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

Relation: https://www.ped-perinatology.ru/jour/article/view/1942/1462; 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/NBK518998 / 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_Craniosynostosis; 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/30085535 / 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_Management; Betances E.M., Mendez M.D., Das J. Craniosynostosis. Stat-Pearls Publishing 2023; PMID: 31335086. https://pubmed.ncbi.nlm.nih.gov/31335086 / 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_syndrome; Клинические рекомендации ассоциации генетиков и неврологов 2017 «Диагностика и лечение синдрома Пфайффера». https://med-gen.ru/docs/pfayfer.pdf / 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_What'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/1942

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1942
https://doi.org/10.21508/1027-4065-2024-69-1-78-85

المؤلفون: Mueller, S.H., Augustinsson, A., Olsson, H., Kuchenbaecker, Karoline B.

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

URL الوصول: https://lup.lub.lu.se/record/03b290d6-d650-490a-9e52-2fcb867a25b3
http://dx.doi.org/10.1186/s13073-022-01152-5

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

Relation: https://msu-journal.com/index.php/journal/article/view/248; https://doaj.org/toc/2664-472X; https://doaj.org/toc/2664-4738

URL الوصول: https://doaj.org/article/19707e8bb47542238b017d8b717e53e1

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

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.582816/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/5a355b3776074d378ef25f323f144fa1

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, Cancer, Alcoholism, Alcohol Use and Health, Genetics, Substance Misuse, Women's Health, Clinical Research, Breast Cancer, Prevention, 2.1 Biological and endogenous factors, 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

URL الوصول: https://escholarship.org/uc/item/9nn915km
https://escholarship.org/content/qt9nn915km/qt9nn915km.pdf

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

Relation: info:eu-repo/semantics/altIdentifier/pmid/37733178; volume:25; issue:4; firstpage:650; lastpage:656; numberofpages:7; journal:neuromolecular medicine; https://hdl.handle.net/11570/3284675; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85171787540

الاتاحة: https://hdl.handle.net/11570/3284675
https://doi.org/10.1007/s12017-023-08759-w

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

Relation: http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=2;spage=120;epage=122;aulast=Balyen; https://doaj.org/toc/0974-620X

URL الوصول: https://doaj.org/article/777a1ffa91954273bd6d84ff8f976a48

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

Time: 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

Relation: 7.345-Fall2014; 7.345; IMSCP-MD5-aa347dce663e40a3f83c0692f7eaa65a; https://hdl.handle.net/1721.1/148324

الاتاحة: https://hdl.handle.net/1721.1/148324

المؤلفون: Aniko Maria Manea, Nicoleta Kiritescu, Dobre Mihaela, Mariana Boia

المصدر: Romanian Journal of Pediatrics, Vol 65, Iss 1, Pp 60-62 (2016)

مصطلحات موضوعية: crouzon’s syndrome, fgfr2 gene, craniosinostosys, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2016-Nr.1/EN/RJP_2016_1_EN_Art-12.pdf; https://doaj.org/toc/1454-0398; https://doaj.org/toc/2069-6175

URL الوصول: https://doaj.org/article/f27abfc01ad4456b9103c3bb818ecf4d

المؤلفون: Majid Motovali-Bashi, Mahsa Gholampur

المصدر: مجله دانشکده پزشکی اصفهان, Vol 32, Iss 279, Pp 359-367 (2014)

مصطلحات موضوعية: Breast cancer, Single nucleotide polymorphism, FGFR2 gene, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://jims.mui.ac.ir/index.php/jims/article/view/3550; https://doaj.org/toc/1027-7595; https://doaj.org/toc/1735-854X

URL الوصول: https://doaj.org/article/bc421e5657404bf1ba5f7d3ec38ea175

المؤلفون: Shinji Endo, Hiroyasu Ishida, Mikio Sato, Yoshiaki Shimizu, Takeshi Yamada, Keiko Minashi, Hisashi Hosaka, Kohei Shitara, Toshiro Kamoshida, Atsuko Soeda, Hirokazu Kiyozaki, Yoshinori Sakai, Kenji Amagai

المصدر: Japanese Journal of Clinical Oncology

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.medical_specialty, medicine.medical_treatment, Gastroenterology, FGFR2 gene amplification, 03 medical and health sciences, 0302 clinical medicine, Japan, Stomach Neoplasms, Internal medicine, Gene duplication, medicine, Humans, AcademicSubjects/MED00300, Radiology, Nuclear Medicine and imaging, Receptor, Fibroblast Growth Factor, Type 2, In Situ Hybridization, Fluorescence, Chemotherapy, integumentary system, medicine.diagnostic_test, Fibroblast growth factor receptor 2, business.industry, gastric cancer, Gene Amplification, Cancer, General Medicine, medicine.disease, Chemotherapy regimen, stomatognathic diseases, 030104 developmental biology, Oncology, immunohistochemical staining, 030220 oncology & carcinogenesis, fluorescent in situ hybridization, Adenocarcinoma, Immunohistochemistry, Original Article, business, FGFR2 overexpression, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea634d0673bed12f111da3c062732b1
https://doi.org/10.1093/jjco/hyab104

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

مصطلحات موضوعية: Apert syndrome. Clinical. FGFR2 gene. c.755C>G, p.Ser252Trp. Genetic counseling

وصف الملف: text/html

الاتاحة: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462019000100044

المؤلفون: Safari, Farhad, Mottaghi, Kamran, Fallahinejadghajari, Rofeideh, Nashibi, Masoud

المصدر: Journal of Cellular & Molecular Anesthesia; Vol. 2 No. 1 (2017): January 2017; 15-18 ; 2476-5120 ; 2538-2462

مصطلحات موضوعية: Crouzon Syndrome, FGFR2 gene, Difficult Intubation, Anesthesia

وصف الملف: application/pdf

Relation: https://journals.sbmu.ac.ir/jcma/article/view/14905/11910; https://journals.sbmu.ac.ir/jcma/article/view/14905

الاتاحة: https://journals.sbmu.ac.ir/jcma/article/view/14905
https://doi.org/10.22037/jcma.v2i1.14905

المؤلفون: I.V. Lastivka, V.V. Antsupva, I.A. Ushko, D.V. Kolubakin, О.V. Nahornyi

المصدر: Медична наука України, Vol 16, Iss 4, Pp 46-50 (2020)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Rehabilitation, business.industry, medicine.medical_treatment, lcsh:R, lcsh:Medicine, 030206 dentistry, Apert syndrome, Disease, 030204 cardiovascular system & hematology, medicine.disease, Surgical methods, 03 medical and health sciences, 0302 clinical medicine, medicine, acrocephalosyndactyly, apert syndrome, fgfr2 gene mutations, syndromic craniostosis, craniofacial dysostosis, Clinical case, Syndactyly, MULTIPLE MALFORMATIONS, business, Multiple congenital malformations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::088f5a4990febb3ab0b39312e1ab9dec
https://msu-journal.com/index.php/journal/article/view/248

المؤلفون: Torres L., Hernández G., Barrera A., Ospina S., Prada R.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Fibroblast growth factor receptor 2, Acrocephalosyndactyly, Article, Brachycephaly, Case report, Computer assisted tomography, Exon, Fgfr2 gene, Gene, Gene mutation, Human, Hypertelorism, Male, Midface hypoplasia, Molecular diagnosis, Polymerase chain reaction, Skin aplasia, Syndactyly, Dna sequence, Female, Gene amplification, Genetics, Mutation, Pathophysiology, Acrocephalosyndactylia, Exons, Humans, Apert syndrome, Cleft palate, Intron

وصف الملف: application/pdf

Relation: https://repository.urosario.edu.co/handle/10336/23734

الاتاحة: https://repository.urosario.edu.co/handle/10336/23734

المؤلفون: Torres, Lilian, Hernández, Gualberto, Barrera, Alejandro, Ospina, Sandra, Prada, Rolando

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Síndrome Apert, Paladar endido, Mutación, Intrón, Gene FGRFR2, Apert syndrome, Cleft palate, Mutation, Intron, FGFR2 gene

وصف الملف: application/pdf

Relation: EISSN: 1657-9534; https://repository.urosario.edu.co/handle/10336/25725; https://doi.org/10.25100/cm.v46i3.1868

الاتاحة: https://repository.urosario.edu.co/handle/10336/25725
https://doi.org/10.25100/cm.v46i3.1868

المؤلفون: Shi, Huijun, Yang, Jie, Guo, Qingmin, Zhang, Minglian

المصدر: Medicine

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, China, Heterozygote, genetic structures, DNA Mutational Analysis, Mutation, Missense, Crouzon syndrome, Optic Atrophies, Hereditary, Humans, Clinical Case Report, Fluorescein Angiography, Receptor, Fibroblast Growth Factor, Type 2, Craniofacial Dysostosis, optic nerve atrophy, Optic Nerve, Exons, Magnetic Resonance Imaging, eye diseases, Pedigree, Female, sense organs, FGFR2 gene, mutation, Tomography, X-Ray Computed, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::093d14310d49f2e2399524bc73caeb58
http://europepmc.org/articles/PMC7969214

المساهمون: Ying Wu, He Gao, Huaixing Li, Yasuharu Tabara, Masahiro Nakatochi, Yen-Feng Chiu, Eun Jung Park, Wanqing Wen, Linda S. Adair, Judith B. Borja, Qiuyin Cai, Yi-Cheng Chang, Peng Chen, Damien C. Croteau-Chonka, Marie P. Fogarty, Wei Gan, Chih-Tsueng He, Chao A. Hsiung, Chii-Min Hwu, Sahoko Ichihara, Michiya Igase, Jaeseong Jo, Norihiro Kato, Ryuichi Kawamoto, Christophor W. Kuzawa, Jeannette J.M. Lee, Jianjun Liu, Ling Lu, Thomas W. Mcdade, Haruhiko Osawa, Wayne H-H. Sheu, Yvonne Teo, Swarooparani Vadlamudi, Rob M. Van Dam, Yiqin Wang, Yong-Bing Xiang, Ken Yamamoto, Xingwang Ye, Terri L. Young, Wei Zheng, Jingwen Zhu, Xiao-Ou Shu, Chol Shin, Sun Ha Jee, Lee-Ming Chuang, Tetsuro Miki, Mitsuhiro Yokota, Xu Lin, Karen L Mohlk, E Shyong Tai, Jee, Sun Ha

مصطلحات موضوعية: Adiponectin/blood, Asian Continental Ancestry Group, Cardiovascular Diseases/blood, Cardiovascular Diseases/genetics, Cohort Studies, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Membrane Proteins/genetics, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins/genetics, Receptor, Fibroblast Growth Factor, Type 2/genetics, obesity, high density lipoprotein cholesterol, triglycerides, body mass index procedure, conditioning (psychology), follow-up, genome, single nucleotide polymorphism, genetics, lipids, adiponectin, asian, fgfr2 gene, paroxysmal extreme pain disorder

وصف الملف: 1108~1119

Relation: HUMAN MOLECULAR GENETICS; J01008; OAK-2014-00841; https://ir.ymlib.yonsei.ac.kr/handle/22282913/98761; http://hmg.oxfordjournals.org/content/23/4/1108.long; T201401410; HUMAN MOLECULAR GENETICS, Vol.23(4) : 1108-1119, 2014

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/98761
https://doi.org/10.1093/hmg/ddt488
http://hmg.oxfordjournals.org/content/23/4/1108.long

المؤلفون: Malak Alghamdi (10657583), Taghreed R. Alhumsi (10657586), Ikhlass Altweijri (10657589), Waleed H. Alkhamis (10657592), Omar Barasain (10657595), Kelly J. Cardona-Londoño (10657598), Reshmi Ramakrishnan (4968649), Francisco J. Guzmán-Vega (9960266), Stefan T. Arold (261112), Ghaida Ali (10657601), Nouran Adly (2553607), Hebatallah Ali (6265127), Ahmed Basudan (9771999), Muhammed A. Bakhrebah (9612898)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, craniosynostosis, trigonocephaly, TCF12 gene, exome sequencing, FGFR2 gene, ALPL gene, TWIST1 gene

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Clinical_and_Genetic_Characterization_of_Craniosynostosis_in_Saudi_Arabia_DOCX/14430575

الاتاحة: https://doi.org/10.3389/fped.2021.582816.s001

المؤلفون: Xiaoling Liang, Yi Zhu, Y. Liu, Yonghao Li, Hongbin Gao, Chuan Chen, Hongye Jiang, Chenjin Jin, Bingqian Liu, Qingxiu Wu, Lin Lu, Jacob V.P. Eswarakumar, Ying Lin, Haichun Li, Siming Ai, Xinhua Huang, Tao Li

المصدر: Molecular Medicine Reports

مصطلحات موضوعية: Adult, musculoskeletal diseases, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Genetic counseling, Population, Prenatal diagnosis, Biology, medicine.disease_cause, Biochemistry, Crouzon syndrome, 03 medical and health sciences, Exon, 0302 clinical medicine, Asian People, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Receptor, Fibroblast Growth Factor, Type 2, education, Molecular Biology, Mutation, education.field_of_study, Fibroblast growth factor receptor 2, Craniofacial Dysostosis, Exons, Articles, medicine.disease, Pedigree, 3. Good health, 030104 developmental biology, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Molecular Medicine, Female, FGFR2 gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a761db9d618a54e5cb6d1dfdc6caeade
https://doi.org/10.3892/mmr.2017.7397