المؤلفون: Alexandria Avery, DO, John S. Metcalf, MD, John C. Maize, MD, Leah A. Swanson, MD

المصدر: JAAD Case Reports, Vol 24, Iss , Pp 52-55 (2022)

مصطلحات موضوعية: cutaneous T-cell lymphoma, Noonan-like syndrome with loose anagen hair, RASopathies, SHOC2 mutation, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352512622001886Test; https://doaj.org/toc/2352-5126Test

الوصول الحر: https://doaj.org/article/cae45cf44da747b5acb072e06d4a0797Test

المؤلفون: Frey, Tanja, Ivanovski, Ivan, Bahr, Angela, Zweier, Markus, Laube, Julia, Luchsinger, Isabelle, Steindl, Katharina, Rauch, Anita

المصدر: Frey, Tanja; Ivanovski, Ivan; Bahr, Angela; Zweier, Markus; Laube, Julia; Luchsinger, Isabelle; Steindl, Katharina; Rauch, Anita (2023). A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome. American Journal of Medical Genetics. Part A, 191(8):2074-2082.

مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, Adaptive Brain Circuits in Development and Learning (AdaBD), Clinic for Surgery, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), attenuated phenotype, Costello syndrome, HRAS, HRAS-related RASopathy, loose anagen hair, p.Ala59Gly, RASopathy

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/233729/1/American_J_of_Med_Genetics_Pt_A___2023___Frey___A_very_mild_phenotype_in_six_individuals_of_a_three_generation_family_with.pdfTest; info:pmid/37194190; urn:issn:1552-4825

الإتاحة: https://doi.org/10.5167/uzh-23372910.1002/ajmg.a.63240Test
https://www.zora.uzh.ch/id/eprint/233729Test/
https://www.zora.uzh.ch/id/eprint/233729/1/American_J_of_Med_Genetics_Pt_A___2023___Frey___A_very_mild_phenotype_in_six_individuals_of_a_three_generation_family_with.pdfTest

المؤلفون: Qingming Wang, Shuangxi Cheng, Youqing Fu, Haiming Yuan

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: SHOC2, Noonan syndrome-like with loose anagen hair (NS/LAH), short stature, growth hormone (GH), growth hormone deficiency (GHD), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.1040124/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/ef564abc0a0f4454845b8d13e89cf04cTest

المؤلفون: N. Bouayed Abdelmoula

المصدر: European Psychiatry, Vol 65, Pp S462-S462 (2022)

مصطلحات موضوعية: Noonan-like syndrome with loose anagen hair, RAS-MAPK, attention deficit-hyperactivity disorder, Psychiatry, RC435-571

وصف الملف: electronic resource

العلاقة: https://www.cambridge.org/core/product/identifier/S0924933822011725/type/journal_articleTest; https://doaj.org/toc/0924-9338Test; https://doaj.org/toc/1778-3585Test

الوصول الحر: https://doaj.org/article/653bbdc0d6f74b6c841a39d7ffbf65f4Test

المؤلفون: Shahnawaz D. Jadeja, Desmond J. Tobin

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: anagen hair follicle, autoimmunity, immune privilege, post-translational modification (PTM), citrullination, deamidation, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2022.890027/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/99399c51266d415a87a5de7b575c762cTest

المؤلفون: Kane, Jennifer L., Berrebi, Kristen, McLean, Riley, Petkiewicz, Stephanie, Hay, Beverly N., Martin, Madelena, Wiss, Karen

المساهمون: Department of Pediatrics, Department of Pathology, Department of Dermatology

المصدر: Clinical case reports ; 5 ; 7 ; 1152-1154

مصطلحات موضوعية: Noonan syndrome with loose anagen hair, trichoptilosis, trichorrhexis nodosa, Dermatology, Pediatrics, Skin and Connective Tissue Diseases

العلاقة: Link to Article in PubMed; Clin Case Rep. 2017 Jul; 5(7): 1152–1154. doi:10.1002/ccr3.1011. Link to article on publisher's site; 2050-0904 (Linking); http://hdl.handle.net/20.500.14038/43600Test; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1169&context=peds_pp&unstamped=1Test; https://escholarship.umassmed.edu/peds_pp/170Test; peds_pp/170

الإتاحة: https://doi.org/10.1002/ccr3.1011Test
https://doi.org/20.500.14038/43600Test
https://hdl.handle.net/20.500.14038/43600Test
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1169&context=peds_pp&unstamped=1Test
https://escholarship.umassmed.edu/peds_pp/170Test

المؤلفون: Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco

المصدر: Motta , M , Solman , M , Bonnard , A A , Kuechler , A , Pantaleoni , F , Priolo , M , Chandramouli , B , Coppola , S , Pizzi , S , Zara , E , Ferilli , M , Kayserili , H , Onesimo , R , Leoni , C , Brinkmann , J , Vial , Y , Kamphausen , S B , Thomas-Teinturier , C , Guimier , A , Cordeddu , V , Mazzanti , L , Zampino , G , Chillemi , G , Zenker , M , Cavé ....

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Humans, Intracellular Signaling Peptides and Proteins/genetics, Loose Anagen Hair Syndrome/genetics, Phenotype, ras Proteins/genetics

العلاقة: https://pure.knaw.nl/portal/en/publications/5636914a-6b7e-4dec-abec-2c4f72dee7fdTest

الإتاحة: https://doi.org/10.1093/hmg/ddac071Test
https://doi.org/20.500.11755/5636914a-6b7e-4dec-abec-2c4f72dee7fdTest
https://pure.knaw.nl/portal/en/publications/5636914a-6b7e-4dec-abec-2c4f72dee7fdTest
https://hdl.handle.net/20.500.11755/5636914a-6b7e-4dec-abec-2c4f72dee7fdTest

المؤلفون: Conor Vickers, MD, David Oberlin, MD, Tor A. Shwayder, MD

المصدر: JAAD Case Reports, Vol 6, Iss 2, Pp 92-95 (2020)

مصطلحات موضوعية: loose anagen hair syndrome, uncombable hair syndrome, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352512619306058Test; https://doaj.org/toc/2352-5126Test

الوصول الحر: https://doaj.org/article/8fa65f80ac45403e92b72b65d8bdf4dbTest

المؤلفون: Kumaresan Muthuvel, Srinivas Chakravati, Sasidaharan Nair

المصدر: Indian Dermatology Online Journal, Vol 8, Iss 2, Pp 111-114 (2017)

مصطلحات موضوعية: Anagen hair, epilation force, trichotillometer, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.idoj.in/article.asp?issn=2229-5178;year=2017;volume=8;issue=2;spage=111;epage=114;aulast=MuthuvelTest; https://doaj.org/toc/2229-5178Test

الوصول الحر: https://doaj.org/article/808c0d55fe6b4e3788fa9b6cbf372fb8Test

المؤلفون: Marialetizia Motta, Antonella Giancotti, Gioia Mastromoro, Balasubramanian Chandramouli, Valentina Pinna, Francesca Pantaleoni, Niccolò Di Giosaffatte, Stefania Petrini, Tommaso Mazza, Valentina D’Ambrosio, Paolo Versacci, Flavia Ventriglia, Giovanni Chillemi, Antonio Pizzuti, Marco Tartaglia, Alessandro De Luca

المساهمون: Motta, Marialetizia, Giancotti, Antonella, Mastromoro, Gioia, Chandramouli, Balasubramanian, Pinna, Valentina, Pantaleoni, Francesca, DI GIOSAFFATTE, Niccolo', Petrini, Stefania, Mazza, Tommaso, D'Ambrosio, Valentina, Versacci, Paolo, Ventriglia, Flavia, Chillemi, Giovanni, Pizzuti, Antonio, Tartaglia, Marco, De Luca, Alessandro

مصطلحات موضوعية: hypertrophic cardiomyopathy, loose anagen hair, MAPK signaling, Noonan syndrome, prenatal diagnosi, RASopathie, SHOC2

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31059601; info:eu-repo/semantics/altIdentifier/wos/WOS:000480595600006; firstpage:1; lastpage:11; numberofpages:11; journal:HUMAN MUTATION; http://hdl.handle.net/11573/1278927Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070601884

الإتاحة: https://doi.org/10.1002/humu.23767Test
http://hdl.handle.net/11573/1278927Test