نتائج البحث - "Glentis, S."

1

Dissertation/ Thesis

Whole genome amplification for PGD and PND : molecular and a-CGH diagnosis

المؤلفون: Glentis, S.

مصطلحات موضوعية: 610

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.564674

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2

Academic Journal

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report from the SIOPE Host Genome Working Group

المؤلفون: Fruhwald, M. C., Nemes, K., Boztug, H., Cornips, M. C. A., Evans, D. G., Farah, R., Glentis, S., Jorgensen, M., Katsibardi, K., Hirsch, S., Jahnukainen, K., Kventsel, I., Kerl, K., Kratz, C. P., Pajtler, K. W., Kordes, U., Ridola, V., Stutz, E., Bourdeaut, F.

المساهمون: Children's Hospital, Clinicum, HUS Children and Adolescents, University of Helsinki, Helsinki University Hospital Area

مصطلحات موضوعية: Rhabdoid, ATRT, SMARCB1, Predisposition, Germline, Surveillance, Cancers, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Open Access funding enabled and organized by Projekt DEAL. FB is supported by the Arceci Innovation Award from the St Baldrick Foundation, the Enfants et Sante federation and the SFCE. MCF receives grants from the DFG (DFG 1516/4-1), the Deutsche Kinderkrebsstiftung (DKS2020.16) and the Deutsche Krebshilfe (DKH 70113981). DGE is supported by the Manchester NIHR Biomedical Research Centre (IS-BRC-1215-20007). CPK has been supported by the Deutsche Kinderkrebsstiftung (DKS2017.02).; Fruhwald , M C , Nemes , K , Boztug , H , Cornips , M C A , Evans , D G , Farah , R , Glentis , S , Jorgensen , M , Katsibardi , K , Hirsch , S , Jahnukainen , K , Kventsel , I , Kerl , K , Kratz , C P , Pajtler , K W , Kordes , U , Ridola , V , Stutz , E & Bourdeaut , F 2021 , ' Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report from the SIOPE Host Genome Working Group ' , Familial Cancer , vol. 20 , no. 4 , pp. 305-316 . https://doi.org/10.1007/s10689-021-00229-1; http://hdl.handle.net/10138/340145; ca13fef0-8d4a-48ae-b9b0-314dbd973fb7; 000613981800001

الاتاحة: http://hdl.handle.net/10138/340145

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3

Academic Journal

S104: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH

المؤلفون: Chappell, M, Breda, L, Guerra, A, Ghiaccio, V, Fedorky, M, Jarocha, D, Gollomp, K, Teawtrakul, N, Glentis, S, Kattamis, A, Rivella, S

المصدر: HemaSphere ; volume 6, page 2-3 ; ISSN 2572-9241

الاتاحة: http://dx.doi.org/10.1097/01.hs9.0000821384.16305.a3
https://journals.lww.com/10.1097/01.HS9.0000821384.16305.a3

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4

Academic Journal

P1521: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH

المؤلفون: Rivella, S., Chappell, M., Jarocha, D., Breda, L., Ghiaccio, V., Fedorky, M., Triebwasser, M., Guerra, A., Gollomp, K., Teawtrakul, N., Glentis, S., Kattamis, A., Abdulmalik, O.

المصدر: HemaSphere ; volume 6, page 1402-1403 ; ISSN 2572-9241

الاتاحة: http://dx.doi.org/10.1097/01.hs9.0000848940.29840.9b
https://journals.lww.com/10.1097/01.HS9.0000848940.29840.9b

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5

Academic Journal

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition:a report from the SIOPE Host Genome Working Group

المؤلفون: Frühwald, M C, Nemes, K, Boztug, H, Cornips, M C A, Evans, D G, Farah, R, Glentis, S, Jorgensen, M, Katsibardi, K, Hirsch, S, Jahnukainen, K, Kventsel, I, Kerl, K, Kratz, C P, Pajtler, K W, Kordes, U, Ridola, V, Stutz, E, Bourdeaut, F

المصدر: Frühwald , M C , Nemes , K , Boztug , H , Cornips , M C A , Evans , D G , Farah , R , Glentis , S , Jorgensen , M , Katsibardi , K , Hirsch , S , Jahnukainen , K , Kventsel , I , Kerl , K , Kratz , C P , Pajtler , K W , Kordes , U , Ridola , V , Stutz , E & Bourdeaut , F 2021 , ' Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report ....

مصطلحات موضوعية: Brain Neoplasms/genetics, Central Nervous System Neoplasms, Child, Preschool, DNA Helicases/genetics, Female, Genetic Testing, Humans, Kidney Neoplasms/genetics, Nuclear Proteins, Rhabdoid Tumor/diagnosis, SMARCB1 Protein/genetics, Transcription Factors/genetics

الاتاحة: https://research.manchester.ac.uk/en/publications/6a85284a-a260-43a0-a625-113a8892a599
https://doi.org/10.1007/s10689-021-00229-1

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6

Academic Journal

Exome sequencing in BRCA1- and BRCA2-negative Greek families identifies MDM1 and NBEAL1 as candidate risk genes for hereditary breast cancer

المؤلفون: Glentis, S, Dimopoulos, AC, Rouskas, K, Ntritsos, G, Evangelou, E, Narod, SA, Mes-Masson, A-M, Foulkes, WD, Rivera, B, Tonin, PN, Ragoussis, J, Dimas, AS

مصطلحات موضوعية: Greek population, MDM1, NBEAL1, candidate risk variants, exome sequencing, hereditary breast cancer, 0604 Genetics, 1103 Clinical Sciences, 1801 Law

جغرافية الموضوع: Switzerland

Relation: Frontiers in Genetics; http://hdl.handle.net/10044/1/79356

الاتاحة: http://hdl.handle.net/10044/1/79356
https://doi.org/10.3389/fgene.2019.01005

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Full Text Finder

7

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

المؤلفون: Frühwald, M.C. Nemes, K. Boztug, H. Cornips, M.C.A. Evans, D.G. Farah, R. Glentis, S. Jorgensen, M. Katsibardi, K. Hirsch, S. Jahnukainen, K. Kventsel, I. Kerl, K. Kratz, C.P. Pajtler, K.W. Kordes, U. Ridola, V. Stutz, E. Bourdeaut, F.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::0e187b4a1bdd8ef4978de16db7eede36
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3101903

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8

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

المؤلفون: Chen, N. Zhao, S. Jolly, A. Wang, L. Pan, H. Yuan, J. Chen, S. Koch, A. Ma, C. Tian, W. Jia, Z. Kang, J. Zhao, L. Qin, C. Fan, X. Rall, K. Coban-Akdemir, Z. Chen, Z. Jhangiani, S. Liang, Z. Niu, Y. Li, X. Yan, Z. Wu, Y. Dong, S. Song, C. Qiu, G. Zhang, S. Liu, P. Posey, J.E. Zhang, F. Luo, G. Wu, Z. Zhang, T.J. Wu, N. Wang, S. Liu, J. Liu, S. Zuo, Y. Liu, G. Yu, C. Liu, L. Shao, J. Zhao, H. Wang, H. Liu, B. Cheng, X. Lin, J. Du, H. Li, Y. Song, S. Xie, Z. Zhao, Z. Zhao, Z. Zheng, Z. Huang, Y. Su, J. Zhang, J. Chen, E.Y. Rouskas, K. Glentis, S. Bacopoulou, F. Deligeoroglou, E. Chrousos, G. Lyonnet, S. Polak, M. Rosenberg, C. Dingeldein, I. Bonilla, X. Borel, C. Gibbs, R.A. Dietrich, J.E. Dimas, A.S. Antonarakis, S.E. Brucker, S.Y. Lupski, J.R. Zhu, L. Deciphering Disorders Involving Scoliosis COmorbidities (DISCO) study group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::fd4f89e2e644e5bff6e22c223da116c5
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3076279

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9

Academic Journal

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer

المؤلفون: Glentis, S., Dimopoulos, A.C., Rouskas, K., Ntritsos, G., Evangelou, E., Narod, S.A., Mes-Masson, A.-M., Foulkes, W.D., Rivera, B., Tonin, P.N., Ragoussis, J., Dimas, A.S.

Relation: uoadl:3078079; https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078079

الاتاحة: https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078079

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10

Academic Journal

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.

المؤلفون: Frühwald, M. C., Nemes, K., Boztug, H., Cornips, M. C. A., Evans, D. G., Farah, R., Glentis, S., Jorgensen, M., Katsibardi, K., Hirsch, S., Jahnukainen, K., Kventsel, I., Kerl, K., Kratz, C. P., Pajtler, K. W., Kordes, U., Ridola, V., Stutz, E., Bourdeaut, F.

المصدر: Familial Cancer; Oct2021, Vol. 20 Issue 4, p305-316, 12p

مصطلحات موضوعية: GENETIC testing, SMALL cell carcinoma, TERATOMA, DISEASE risk factors, GENETIC disorders, ONCOLOGY, PEDIATRIC nephrology

11

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer

المؤلفون: Glentis, S. Dimopoulos, A.C. Rouskas, K. Ntritsos, G. Evangelou, E. Narod, S.A. Mes-Masson, A.-M. Foulkes, W.D. Rivera, B. Tonin, P.N. Ragoussis, J. Dimas, A.S.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::01a8fa428760d5d04c1fc51572f7f5d3
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078079

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12

Academic Journal

Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study

Relation: http://olympias.lib.uoi.gr/jspui/handle/123456789/19103

الاتاحة: http://olympias.lib.uoi.gr/jspui/handle/123456789/19103

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13

Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: Implications for genetic screening selection criteria: A Hellenic Cooperative Oncology Group Study

المؤلفون: Fostira, F. Tsitlaidou, M. Papadimitriou, C. Pertesi, M. Timotheadou, E. Stavropoulou, A.V. Glentis, S. Bournakis, E. Bobos, M. Pectasides, D. Papakostas, P. Pentheroudakis, G. Gogas, H. Skarlos, P. Samantas, E. Bafaloukos, D. Kosmidis, P.A. Koutras, A. Yannoukakos, D. Konstantopoulou, I. Fountzilas, G.

مصطلحات موضوعية: skin and connective tissue diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::8dd0969676f8cca478c2acc420dcc1b1
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3089301

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14

Academic Journal

Women's perception of information and experiences of nuchal translucency screening in Greece

المؤلفون: Gourounti, K, Lykeridou, K, Daskalakis, G, Glentis, S, Sandall, J, Antsaklis, A

المصدر: Gourounti , K , Lykeridou , K , Daskalakis , G , Glentis , S , Sandall , J & Antsaklis , A 2008 , ' Women's perception of information and experiences of nuchal translucency screening in Greece ' , Fetal Diagnosis and Therapy , vol. 24 , no. 2 , pp. 86 - 91 . https://doi.org/10.1159/000142133

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/332c44b3-4c6a-4436-ac2e-719adf6efbf6

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/332c44b3-4c6a-4436-ac2e-719adf6efbf6
https://doi.org/10.1159/000142133

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15

Women's perception of information and experiences of nuchal translucency screening in Greece

المؤلفون: Gourounti, K. Lykeridou, K. Daskalakis, G. Glentis, S. Sandall, J. Antsaklis, A.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::d194bad3586e3027263b972e5ff852a4
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3131948

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16

Academic Journal

Women's perception of information and experiences of nuchal translucency screening in Greece.

المؤلفون: Gourounti K, Lykeridou K, Daskalakis G, Glentis S, Sandall J, Antsaklis A

المصدر: Fetal Diagnosis & Therapy; 2008, Vol. 24 Issue 2, p86-91, 6p

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