المؤلفون: Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione, Emilio Casalini, Silvia Russo, Daniela Fava, Marta Bassi, Flavia Napoli, Anna Elsa Maria Allegri, Giuseppe D’Annunzio, Roberto Gastaldi, Mohamad Maghnie, Natascia Di Iorgi

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: puberty, bone age, silver russell syndrome, 11p15 LOM, mUPD7, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1172736/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/2157d110a282474c99eb73597a384b3fTest

المؤلفون: Felipe Luz Torres Silva, Juliana Silveira Ruas, Mayara Ferreira Euzébio, Iva Loureiro Hoffmann, Thais Junqueira, Helder Tedeschi, Luiz Henrique Pereira, Alejandro Enzo Cassone, Izilda Aparecida Cardinalli, Ana Luiza Seidinger, Patricia Yoshioka Jotta, Mariana Maschietto

المصدر: Cancers, Vol 15, Iss 17, p 4256 (2023)

مصطلحات موضوعية: 11p15, ICR1, ICR2, DNA methylation, embryonic tumors, medulloblastoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/15/17/4256Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/8b46904769ce415997fa8fed54fbab3cTest

المؤلفون: Beyhan Tüysüz, Serdar Bozlak, Dilek Uludağ Alkaya, Süheyla Ocak, Büşra Kasap, Evrim Sunamak Çifçi, Ali Seker, Ilhan Avni Bayhan, Hilmi Apak

المصدر: Cancers; Volume 15; Issue 6; Pages: 1872

مصطلحات موضوعية: 11p15 methylation defects, Beckwith–Wiedemann spectrum, lateralized overgrowth, Wilms tumor, embryonal tumors

وصف الملف: application/pdf

العلاقة: Pediatric Oncology; https://dx.doi.org/10.3390/cancers15061872Test

الإتاحة: https://doi.org/10.3390/cancers15061872Test

المؤلفون: Tuysuz, Beyhan, Bozlak, Serdar, Uludag Alkaya, Dilek, Ocak, Suheyla, Kasap, Busra, Sunamak Cifci, Evrim, Seker, Ali

مصطلحات موضوعية: 11p15 methylation defects, Beckwith-Wiedemann spectrum, lateralized overgrowth, Wilms tumor, embryonal tumors, Isolated Hemihyperplasia, Cancer-Risk, Management, Diagnosis, Phenotype

وصف الملف: application/pdf

العلاقة: Cancers; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3390/cancers15061872Test; https://hdl.handle.net/20.500.12831/12242Test; 15; WOS:000954597500001; 2-s2.0-85151478358

الإتاحة: https://doi.org/10.3390/cancers15061872Test
https://doi.org/20.500.12831/12242Test
https://hdl.handle.net/20.500.12831/12242Test

المؤلفون: Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione, Emilio Casalini, Silvia Russo, Daniela Fava, Marta Bassi, Flavia Napoli, Anna Elsa Maria Allegri, Giuseppe D’Annunzio, Roberto Gastaldi, Mohamad Maghnie, Natascia Di Iorgi

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: puberty, bone age, silver russell syndrome, 11p15 LOM, mUPD7, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.975511/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/6d3d40a3253d447497bb22f2eb81f286Test

المؤلفون: Boss, Marti, Rottenburger, Christof, Brenner, Winfried, Blankenstein, Oliver, Prasad, Vikas, Prasad, Sonal, de Coppi, Paolo, Kuhnen, Peter, Buitinga, Mijke, Nuutila, Pirjo, Otonkoski, Timo, Hussain, Khalid, Brom, Maarten, Eek, Annemarie, Bomanji, Jamshed, Shah, Pratik, Gotthardt, Martin

المساهمون: Helsinki One Health (HOH), STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, HUS Children and Adolescents, Clinicum, Research Programs Unit, Timo Pyry Juhani Otonkoski / Principal Investigator, Children's Hospital

مصطلحات موضوعية: congenital hyperinsulinism, focal CHI, diagnostic imaging, Ga-68-NODAGA-exendin-4 PET/CT, F-18-DOPA PET/CT, 11P15 IMPRINTED GENES, DIAGNOSIS, LOCALIZATION, MANAGEMENT, MUTATION, CHILDREN, INFANCY, DIFFUSE, FORMS, 3126 Surgery, anesthesiology, intensive care, radiology

وصف الملف: application/pdf

العلاقة: This work was supported by BetaCure (FP7/2014-2018, grant 602812) . PET/MRI use at Charite? University Hospital was sup-ported by Deutsche Forschungsgemeinschaft (INST 335/543-1 FUGG) . Martin Gotthardt is an inventor on, and holder of, the pat-ent "Invention Affecting GLP-1 and Exendin" (Philipps-Uni-versitaEurot Marburg, June 17, 2009) . Paolo De Coppi is supported by NIHR BRC Great Ormond Street Hospital. No other potential con-flict of interest relevant to this article was reported.; Boss , M , Rottenburger , C , Brenner , W , Blankenstein , O , Prasad , V , Prasad , S , de Coppi , P , Kuhnen , P , Buitinga , M , Nuutila , P , Otonkoski , T , Hussain , K , Brom , M , Eek , A , Bomanji , J , Shah , P & Gotthardt , M 2022 , ' Ga-68-NODAGA-Exendin-4 PET/CT Improves the Detection of Focal Congenital Hyperinsulinism ' , The Journal of Nuclear Medicine , vol. 63 , no. 2 , pp. 310-315 . https://doi.org/10.2967/jnumed.121.262327Test; 3695c5b5-15aa-4d91-b429-1a40639e9ecc; http://hdl.handle.net/10138/342040Test; 000749772400024

الإتاحة: http://hdl.handle.net/10138/342040Test

المؤلفون: Özer, E., Geyik, F., Ünkar, Z.A., Ercan, O., Tüysüz, B.

مصطلحات موضوعية: 11p15 hypomethylation, Intrauterine growth restriction, Metabolic disorder, MLPA, Short stature, Silver-Russell syndrome, adolescent, Article, birth length, bone age, child, chromosome 11p, chromosome 14q, chromosome 20q, chromosome 6q, chromosome 7p, chromosome 7q, clinodactyly, controlled study, cryptorchism, dyslipidemia, female, follow up, frontal bossing, head circumference, human, human chromosome, hypercalciuria, hyperlipidemia, hypospadias

العلاقة: Molecular Syndromology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1159/000518630Test; https://hdl.handle.net/20.500.12831/17870Test; 13; 108; 116; 2-s2.0-85117445651

الإتاحة: https://doi.org/10.1159/000518630Test
https://doi.org/20.500.12831/17870Test
https://hdl.handle.net/20.500.12831/17870Test

المؤلفون: Emilia Modolo Pinto, Carlos Rodriguez-Galindo, Catherine G. Lam, Robert E. Ruiz, Gerard P. Zambetti, Raul C. Ribeiro

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: Beckwith-Wiedemann syndrome, adrenocortical cancer, hemihypertrophia, chromosome 11p15, TP53, UPD, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.756523/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/b185a85e41364ff1b358316a95e9282aTest

المؤلفون: Juan Chen, Jian Xu, Yang Yu, Ling Sun

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Beckwith–Wiedemann syndrome, 11p15, MLPA, azoospermia, imprinting, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.621096/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/f87c225b845a4988b77339c9832bf411Test

المؤلفون: Burgevin, Mélissa, Lacroix, Agnès, Brown, Genavee, Mikaty, Myriam, Coutinho, Virginie, Netchine, Irène, Odent, Sylvie

المساهمون: Laboratoire de Psychologie : Cognition, Comportement, Communication (LP3C - EA1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest Rennes, NCI NIH HHS P50 CA180908

المصدر: ISSN: 2327-9095 ; EISSN: 2327-9109.

مصطلحات موضوعية: intellectual assessment, adults, Silver-Russell syndrome, 11p15 Epimutation, cognitive profile, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31390893; hal-02277998; https://univ-rennes.hal.science/hal-02277998Test; https://univ-rennes.hal.science/hal-02277998/documentTest; https://univ-rennes.hal.science/hal-02277998/file/Burgevin%20et%20al%20-%202021%20-%20Intellectual%20functioning%20in%20Silver-Russellsyndrome.pdfTest; PUBMED: 31390893

الإتاحة: https://doi.org/10.1080/23279095.2019.1644643Test
https://univ-rennes.hal.science/hal-02277998Test
https://univ-rennes.hal.science/hal-02277998/documentTest
https://univ-rennes.hal.science/hal-02277998/file/Burgevin%20et%20al%20-%202021%20-%20Intellectual%20functioning%20in%20Silver-Russellsyndrome.pdfTest