المؤلفون: Nishtha Manuja, MBBS, Sandip Mohale, MBBS, DNB Medicine, Shreya Khandelwal, MBBS, Anshul Sood, MBBS

المصدر: Radiology Case Reports, Vol 20, Iss 2, Pp 1280-1283 (2025)

مصطلحات موضوعية: Macrodystrophia lipomatosa (MDL), Mesenchymal, Macrodactyly, Radiology, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324012998; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/63bb183c5ddf400bbc3a5bd715dea1e1

المؤلفون: Kaja Giżewska-Kacprzak, Maximilian Śliwiński, Karol Nicieja, Lidia Babiak-Choroszczak, Ireneusz Walaszek

المصدر: Children, Vol 11, Iss 7, p 753 (2024)

مصطلحات موضوعية: macrodactyly, overgrowth, congenital upper limb difference, PROS, hand surgery, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/11/7/753; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/229683674dcf4226ad1d49caeda8e3e1

المؤلفون: Da Mata, Inês, Caetano, António Proença

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)

مصطلحات موضوعية: Macrodactyly, macrodystrophia lipomatosa, MRI, musculoskeletal, Radiology Nuclear Medicine and imaging

Relation: PURE: 88198926; PURE UUID: f0c6ea5e-6284-4271-9307-a7cc7d2effec; Scopus: 85189440164; http://hdl.handle.net/10362/166253; https://doi.org/10.5334/jbsr.3522

الاتاحة: http://hdl.handle.net/10362/166253
https://doi.org/10.5334/jbsr.3522

المؤلفون: Rishabh Pratap, MBBS, Gaurav Raj, MD

المصدر: Radiology Case Reports, Vol 18, Iss 4, Pp 1613-1616 (2023)

مصطلحات موضوعية: Macrodystrophia lipomatosa (MDL), Mesenchymal, Macrodactyly, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043323000821; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/1726dc2b00fe4b869944a3841474c651

المؤلفون: Syed A, Das S, Abdul-Rashid AH, Wan-Ahmad-Kamal WSE, Jamil K

المصدر: Malaysian Orthopaedic Journal, Vol 16, Iss 2, Pp 136-139 (2022)

مصطلحات موضوعية: macrodactyly, anatomical dissection, macrodystrophia lipomatosa, lipomatosis of nerve, fibrolipomatous hamartoma, Orthopedic surgery, RD701-811

وصف الملف: electronic resource

Relation: http://morthoj.org/2022/v16n2/macrodystrophia-lipomatosa.pdf; https://doaj.org/toc/1985-2533; https://doaj.org/toc/2232-111X

URL الوصول: https://doaj.org/article/65a57a9cd9674855aa267ecd104afa8a

المؤلفون: Merel L.E. Stor, Max M. Lokhorst, Sophie E.R. Horbach, Chantal M.A.M. van der Horst

المصدر: JPRAS Open, Vol 31, Iss , Pp 10-21 (2022)

مصطلحات موضوعية: Macrodactyly, macrodystrophia lipomatosa, overgrowth, PIK3CA, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352587821000929; https://doaj.org/toc/2352-5878

URL الوصول: https://doaj.org/article/ce689c643c6f4e38ba93192585322d1d

المؤلفون: Li JF, Tian GL, Pan H, Zhang WT, Li DC, Liu JD, Zhao L, Li HL

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 55-64 (2022)

مصطلحات موضوعية: hand deformity, foot deformity, macrodactyly, pik3ca gene, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/an-analysis-of-the-pathogenic-genes-and-mutation-sites-of-macrodactyly-peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066

URL الوصول: https://doaj.org/article/d54752053bd14c4fa114b915e3ed0ac7

المؤلفون: Topi Nyodu, Soumen Pal, Khooshbu Gayen, P N Nanmaran, Subir Sarkar

المصدر: Journal of Primary Care Dentistry and Oral Health, Vol 3, Iss 2, Pp 50-53 (2022)

مصطلحات موضوعية: genu valgum, klippel–trenaunay syndrome, macrodactyly, portwine stain, Dentistry, RK1-715

وصف الملف: electronic resource

Relation: http://www.jpcdoh.org/article.asp?issn=2772-3534;year=2022;volume=3;issue=2;spage=50;epage=53;aulast=Nyodu; https://doaj.org/toc/2772-3534; https://doaj.org/toc/2772-3542

URL الوصول: https://doaj.org/article/4dda4a5f7202493996cc038907e3c429

المؤلفون: Nicola Blum, Matthew P. Harris

المصدر: Disease Models & Mechanisms, Vol 16, Iss 2 (2023)

مصطلحات موضوعية: zebrafish, skeleton, somatic mutation, macrodactyly, proteus syndrome, cartilage condensation, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/16/2/dmm049793; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/50595cc393134101a131d779819a254f

المؤلفون: G. B. Sagoyan, N. V. Zhukov, V. V. Strelnikov, R. A. Khagurov, A. M. Suleymanova, Yu. M. Mareeva, R. V. Garbuzov, E. N. Imyanitov, Yu. V. Dinikina, S. I. Kutsev, E. K. Donyush, K. I. Kirgizov, N. A. Semenova, Yu. A. Polyaev, I. S. Kletskaya, A. A. Maschan, S. R. Varfolomeeva, Г. Б. Сагоян, Н. В. Жуков, В. В. Стрельников, Р. А. Хагуров, А. М. Сулейманова, Ю. М. Мареева, Р. В. Гарбузов, Е. Н. Имянитов, Ю. В. Диникина, С. И. Куцев, Е. К. Донюш, К. И. Киргизов, Н. А. Семенова, Ю. А. Поляев, И. С. Клецкая, А. А. Масчан, С. Р. Варфоломеева

المصدر: Russian Journal of Pediatric Hematology and Oncology; Том 10, № 2 (2023); 117-130 ; Российский журнал детской гематологии и онкологии (РЖДГиО); Том 10, № 2 (2023); 117-130 ; 2413-5496 ; 2311-1267

مصطلحات موضوعية: сиролимус, PIK3CA mutation, overgrowth spectrum, CLOVES, CLAPO, Klippel–Trenaunay syndrome, macrodactyly, lipomatosis, vascular malformations, epidermal nevus, alpelisib, sirolimus, мутация PIK3CA, спектр синдромов избыточного роста, синдром Клиппеля– Треноне, макродактилия, липоматоз, сосудистые мальформации, эпидермальный невус, алпелисиб

وصف الملف: application/pdf

Relation: https://journal.nodgo.org/jour/article/view/944/831; https://journal.nodgo.org/jour/article/view/944/832; Сагоян Г.Б., Клецкая И.С., Имянитов Е.Н., Мареева Ю.М., Жуков Н.В., Хагуров Р.А., Сулейманова А.М. Спектр синдромов избыточного роста, связанных с мутацией PIK3CA. Обзор литературы. Российскийжурнал детской гематологии и онкологии. 2022;9(1):29–44. doi:10.21682/2311-1267-2022-9-1-29-44.; Canaud G., Hammill A.M., Adams D., Vikkula M., Keppler-Noreuil K.M. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021;16(1):306. doi:10.1186/s13023-021-01929-8.; Nunnery S.E., Mayer I.A. Targeting the PI3K/AKT/mTOR Pathway in Hormone-Positive Breast Cancer Drugs. 2020;80:1685–97. doi:10.1007/s40265-020-01394-w.; Madsen R.R., Vanhaesebroeck B., Semple R.K. Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. Trends Mol Med. 2018;24(10):856–70. doi:10.1016/j.molmed.2018.08.003.; Douzgou S., Rawson M., Baselga E., Danielpour M., Faivre L., Kashanian A., Keppler-Noreuil K.M., Kuentz P., Mancini G.M.S., Maniere M.C., Martinez-Glez V., Parker V.E., Semple R.K., Srivastava S., Vabres P., De Wit M.Y., Graham J.M. Jr, Clayton-Smith J., Mirzaa G.M., Biesecker L.G. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022;101(1):32–47. doi:10.1111/cge.14027.; Mirzaa G., Graham J.M. Jr, Keppler-Noreuil K.M. PIK3CA-Related Overgrowth Spectrum. In: Adam M.P., Everman D.B., Mirzaa G.M., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.; Keppler-Noreuil K.M., Rios J.J., Parker V.E., Semple R.K., Lindhurst M.J., Sapp J.C., Alomari A., Ezaki M., Dobyns W., Biesecker L.G. PIK3CArelated overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, diff erential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287–95. doi:10.1002/ajmg.a.36836.; Canaud G., López Gutiérrez J.C., Irvine A., Ankrah N., Ridolfi A., Adams D.M. LBA23 EPIK-P1: Retrospective chart review study of patients (pts) with PIK3CA-related Overgrowth Spectrum (PROS) who have received alpelisib (ALP) as part of a compassionate use programme. Dev Ther. 2021;32(Suppl 5):S1297. doi:10.1016/j.annonc.2021.08.2097.; Garreta Fontelles G., Pardo Pastor J., Grande Moreillo C. Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum. Br J Clin Pharmacol. 2022;88(8):3891–5. doi:10.1111/bcp.15270.; Morin G., Degrugillier-Chopinet C., Vincent M., Fraissenon A., Aubert H., Chapelle C., Hoguin C., Dubos F., Catteau B., Petit F., Mezel A., Domanski O., Herbreteau G., Alesandrini M., Boddaert N., Boutry N., Broissand C., Kevin Han T., Branle F., Sarnacki S., Blanc1 T., Guibaud L., Canaud G. Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib. J Exp Med. 2022;219(3):e20212148. doi:10.1084/jem.20212148.; Madsen R.R., Semple R.K. PIK3CA-related overgrowth: silver bullets from the cancer arsenal? Trends Mol Med. 2022;28(4):255–7. doi:10.1016/j.molmed.2022.02.009.; Parker V.E.R., Keppler-Noreuil K.M., Faivre L., Luu M., Oden N.L., De Silva L., Sapp J.C., Andrews K., Bardou M., Chen K.Y., Darling T.N., Gautier E., Goldspiel B.R., Hadj-Rabia S., Harris J., Kounidas G., Kumar P., Lindhurst M.J., Loff roy R., Martin L., Phan A., Rother K.I., Widemann B.C., Wolters P.L., Coubes C., Pinson L., Willems M., Vincent-Delorme C.; PROMISE Working Group; Vabres P., Semple R.K., Biesecker L.G. Safety and efficacy of low-dose sirolimus in the PIK3CArelated overgrowth spectrum. Genet Med. 2019;21(5):1189–98. doi:10.1038/s41436-018-0297-9.; https://journal.nodgo.org/jour/article/view/944

الاتاحة: https://journal.nodgo.org/jour/article/view/944
https://doi.org/10.21682/2311-1267-2023-10-2-117-123

المؤلفون: Roy Waknin, MD, Ashley Lynn Evens, MD, Lee Garritt Phillips, MD, Jennifer Neville Kucera, MD, MS

المصدر: Radiology Case Reports, Vol 17, Iss 3, Pp 638-640 (2022)

مصطلحات موضوعية: Pediatric, Musculoskeletal, Fibrolipomatous hamartoma, Macrodystrophia lipomatosa, Syndactyly, Macrodactyly, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043321008372; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/e4a27bad9221465f8f96493564163b66

المؤلفون: Kristin Francken, Tjeerd Jager, Johan Vanlauwe, Johan de Mey, Maryam Shahabpour, Michel De Maeseneer

المصدر: Journal of the Belgian Society of Radiology, Vol 106, Iss 1 (2022)

مصطلحات موضوعية: lipomatosis of nerve fibrolipomatous hamartoma, us macrodystrophia lipomatosa macrodactyly, us, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: https://www.jbsr.be/articles/2849; https://doaj.org/toc/2514-8281

URL الوصول: https://doaj.org/article/2200bd2c48ed411c8b35592361843bf3

المؤلفون: Wei Chen, Xiaofei Tian, Lu Chen, Wei Huang

المصدر: Journal of Orthopaedic Surgery and Research, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Macrodactyly of the foot, Clinical characteristics, Foot malformation, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1749-799X

URL الوصول: https://doaj.org/article/b3b1b346c3c3437290d6138a320d6a77

المؤلفون: C.J. Jacobs, M. Vreeburg, C.E.M. de Die-Smulders, H.M. Staal, T. Lauwers

المصدر: JPRAS Open, Vol 26, Iss , Pp 86-90 (2020)

مصطلحات موضوعية: Macrodystrophia lipomatosa, Macrodactyly, PIK3CA mutation, Partial amputation, Carpal bones stability, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352587820300450; https://doaj.org/toc/2352-5878

URL الوصول: https://doaj.org/article/e12358f2e6fd485fa7a4fb6268e8e538

المؤلفون: Wen Tian, Yingzhao Huang, Liying Sun, Yang Guo, Sen Zhao, Mao Lin, Xiying Dong, Wenyao Zhong, Yuehan Yin, Zefu Chen, Nan Zhang, Yuanqiang Zhang, Lianlei Wang, Jiachen Lin, Zihui Yan, Xinzhuang Yang, Junhui Zhao, Guixing Qiu, Jianguo Zhang, Zhihong Wu, Nan Wu, (Deciphering Disorders Involving Scoliosis, COmorbidities) study group

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Macrodactyly, Phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA), AKT1 serine/threonine kinase 1 (AKT1), Somatic mosaicism, Proteus syndrome, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01572-9; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a62046b0c2114c88ac5c13072584d84c

المؤلفون: Luis Adiel Medrano-Danes, Francisco Rafael Espinosa-Leal, Roberto Ceniceros-Marrufo, Edelmiro Pérez-Rodríguez, Jesús Dante Guerra-Leal

المصدر: Iberoamerican Journal of Medicine, Vol 2, Iss 2, Pp 127-130 (2020)

مصطلحات موضوعية: lipofibromatous hamartoma, median nerve, carpal tunnel, magnetic resonance, macrodactyly, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2695-5075

URL الوصول: https://doaj.org/article/32064f7c4e4b4020b1489fbd8ca4f9d8

المؤلفون: S K Gupta, Saurabh Singh, Kameshwar Singh, Vivek Maurya

المصدر: Advance Research Journal of Multidisciplinary Discoveries, 75(1), 05-07, (2022-09-10)

مصطلحات موضوعية: Macrodactyly, congenital anomaly, fibrofatty tissue, congenital deformity syndrome

Relation: https://doi.org/10.5281/zenodo.7066421; https://doi.org/10.5281/zenodo.7066422; oai:zenodo.org:7066422

الاتاحة: https://doi.org/10.5281/zenodo.7066422

المؤلفون: Jorge Barraza‐Silva, Roberto Berebichez‐Fridman, Lilia Edith Corona‐Cobian, Laura Montserrat Bernal‐López, Raúl Álvarez‐San Martín

المصدر: Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: lipofibromatous hamartoma, macrodactyly, median nerve, median nerve tumor, nerve compression, peripheral nerve, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/1a65574564384f0a970bacc1b30b524d

المؤلفون: Amita Ray, Debjani Goswami, Rahul Chatterjee, Oindrila Roy

المصدر: New Indian Journal of OBGYN, Vol 6, Iss 2, Pp 131-134 (2020)

مصطلحات موضوعية: macrodactyly, syndactyly, arthrogyrposis, ovarian cyst, proteus syndrome, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://journal.barpetaogs.co.in/pdf/06131.pdf; https://doaj.org/toc/2454-2334; https://doaj.org/toc/2454-2342

URL الوصول: https://doaj.org/article/ebead84390134944b6fcfad618026d63

المؤلفون: K Gunasekaran, N Sundareswaran, G Gopinath

المصدر: Indian Journal of Dermatology, Vol 65, Iss 5, Pp 409-413 (2020)

مصطلحات موضوعية: enlarged extremities, focal gigantism, macrodactyly, macrodystrophia lipomatosa, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2020;volume=65;issue=5;spage=409;epage=413;aulast=Gunasekaran; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611

URL الوصول: https://doaj.org/article/ca90150ede4b4e178bacff60d3b02ac7