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1دورية أكاديمية
المؤلفون: M. A. Sokolova, E. A. Sarkisyan, P. V. Shumilov, L. D. Vorona, L. A. Levchenko, Yu. L. Ishutina, E. I. Shabelnikova, A. I. Krapivkin, М. А. Соколова, Е. А. Саркисян, П. В. Шумилов, Л. Д. Ворона, Л. А. Левченко, Ю. Л. Ишутина, Е. И. Шабельникова, А. И. Крапивкин
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 1 (2024); 78-85 ; Российский вестник перинатологии и педиатрии; Том 69, № 1 (2024); 78-85 ; 2500-2228 ; 1027-4065
مصطلحات موضوعية: ген FGFR3, Crouzon syndrome, craniosynostosis, exophthalmos, hypertelorism, maxillary micrognathia, FGFR2 gene, FGFR3 gene, синдром Крузона, краниосиностоз, экзофтальм, гипертелоризм, микрогнатия верхней челюсти, ген FGFR2
وصف الملف: application/pdf
العلاقة: https://www.ped-perinatology.ru/jour/article/view/1942/1462Test; Sawh-Martinez R., Steinbacher D.M. Syndromic Craniosynostosis. Clin Plast Surg 2019; 46(2): 141–155. DOI:10.1016/j.cps.2018.11.009; Conrady C.D., Patel B.C. Crouzon Syndrome. StatPearls Publishing; 2023 Aug; PMID: 30085540. https://www.ncbi.nlm.nih.gov/books/NBK518998Test / Ссылка активна на 12. 12. 2023.; Кулаков А.А. Челюстно-лицевая хирургия. Под ред. А.А. Кулакова. Москва: ГЭОТАР-Медиа, 2019; 692 с.; Cunningham M.L., Seto M.L., Ratisoontorn C., Heike C.L., Hing A.V. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res 2007; 10(2): 67–81. DOI:10.1111/j.1601–6343.2007.00389.x; Pal U.S., Gupta C., Chellappa A.A. Crouzon syndrome with primary optic nerve atrophy and normal brain functions : A case report. J Oral Biol Craniofac Res 2012; 2(2): 116–118. DOI:10.1016/j.jobcr.2012.03.011; Reardon W., Winter R.M., Rutland P., Pulleyn L.J., Jones B.M., Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8(1): 98–103.; Di Rocco F., Collet C., Legeai-Mallet L., Arnaud E., Le Merrer M., Hadj-Rabia S., Renier D. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst 2011; 27(3): 349–354. DOI:10.1007/s00381–010–1347-z; Mathijssen I.M. Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis. J Craniofac Surg 2015; 26(6): 1735–1807. URL: https://www.researchgate.net/publication/281682735_Guideline_for_Care_of_Patients_With_the_Diagnoses_of_Craniosynostosis_Working_Group_on_CraniosynostosisTest; Kim H.J., Roh H.G., Lee I.W. Craniosynostosis: Updates in Radiologic Diagnosis. J Korean Neurosurg Soc 2016; 59(3): 219–226. DOI:10.3340/jkns.2016.59.3.219; Ciurea AV, Toader C. Genetics of craniosynostosis : review of the literature. J Med Life 2009; 2(1): 5–17.; Vargervik K., Rubin M.S., Grayson B.H., Figueroa A.A., Kreiborg S., Shirley J.C. et al. Parameters of care for craniosynostosis: dental and orthodontic perspectives. Am J Orthod Dentofacial Orthop 2012; 141(4 Suppl): S68–73. DOI:10.1016/j.ajodo.2011.12.013; Raybaud C., Di Rocco C. Brain malformation in syndromic craniosynostoses, a primary disorder of white matter : a review. Childs Nerv Syst 2007; 23(12): 1379–1388. DOI:10.1007/s00381–007–0474–7; Conrady C.D., Patel B.C., Sharma S. Apert Syndrome. Stat-Pearls Publishing; 2023 Jan; PMID: 30085535. https://pubmed.ncbi.nlm.nih.gov/30085535Test / Ссылка активна на 12. 12. 2023.; Wilkie A.O., Slaney S.F., Oldridge M., Poole M.D., Ashworth G.J., Hockley A.D. et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9(2): 165–172.; Fearon J.A. Treatment of the hands and feet in Apert syndrome: an evolution in management. Plast Reconstr Surg 2003; 112(1): 1–12. URL: https://www.researchgate.net/publication/10685177_Treatment_of_the_Hands_and_Feet_in_Apert_Syndrome_An_Evolution_in_ManagementTest; Betances E.M., Mendez M.D., Das J. Craniosynostosis. Stat-Pearls Publishing 2023; PMID: 31335086. https://pubmed.ncbi.nlm.nih.gov/31335086Test / Ссылка активна на 12.12.2023.; Kalathia M.B., Parikh Y.N., Dhami M.D., Hapani P.T. Pfeiffer syndrome. J Pediatr Neurosci 2014; 9(1): 85–86. URL: https://www.researchgate.net/publication/262816749_Pfeiffer_syndromeTest; Клинические рекомендации ассоциации генетиков и неврологов 2017 «Диагностика и лечение синдрома Пфайффера». https://med-gen.ru/docs/pfayfer.pdfTest / Ссылка активна на 12. 12. 2023.; Taylor J.A., Bartlett S.P. What’s New in Syndromic Craniosynostosis Surgery? Plast Reconstr Surg 2017; 140(1): 82e–93e. URL: https://www.researchgate.net/publication/318163206_WhatTest's_New_in_Syndromic_Craniosynostosis_Surgery; Azoury S.C., Reddy S., Shukla V., Deng C.X. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci 2017; 13(12): 1479–1488. DOI:10.7150/ijbs.22373; Graul-Neumann L.M., Klopocki E., Adolphs N., Mensah M.A., Kress W. Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. Mol Syndromol 2017; 8(2): 93–97. DOI:10.1159/000455028; Kutkowska-Kaźmierczak A., Gos M., Obersztyn E. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. J Appl Genet 2018; 59(2) :133–147. DOI:10.1007/s13353–017–0423–4; Snyder-Warwick A.K., Perlyn C.A., Pan J., Yu K., Zhang L., Ornitz D.M. Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. Proc Natl Acad Sci USA 2010; 107(6): 2515–20. DOI:10.1073/pnas.0913985107; Carter E.P., Fearon A.E., Grose R.P. Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction. Trends Cell Biol 2015; 25(4): 221–233. DOI:10.1016/j.tcb.2014.11.003; Kapp-Simon K.A., Speltz M.L., Cunningham M.L., Patel P.K., Tomita T. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst 2007; 23(3): 269–281. DOI:10.1007/s00381–006–0251-z; https://www.ped-perinatology.ru/jour/article/view/1942Test
الإتاحة: https://doi.org/10.21508/1027-4065-2024-69-1-78-85Test
https://doi.org/10.1016/j.cps.2018.11.009Test
https://doi.org/10.1111/j.1601Test–6343.2007.00389.x
https://doi.org/10.1016/j.jobcr.2012.03.011Test
https://doi.org/10.1007/s00381Test–010–1347-z
https://doi.org/10.3340/jkns.2016.59.3.219Test
https://doi.org/10.1016/j.ajodo.2011.12.013Test
https://doi.org/10.1007/s00381Test–007–0474–7
https://doi.org/10.7150/ijbs.22373Test
https://doi.org/10.1159/000455028Test -
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المصدر: Genome Medicine EpiHealth: Epidemiology for Health. 15(1)
مصطلحات موضوعية: Breast cancer susceptibility, Diverse ancestry, Gene regulation, Genome-wide association study, Rare variants, African, ancestry group, Article, Asian, boredom susceptibility, breast cancer, cancer prognosis, CBLB gene, cohort analysis, controlled study, ESR1 gene, European, FGFR2 gene, FMNL3 gene, gene base aggregation, gene expression level, gene structure, genetic association, genetic association study, genetic code, genetic variability, Hispanic, human, human cell, human tissue, LSP1 gene, major clinical study, MAP3K1 gene, meta analysis (topic), South and Central America, SRGAP2C gene, statistical significance, tumor-related gene, Black person, breast tumor, female, genetic predisposition, genetic screening, genetics, genome-wide association study, meta analysis, procedures, single nucleotide polymorphism, FMNL3 protein, methenamine, Black People, Breast Neoplasms, Female, Formins, Genetic Predisposition to Disease, Genetic Testing, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics, Klinisk medicin, Cancer och onkologi, Clinical Medicine, Cancer and Oncology
الوصول الحر: https://lup.lub.lu.se/record/03b290d6-d650-490a-9e52-2fcb867a25b3Test
http://dx.doi.org/10.1186/s13073-022-01152-5Test -
3دورية أكاديمية
المؤلفون: V.V. Antsupva, I.V. Lastivka, D.V. Kolubakin, I.A. Ushko, О.V. Nahornyi
المصدر: Медична наука України, Vol 16, Iss 4, Pp 46-50 (2020)
مصطلحات موضوعية: acrocephalosyndactyly, apert syndrome, fgfr2 gene mutations, syndromic craniostosis, craniofacial dysostosis, Medicine
وصف الملف: electronic resource
العلاقة: https://msu-journal.com/index.php/journal/article/view/248Test; https://doaj.org/toc/2664-472XTest; https://doaj.org/toc/2664-4738Test
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4دورية أكاديمية
المؤلفون: Malak Alghamdi, Taghreed R. Alhumsi, Ikhlass Altweijri, Waleed H. Alkhamis, Omar Barasain, Kelly J. Cardona-Londoño, Reshmi Ramakrishnan, Francisco J. Guzmán-Vega, Stefan T. Arold, Ghaida Ali, Nouran Adly, Hebatallah Ali, Ahmed Basudan, Muhammed A. Bakhrebah
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: craniosynostosis, trigonocephaly, TCF12 gene, exome sequencing, FGFR2 gene, ALPL gene, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.582816/fullTest; https://doaj.org/toc/2296-2360Test
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5دورية أكاديمية
المؤلفون: Murillo-Zamora, Efrén, Moreno-Macías, Hortensia, Ziv, Elad, Romieu, Isabelle, Lazcano-Ponce, Eduardo, Ángeles-Llerenas, Angélica, Pérez-Rodríguez, Edelmiro, Vidal-Millán, Silvia, Fejerman, Laura, Torres-Mejía, Gabriela
المصدر: Archives of Medical Research. 44(6)
مصطلحات موضوعية: Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Clinical Research, Alcoholism, Alcohol Use and Health, Cancer, Substance Misuse, Breast Cancer, Prevention, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Adult, Alcohol Drinking, Alleles, Breast Neoplasms, Case-Control Studies, Comorbidity, Diabetes Mellitus, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Genotype, Humans, Mexico, Middle Aged, Parity, Polymorphism, Single Nucleotide, Prevalence, Receptor, Fibroblast Growth Factor, Type 2, Risk Factors, Smoking, Social Class, rs2981582 single nucleotide polymorphism, FGFR2 gene, Breast cancer, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9nn915kmTest
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6دورية أكاديمية
المصدر: Journal of Cellular and Molecular Anesthesia, Vol 2, Iss 1, Pp 15-18 (2017)
مصطلحات موضوعية: Crouzon Syndrome, FGFR2 gene, Difficult Intubation, Anesthesia, Anesthesiology, RD78.3-87.3
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Nicotera AG, Amore G, Saia MC, Vinci M, Musumeci A, Chiavetta V, Federico C, Spoto G, Saccone S, Di Rosa G, Calì F.
المساهمون: Nicotera, Ag, Amore, G, Saia, Mc, Vinci, M, Musumeci, A, Chiavetta, V, Federico, C, Spoto, G, Saccone, S, Di Rosa, G, Calì, F.
مصطلحات موضوعية: Autism, FGFR2 gene, Human chromosome 10, Intellectual disability, Missense mutation, Sanger sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37733178; volume:25; issue:4; firstpage:650; lastpage:656; numberofpages:7; journal:neuromolecular medicine; https://hdl.handle.net/11570/3284675Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85171787540
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8
المؤلفون: Lesch, Bluma (Bibi), George, Renee
مصطلحات موضوعية: sperm, sperm biology, haploid cells, sperm development, selective forces, meiotic cell division, protamines, fertilization, evolutionary analysis, reproductive biology, spermatogenesis, spermatogenic cycle, germline mutations, FGFR2 gene, germ line selection, Fragile X syndrome, Meiotic recombination, sperm bundling, Sperm Cooperation, sperm competition
جغرافية الموضوع: Fall 2014
الوقت: 260404
وصف الملف: text/plain; text/html; image/jpeg; application/pdf; application/octet-stream; text/css; image/png; image/gif; application/rdf+xml; charset=utf-8
العلاقة: 7.345-Fall2014; 7.345; IMSCP-MD5-aa347dce663e40a3f83c0692f7eaa65a; https://hdl.handle.net/1721.1/148324Test
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9دورية أكاديمية
المؤلفون: L Balyen, L S Deniz Balyen, S Pasa
المصدر: Oman Journal of Ophthalmology, Vol 10, Iss 2, Pp 120-122 (2017)
مصطلحات موضوعية: Crouzon syndrome, craniosynostosis, FGFR2 gene mutations, Ophthalmology, RE1-994
وصف الملف: electronic resource
العلاقة: http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=2;spage=120;epage=122;aulast=BalyenTest; https://doaj.org/toc/0974-620XTest
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10تقرير
المؤلفون: Cammarata-Scalisi,Francisco, Yilmaz,Elanur, Callea,Michele, Avendaño,Andrea, Mıhçı,Ercan, Alper,Ozgul M.
المصدر: Boletín médico del Hospital Infantil de México v.76 n.1 2019
وصف الملف: text/html