المؤلفون: Małgorzata Kałużna, Katarzyna Katulska, Katarzyna Ziemnicka, Pola Kompf, Bartłomiej Budny, Paweł Komarnicki, Michał Rabijewski, Jerzy Moczko, Jarosław Kałużny, Marek Ruchała

المصدر: Endocrine Connections, Vol 14, Iss 2 (2025)

مصطلحات موضوعية: isolated hypogonadotropic hypogonadism (ihh), kallmann syndrome (ks), olfactory bulbs, olfactory sulcus, pituitary hypoplasia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/14/2/EC-24-0437.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/dd21177918f84cf7aafb40cbb193ab9d

المؤلفون: Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Kosma Szutkowski, Adam Piotrowski, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała, Katarzyna Ziemnicka

المصدر: Frontiers in Endocrinology, Vol 15 (2024)

مصطلحات موضوعية: isolated hypogonadotropic hypogonadism, oligogenicity, next-generation sequencing (NGS), pathogenic/likely pathogenic (P/LP), normosmic, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1396805/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/ea0d1d6aca6e4ca18d762c12b2f79e77

المؤلفون: Bijay K. Sahoo, Padala Ravi Kumar, Sudhi Ranjan Pattanaik, Deepak Kumar Dash, Debasish Patro, Radhakrishna Telagareddy

المصدر: Indian Journal of Endocrinology and Metabolism, Vol 28, Iss 2, Pp 153-159 (2023)

مصطلحات موضوعية: constitutional delay in growth and puberty, anti-mullerian hormone, hcg stimulation test, inhibin b, isolated hypogonadotropic hypogonadism, triptorelin stimulation test, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: https://journals.lww.com/10.4103/ijem.ijem_146_23; https://doaj.org/toc/2230-8210; https://doaj.org/toc/2230-9500

URL الوصول: https://doaj.org/article/3a29b21a12f743f9bacc8e432bd0c97d

المؤلفون: Wanxue Xu, Rong li, Jie Qiao

المصدر: BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Isolated Hypogonadotropic Hypogonadism, Infertility, FOI, Clinical pregnancy, Ovarian response, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2393

URL الوصول: https://doaj.org/article/6c91835b3a084875bd760bb4c86c595e

المؤلفون: Cangiano B., Goggi G., Federici S., Bresesti C., Cotellessa L., Guizzardi F., Vezzoli V., Duminuco P., Persani L., Bonomi M.

المساهمون: B. Cangiano, G. Goggi, S. Federici, C. Bresesti, L. Cotellessa, F. Guizzardi, V. Vezzoli, P. Duminuco, L. Persani, M. Bonomi

مصطلحات موضوعية: Androgenization, Genetic, GnRH deficiency, Isolated hypogonadotropic hypogonadism, Puberty, Settore MED/13 - Endocrinologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/33738751; info:eu-repo/semantics/altIdentifier/wos/WOS:000630237800001; volume:44; issue:11; firstpage:2445; lastpage:2454; numberofpages:10; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; http://hdl.handle.net/2434/826617; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102639297

الاتاحة: http://hdl.handle.net/2434/826617
https://doi.org/10.1007/s40618-021-01556-x

المؤلفون: Małgorzata Kałużna, Pola Kompf, Michał Rabijewski, Jerzy Moczko, Jarosław Kałużny, Katarzyna Ziemnicka, Marek Ruchała

المصدر: Journal of Clinical Medicine; Volume 10; Issue 12; Pages: 2622

مصطلحات موضوعية: isolated hypogonadotropic hypogonadism (IHH), Kallmann syndrome (KS), health-related quality of life (HRQoL)

وصف الملف: application/pdf

Relation: Mental Health; https://dx.doi.org/10.3390/jcm10122622

الاتاحة: https://doi.org/10.3390/jcm10122622

المؤلفون: Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Jarosław Kałużny, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała, Katarzyna Ziemnicka

المصدر: Genes; Volume 12; Issue 6; Pages: 868

مصطلحات موضوعية: Kallmann syndrome (KS), isolated hypogonadotropic hypogonadism (IHH), next-generation sequencing (NGS), combined pituitary hormone deficiency (CPHD), GnRH neuron, anosmia, hyposmia

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12060868

الاتاحة: https://doi.org/10.3390/genes12060868

المؤلفون: Yin-Wei Chen, Yong-Hua Niu, Hao Xu, Dao-Qi Wang, Hong-Yang Jiang, Gaurab Pokhrel, Tao Wang, Shao-Gang Wang, Ji-Hong Liu

المصدر: Asian Journal of Andrology, Vol 21, Iss 4, Pp 413-418 (2019)

مصطلحات موضوعية: human chorionic gonadotropin, isolated hypogonadotropic hypogonadism, spermatogenesis, testosterone undecanoate, virilization, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.ajandrology.com/article.asp?issn=1008-682X;year=2019;volume=21;issue=4;spage=413;epage=418;aulast=Chen; https://doaj.org/toc/1008-682X; https://doaj.org/toc/1745-7262

URL الوصول: https://doaj.org/article/b1ff036c778f442bbcc3dfd3ac5b4c1f

المؤلفون: Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Kosma Szutkowski, Adam Piotrowski, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała, Katarzyna Ziemnicka

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, isolated hypogonadotropic hypogonadism, oligogenicity, next-generation sequencing (NGS), pathogenic/likely pathogenic (P/LP), normosmic

Relation: https://figshare.com/articles/dataset/DataSheet_1_Variety_of_genetic_defects_in_GnRH_and_hypothalamic_pituitary_signaling_and_development_in_normosmic_patients_with_IHH_zip/26133310

الاتاحة: https://doi.org/10.3389/fendo.2024.1396805.s001
https://figshare.com/articles/dataset/DataSheet_1_Variety_of_genetic_defects_in_GnRH_and_hypothalamic_pituitary_signaling_and_development_in_normosmic_patients_with_IHH_zip/26133310

المؤلفون: Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Kosma Szutkowski, Adam Piotrowski, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała, Katarzyna Ziemnicka

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, isolated hypogonadotropic hypogonadism, oligogenicity, next-generation sequencing (NGS), pathogenic/likely pathogenic (P/LP), normosmic

Relation: https://figshare.com/articles/dataset/Table_1_Variety_of_genetic_defects_in_GnRH_and_hypothalamic_pituitary_signaling_and_development_in_normosmic_patients_with_IHH_xlsx/26133313

الاتاحة: https://doi.org/10.3389/fendo.2024.1396805.s002
https://figshare.com/articles/dataset/Table_1_Variety_of_genetic_defects_in_GnRH_and_hypothalamic_pituitary_signaling_and_development_in_normosmic_patients_with_IHH_xlsx/26133313

المؤلفون: Rita Indirli, Biagio Cangiano, Eriselda Profka, Giovanna Mantovani, Luca Persani, Maura Arosio, Marco Bonomi, Emanuele Ferrante

المصدر: Frontiers in Endocrinology, Vol 10 (2019)

مصطلحات موضوعية: Kallmann syndrome, anosmia, isolated hypogonadotropic hypogonadism, central hypogonadism, SPRY4, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2019.00781/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/a57d53f4f16b4b29b4904e5eb2cf345a

المؤلفون: Yan-Ling Liu, Man-Na Zhang, Guo-Yu Tong, Shou-Yue Sun, Yan-Hua Zhu, Ying Cao, Jie Zhang, Hong Huang, Ben Niu, Hong Li, Qing-Hua Guo, Yan Gao, Da-Long Zhu, Xiao-Ying Li, on behalf of Hypogonadotropic Hypogonadism Intervention Study (HHIS) Group

المصدر: Asian Journal of Andrology, Vol 19, Iss 3, Pp 280-285 (2017)

مصطلحات موضوعية: gonadotropin, isolated hypogonadotropic hypogonadism, masculinization, spermatogenesis, zinc supplementation, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.ajandrology.com/article.asp?issn=1008-682X;year=2017;volume=19;issue=3;spage=280;epage=285;aulast=Liu; https://doaj.org/toc/1008-682X; https://doaj.org/toc/1745-7262

URL الوصول: https://doaj.org/article/203689f387af41dd8281377c4dd03b43

المؤلفون: Luca Giovanelli, Richard Quinton

المساهمون: L. Giovanelli, R. Quinton

مصطلحات موضوعية: ANOS1, isolated hypogonadotropic hypogonadism, LH, genotype, phenotype, puberty, Settore MED/13 - Endocrinologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/36520986; info:eu-repo/semantics/altIdentifier/wos/WOS:000904629500001; volume:198; issue:4; firstpage:e50; lastpage:e51; numberofpages:2; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; https://hdl.handle.net/2434/949992; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150000990

الاتاحة: https://hdl.handle.net/2434/949992
https://doi.org/10.1210/clinem/dgac727

المؤلفون: DERE, Osman, KARAASLAN, Hüseyin

المصدر: Volume: 13, Issue: 5 729-734 ; 2667-7180 ; Journal of Contemporary Medicine

مصطلحات موضوعية: isolated hypogonadotropic hypogonadism, testicular stiffness, male infertility, Shear Wave Elastography, izole hipogonadotropik hipogonadizm, elastografi, testiküler sertlik, erkek infertilitesi, Radiology and Organ Imaging, Radyoloji ve Organ Görüntüleme, Diagnostic Radiography, Tanı Radyografisi

وصف الملف: application/pdf

Relation: https://dergipark.org.tr/tr/download/article-file/3276317; https://dergipark.org.tr/tr/pub/jcm/issue/80164/1330250

الاتاحة: https://dergipark.org.tr/tr/pub/jcm/issue/80164/1330250
https://doi.org/10.16899/jcm.1330250

المؤلفون: Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla Gabriella, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzoccaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia Maria, Ferlin, Alberto, Mazzanti, Laura, Zatelli, Maria Chiara, Cannavò, Salvatore, Isidori, Andrea M, Pincelli, Angela I, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda, Maria Laura, Gaudino, Rossella, Salerno, Mariacarolina, Pregnolato, Francesca, Maghnie, Mohammad, Maggi, Mario, Persani, Luca

المساهمون: Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla Gabriella, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzoccaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia Maria, Ferlin, Alberto, Mazzanti, Laura, Zatelli, Maria Chiara, Cannavò, Salvatore, Isidori, Andrea M, Pincelli, Angela I, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda, Maria Laura, Gaudino, Rossella, Salerno, Mariacarolina, Pregnolato, Francesca, Maghnie, Mohammad, Maggi, Mario, Persani, Luca

مصطلحات موضوعية: isolated Hypogonadotropic hypogonadism, kallmann syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/28882981; info:eu-repo/semantics/altIdentifier/wos/WOS:000419119500008; volume:178; issue:1; firstpage:23; lastpage:32; numberofpages:10; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; http://hdl.handle.net/11562/982422; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040464673

الاتاحة: http://hdl.handle.net/11562/982422
https://doi.org/10.1530/EJE-17-0065

المؤلفون: Natalia A. Zubkova, Natalia Yu. Kalinchenko, A. V. Panova, Anatoly Tiulpakov, N. A. Makretskaya, Evgeny Vasilyev, E. B. Frolova, M. V. Gerasimova, T. V. Pogoda, Vasiliy Petrov, A. V. Poliakov, Anna Kolodkina

المصدر: Problems of Endocrinology. 67:62-67

مصطلحات موضوعية: 0301 basic medicine, Genetics, Isolated hypogonadotropic hypogonadism, Infertility, Endocrinology, Diabetes and Metabolism, GNRHR, Anosmia, Biology, Gene mutation, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hypogonadotropic hypogonadism, 030220 oncology & carcinogenesis, medicine, Congenital Hypogonadotropic Hypogonadism, medicine.symptom, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5aff095da1f308ec15e27fe9b13a3688
https://doi.org/10.14341/probl12746

المؤلفون: Tusset, Cintia, Noel, Sekoni D., Trarbach, Ericka B., Silveira, Letícia F. G., Jorge, Alexander A. L., Brito, Vinicius N., Cukier, Priscila, Seminara, Stephanie B., Mendonça, Berenice B. de, Kaiser, Ursula B., Latronico, Ana Claudia

المصدر: Arquivos Brasileiros de Endocrinologia & Metabologia. December 2012 56(9)

مصطلحات موضوعية: Neurokinin B, neurokinin B receptor, central precocious puberty, normosmic isolated hypogonadotropic hypogonadism, constitutional delay of growth and puberty

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000900008

المؤلفون: Richard Quinton, Brooke Meader, Katie L. Lewis, Janet E. Hall, Corrine K. Welt, Joan E. Bailey-Wilson, Leslie G. Biesecker, Alessandro Albano, Christopher A. Lavender, Natalie Shaw, Angela Delaney, Verónica Mericq, Paulina M. Merino, Stephanie B. Seminara, Adam B. Burkholder, Lacey Plummer, Kathryn A. Martin

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Adult, 0301 basic medicine, Isolated hypogonadotropic hypogonadism, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Mutation, Missense, 030209 endocrinology & metabolism, Context (language use), Biochemistry, Gonadotropin-Releasing Hormone, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Gene Frequency, Hypogonadotropic hypogonadism, Internal medicine, Exome Sequencing, Humans, Medicine, Genetic Predisposition to Disease, Allele, Online Only Articles, Child, Amenorrhea, Gene, Genetic Association Studies, Exome sequencing, Aged, Sequence (medicine), business.industry, Hypogonadism, Biochemistry (medical), Kallmann Syndrome, Middle Aged, Heritability, medicine.disease, 030104 developmental biology, Case-Control Studies, Female, business, Hypothalamic Diseases, Metabolic Networks and Pathways

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4abe6f45a8b6d00cda1d49468209b2d
https://doi.org/10.1210/clinem/dgaa609

المؤلفون: Stephanie B. Seminara, Greti Aguilera, Tim Cheetham, Richard Quinton, Ellen W. Leschek, Angela Delaney, Katherine W. Roche, Sehoon Won, Melissa Jennings, Kevin M. Barnes, Philip Whalen, Shanna Yue, Matthew G. Boden, William F. Crowley, Adrian G. Temnycky, Sally Radovick, Jeffrey Baron, Julian C. Lui, Youn Hee Jee, Jack A. Yanovski

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Delayed puberty, Isolated hypogonadotropic hypogonadism, puberty, medicine.medical_specialty, PSD-93, 030105 genetics & heredity, Biology, NMDA receptors, Article, Gonadotropin-Releasing Hormone, 03 medical and health sciences, FYN, Hypogonadotropic hypogonadism, Internal medicine, Exome Sequencing, medicine, Humans, Missense mutation, Genetics (clinical), Exome sequencing, Hypogonadism, Tumor Suppressor Proteins, Proteins, hypogonadotropic hypogonadism, medicine.disease, DLG2, 030104 developmental biology, Endocrinology, nervous system, NMDA receptor, medicine.symptom, Guanylate Kinases, Signal Transduction, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0d5e9528a7018f59e3c5153d1f89318
https://doi.org/10.1038/s41436-020-0803-8

المؤلفون: Young Ah Kim, Jieun Lee, Jaewon Choe, Jae Hyun Kim

المصدر: Annals of Pediatric Endocrinology & Metabolism

مصطلحات موضوعية: Isolated hypogonadotropic hypogonadism, Delayed puberty, medicine.medical_specialty, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Dizygotic twin, 030209 endocrinology & metabolism, Case Report, Short stature, 03 medical and health sciences, 0302 clinical medicine, Hypogonadotropic hypogonadism, 030225 pediatrics, Internal medicine, medicine, Idiopathic hypogonadotropic hypogonadism, business.industry, Genetic heterogeneity, Puberty, Genetic disorder, medicine.disease, Gonadotropin-releasing hormone, body regions, Endocrinology, Pediatrics, Perinatology and Child Health, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c262ca05d5b4999051d439b48f30396
http://europepmc.org/articles/PMC7538301