Gisela, Eyre, Stephen, van Geel, Michel, Bygum, Anette, Fischer, Judith, Miedzybrodzka, Zosia, Abuzahra, Faris, Rübben, Albert, Cuvertino, Sara, Ellingford, Jamie M., Smith, Miriam J., Evans, D. Gareth, Weppner-Parren, Lizelotte J. M. T., van Steensel, Maurice A. M., Chaudhary, Iskander H., Mangham, D. Chas, Lear, John T., Paus, Ralf, Frank, Jorge, Newman, William G., Zhang, Xue

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Skin Research Institute of Singapore, A*STAR

مصطلحات موضوعية: Science::Medicine, Follicular Atrophoderma, Hair Follicle

العلاقة: British Journal of Dermatology; Liu, Y., Banka, S., Huang, Y., Hardman-Smart, J., Pye, D., Torrelo, A., Beaman, G. M., Kazanietz, M. G., Baker, M. J., Ferrazzano, C., Shi, C., Orozco, G., Eyre, S., van Geel, M., Bygum, A., Fischer, J., Miedzybrodzka, Z., Abuzahra, F., Rübben, A., .Zhang, X. (2022). Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. British Journal of Dermatology, 187(6), 948-961. https://dx.doi.org/10.1111/bjd.21842Test; https://hdl.handle.net/10356/163556Test; 2-s2.0-85137902817; 187; 948; 961

الإتاحة: https://doi.org/10.1111/bjd.21842Test
https://hdl.handle.net/10356/163556Test

المؤلفون: Fateme Rajabi, Fahimeh Abdollahimajd

المصدر: The Journal of Pediatrics. 232:304-306

مصطلحات موضوعية: medicine.medical_specialty, Follicular atrophoderma, business.industry, Pediatrics, Perinatology and Child Health, MEDLINE, medicine, medicine.disease, business, Dermatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::810548a35c3d9939f2046301b1ec3620Test
https://doi.org/10.1016/j.jpeds.2021.01.049Test

المؤلفون: Huret, JL

المساهمون: Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

مصطلحات موضوعية: Chromosome X, Bazex syndrome (alias), Follicular atrophoderma and basal cell carcinomas (alias), Cancer Prone Diseases Section

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Kprones/BazexDupreChristolID10096.htmlTest; Atlas of Genetics and Cytogenetics in Oncology and Haematology; 2013, Vol. 17, N° 3; p. 229-230; http://hdl.handle.net/2042/48768Test; https://doi.org/10.4267/2042/48768Test

الإتاحة: https://doi.org/10.4267/2042/48768Test
http://hdl.handle.net/2042/48768Test

المؤلفون: Pierre Vabres, Asma Smahi, Huyn-Sook Park, Marcel Huber, Fanny Morice-Picard, Daniel Bachmann, Daniel Hohl, Markus Plomann, Gabriela Blanchard, Eirini Papanastasi, Elena Chiticariu, Christine Pich

مصطلحات موضوعية: Septin ring, Ciliopathy, Midbody, Follicular atrophoderma, Ciliogenesis, Cilium, medicine, Bazex–Dupré–Christol syndrome, Gene mutation, Biology, medicine.disease, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42be561c1c8c0994f0fdf4e47b01a61Test
https://doi.org/10.1101/2019.12.16.877498Test

المؤلفون: Manahel Mahmood AlSabbagh, Mariam A. Baqi

المصدر: International Journal of Dermatology. 57:1102-1106

مصطلحات موضوعية: medicine.medical_specialty, Skin Neoplasms, Follicular atrophoderma, business.industry, Ichthyosis, Genodermatosis, Keratosis, Dermatology, Hypotrichosis, medicine.disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Milia, Carcinoma, Basal Cell, 030220 oncology & carcinogenesis, medicine, Bazex–Dupré–Christol syndrome, Humans, Basal cell carcinoma, Symptom onset, Nervous System Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9f19884e3d17c0c18f7710685593b5Test
https://doi.org/10.1111/ijd.14065Test

المؤلفون: Hassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, Omid Zargari, Jouni Uitto, Andrew Touati, Amir Hossein Saeidian

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, 0301 basic medicine, Follicular atrophoderma, Adolescent, Mutation, Missense, lcsh:Medicine, Biology, medicine.disease_cause, Hypotrichosis, ST14, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Pharmacology (medical), Matriptase, Ichthyosis-hypotrichosis syndrome, Genetics (clinical), Genetics, Mutation, Ichthyosis, Research, Serine Endopeptidases, lcsh:R, Syndrome, General Medicine, medicine.disease, Phenotype, Human genetics, Pedigree, 030104 developmental biology, biology.protein, Next-generation sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bac1ab4f81af4064d2f600e87224d5aTest
http://link.springer.com/article/10.1186/s13023-017-0728-8Test

المؤلفون: Junko SOWA, Masamistu ISHII, Riei KAMO, Shigeto YANAGIHARA, Shinji UEHARA, Tomoko KAWAKAMI, 上原 慎司, 加茂 理英, 川上 倫子, 曽和 順子, 柳原 茂人, 石井 正光

المصدر: Skin Cancer. 2008, 23(2):145

المؤلفون: Annalucia Virdi, Sara Baldassari, Annalisa Patrizi, Marco Seri, Iria Neri, Giada Tortora

المساهمون: Neri, Iria, Virdi, Annalucia, Tortora, Giada, Baldassari, Sara, Seri, Marco, Patrizi, Annalisa

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Follicular atrophoderma, business.industry, Ichthyosis, ARCI11, Dermatology, Bioinformatics, medicine.disease, Biochemistry, eye diseases, 03 medical and health sciences, 030104 developmental biology, Medicine, Hypotrichosis, Missense mutation, business, Autosomal recessive congenital ichthyosi, Follicular atrophoderma and hypotrichosi, Molecular Biology

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90da9a0475fa09b4f200fc8f6e32be2bTest
http://hdl.handle.net/11585/549027Test

المؤلفون: NERI, IRIA, VIRDI, ANNALUCIA, TORTORA, GIADA, BALDASSARI, SARA, SERI, MARCO, PATRIZI, ANNALISA

المساهمون: Neri, Iria, Virdi, Annalucia, Tortora, Giada, Baldassari, Sara, Seri, Marco, Patrizi, Annalisa

مصطلحات موضوعية: ARCI11, Autosomal recessive congenital ichthyosi, Follicular atrophoderma and hypotrichosi, Biochemistry, Molecular Biology

الوقت: 2708

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26596219; info:eu-repo/semantics/altIdentifier/wos/WOS:000368471000009; volume:81; issue:1; firstpage:63; lastpage:66; numberofpages:4; journal:JOURNAL OF DERMATOLOGICAL SCIENCE; http://hdl.handle.net/11585/549027Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84955367476; www.elsevier.com/locate/jdermsci

الإتاحة: https://doi.org/10.1016/j.jdermsci.2015.10.012Test
http://hdl.handle.net/11585/549027Test