المؤلفون: Rohit Barnabas, Swati Jadhav, Anurag Ranjan Lila, Sirisha Kusuma Boddu, Saba Samad Memon, Sneha Arya, Samiksha Chandrashekhar Hegishte, Manjiri Karlekar, Virendra A Patil, Vijaya Sarathi, Nalini S Shah, Tushar Bandgar

المصدر: Endocrine Connections, Vol 13, Iss 11, Pp 1-11 (2024)

مصطلحات موضوعية: hypogonadism, leydig cell hypoplasia, lhcgr, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/13/11/EC-24-0246.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/0c84a8f16afb46e9a6732b9c23a31184

المؤلفون: Samaneh Sharif, Saba Vakili, Moein Mobini, Malihe Lotfi, Fatemeh Zarei, Mohammad Reza Abbaszadegan, Rahim Vakili

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Leydig cell hypoplasia, Disorder of sexual differentiation, LHCGR gene, Novel variants, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/e42df8a5523b4c0eb7e8202a61d0a88a

المؤلفون: Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer

المصدر: Urology Case Reports, Vol 41, Iss , Pp 101971- (2022)

مصطلحات موضوعية: Disorder/difference of sex development (DSD), Leydig cell hypoplasia, Pseudohermaphroditism, Prenatal diagnosis, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214442021004113; https://doaj.org/toc/2214-4420

URL الوصول: https://doaj.org/article/2f603608bc7b4c14b47774d1e24db0fd

المؤلفون: Mei Yan, Julaiti Dilihuma, Yanfei Luo, Baoerhan Reyilanmu, Yiping Shen, Maimaiti Mireguli

المصدر: JCRPE, Vol 11, Iss 2, Pp 211-217 (2019)

مصطلحات موضوعية: Disorder of sexual differentiation, Leydig cell hypoplasia, LHCGR gene, novel variants, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.jcrpe.org/archives/archive-detail/article-preview/novel-compound-heterozygous-variants-in-the-ilhcgr/19934; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/9346a2d0064f40ec86eaec1671f21968

المؤلفون: Cayir, Atilla, Karakaya, Amine Aktar, Unal, Edip, Bestas, Asli, Solmaz, Asli Ece, Haspolat, Yusuf Kenan

مصطلحات موضوعية: LHCGR, Leydig cell hypoplasia, Missense Mutation, Primary amenorrhea, Luteinizing-Hormone Receptor, Empty Follicle Syndrome, Leydig-Cell Hypoplasia, Inactivating Mutations, 46,Xy Disorders, Patient

Relation: European Journal Of Obstetrics & Gynecology And Reproductive Biology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/76515; https://doi.org/10.1016/j.ejogrb.2022.03.033; 272; 193; 197

الاتاحة: https://hdl.handle.net/11454/76515
https://doi.org/10.1016/j.ejogrb.2022.03.033

المؤلفون: Amine, Aktar Karakaya, Atilla, Çayır, Edip, Unal, Aslı, Beştaş, Aslı, Ece Solmaz, Yusuf, Kenan Haspolat

مصطلحات موضوعية: Male, Leydig-Cell Hypoplasia, Disorder of Sex Development, 46,XY, Patient, Missense Mutation, Empty Follicle Syndrome, Luteinizing-Hormone Receptor, Obstetrics and Gynecology, Receptors, LH, 46,Xy Disorders, Reproductive Medicine, Inactivating Mutations, Mutation, Testis, Primary amenorrhea, LHCGR, Humans, Female, Leydig cell hypoplasia, Amenorrhea, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79322ab170a8b3e670401afead8aa2e4
https://hdl.handle.net/11454/76515

المؤلفون: Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer

المصدر: Urology Case Reports
Urology Case Reports, Vol 41, Iss, Pp 101971-(2022)

مصطلحات موضوعية: endocrine system, DSD, disorder/difference in sex development, Disorder/difference of sex development (DSD), Urology, Prenatal diagnosis, LHCGR, luteinizing hormone/chorionic gonadotropin receptor, LH, luteinizing hormone, Leydig cell hypoplasia, RC870-923, Pseudohermaphroditism, Pediatrics, LCH, Leydig cell hypoplasia, Diseases of the genitourinary system. Urology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caaa4b604e5c830a3aea0834dc9629a1
http://europepmc.org/articles/PMC8671494

المؤلفون: Mona K. Mekkawy, Inas Mazen, Mona L. Essawi, Heba Amin Hassan

المصدر: Hormones. 19:573-579

مصطلحات موضوعية: Adult, Male, endocrine system, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Consanguinity, 030204 cardiovascular system & hematology, Compound heterozygosity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Testis, medicine, Humans, Gene, Genetics, Disorder of Sex Development, 46,XY, business.industry, General Medicine, Receptors, LH, medicine.disease, Pedigree, Hormone receptor, Leydig cell hypoplasia, Female, Gonadotropin, business, Luteinizing hormone, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3198fee03acbe20c1708fb188e12de
https://doi.org/10.1007/s42000-020-00226-6

المؤلفون: Raif Yıldız, Fatma Seyrek, Fatma Özgüç Çömlek, Filiz Tutunculer

المصدر: Oxford Medical Case Reports

مصطلحات موضوعية: endocrine system, omcrep/700, Physiology, Case Report, 030204 cardiovascular system & hematology, medicine.disease_cause, Microbiology, 03 medical and health sciences, Leydig cell, 0302 clinical medicine, medicine, 030212 general & internal medicine, Early childhood, LHCGR gene, hypoplasia, Mutation, sex development, business.industry, Aplasia, medicine.disease, Hypoplasia, Infectious Diseases, medicine.anatomical_structure, omcrep/1700, Leydig cell hypoplasia, Parasitology, Differential diagnosis, AcademicSubjects/MED00010, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fa9bc6f7da640ccdb600d3a20eb8a5
https://doi.org/10.1093/omcr/omab015

المؤلفون: Sharmin Jahan, Muhammad Abul Hasanat, Fakhrul Alam, Tania Tofail, Mohammad Fariduddin

المصدر: AACE Clinical Case Reports, Vol 6, Iss 3, Pp e117-e122 (2020)
AACE Clin Case Rep

مصطلحات موضوعية: Pathology, medicine.medical_specialty, endocrine system, Autosome, Leydig cell, medicine.drug_class, business.industry, Case Reports, General Medicine, medicine.disease, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, medicine.anatomical_structure, Estrogen, Agenesis, medicine, Leydig cell hypoplasia, Disorders of sex development, Luteinizing hormone, business, Testosterone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a00c10197aa602fc12c5a9848530f16
http://www.sciencedirect.com/science/article/pii/S2376060520300134

المؤلفون: Unal, Edip, Aktar Karakaya, Amine, Bestas, Asli, Tas, Funda, Onay, Huseyin, Haspolat, Yusuf Kenan

مصطلحات موضوعية: Leydig cell hypoplasia, Primary amenorrhea, LHCGRmutation

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Gynecological Endocrinology; https://doi.org/10.1080/09513590.2020.1789859; https://hdl.handle.net/11454/62164

الاتاحة: https://hdl.handle.net/11454/62164
https://doi.org/10.1080/09513590.2020.1789859

المؤلفون: Yu Ding, Niu Li, Jian Wang, Juan Li, Xiumin Wang, Guoqiang Li, Yulin Chen, Yufei Xu, Xuyun Hu, Yiping Shen

المصدر: Journal of Pediatric Endocrinology and Metabolism. 31:239-245

مصطلحات موضوعية: Genetics, Sanger sequencing, 030219 obstetrics & reproductive medicine, Splice site mutation, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, medicine.disease, Compound heterozygosity, Genetic analysis, DNA sequencing, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Pediatrics, Perinatology and Child Health, symbols, Leydig cell hypoplasia, medicine, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0781bee95f6fdd7dd30e97c5029da6c2
https://doi.org/10.1515/jpem-2016-0445

المؤلفون: Edip Unal, Amine Aktar Karakaya, Yusuf Kenan Haspolat, Hüseyin Onay, Funda Feryal Taş, Aslı Beştaş

المساهمون: Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, Karakaya, Amine Aktar, Ünal, Edip, Beştaş, Aslı, Taş, Funda, Haspolat, Yusuf Kenan, Ege Üniversitesi

مصطلحات موضوعية: medicine.medical_specialty, endocrine system, Endocrinology, Diabetes and Metabolism, Female Phenotype, Obstetrics and Gynecology, LHCGRmutation, Disease, Biology, musculoskeletal system, medicine.disease, Endocrinology, Internal medicine, Primary amenorrhea, medicine, Leydig cell hypoplasia, LHCGR mutation, Gene, hormones, hormone substitutes, and hormone antagonists

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd2bc4a9b429cba1aed235290db5a9af
https://hdl.handle.net/11468/8340

المصدر: Textbook of Endocrine Physiology, 2011.

الاتاحة: https://doi.org/10.1093/oso/9780199744121.003.0007

المؤلفون: Bing Han, Jie Qiao

مصطلحات موضوعية: 0301 basic medicine, endocrine system, medicine.medical_specialty, Mutation, 030219 obstetrics & reproductive medicine, Biology, Familial male-limited precocious puberty, medicine.disease_cause, medicine.disease, biology.organism_classification, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Leydig cell hypoplasia, Precocious puberty, Signal transduction, Luteinizing hormone, Zebrafish

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2d56251e1773a1a8fe6f5c0c225ec40f
https://doi.org/10.1016/bs.pmbts.2018.09.007

المؤلفون: Deborah L. Segaloff, George P. Chrousos, Q. R. Fan, Amalia Sertedaki, L. G. Silveira, Evangelia Charmandari, Ana Claudia Latronico, Meilin Zhang, Rongbin Guan

المصدر: Molecular Endocrinology. 30:62-76

مصطلحات موضوعية: Male, 0301 basic medicine, Agonist, Protein Folding, medicine.medical_specialty, Adolescent, Intrinsic activity, medicine.drug_class, Mutant, Biology, medicine.disease_cause, 03 medical and health sciences, Endocrinology, Internal medicine, medicine, Humans, Receptor, Molecular Biology, Puberty, Delayed, Mutation, Leydig Cells, General Medicine, Receptors, LH, medicine.disease, Cell biology, 030104 developmental biology, Ectodomain, Leydig cell hypoplasia, Female, Signal transduction, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34cf8d9d5c102cb9b2b50a2394e49c5e
https://doi.org/10.1210/me.2015-1205

المؤلفون: Paolo Duminuco, Ralf Schülein, Alessandra Vottero, Roberta Minari, Valeria Vezzoli, Gunnar Kleinau, Luca Persani, Sergio Bernasconi, Marco Bonomi, Ivan Bassi

المصدر: Human Molecular Genetics. 24:6003-6012

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, DNA Mutational Analysis, Protein Sorting Signals, Biology, Compound heterozygosity, Hypergonadotropic hypogonadism, Internal medicine, Cryptorchidism, Testis, Genetics, medicine, Animals, Humans, Child, Receptor, Molecular Biology, Genetics (clinical), Testosterone, Hypospadias, Disorder of Sex Development, 46,XY, luteinizing hormone/choriogonadotropin receptor, General Medicine, Micropenis, Receptors, LH, medicine.disease, Endocrinology, Mutation, Leydig cell hypoplasia, Genital Diseases, Male, Luteinizing hormone, Penis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e310f9b9576bf2a080349cf34a47ec
https://doi.org/10.1093/hmg/ddv313

المؤلفون: Sorahia Domenice, Berenice B. Mendonca, Elaine Maria Frade Costa, Alicia Belgorosky, M A Rivarola

المصدر: Best Practice & Research Clinical Endocrinology & Metabolism. 24:243-262

مصطلحات موضوعية: Adult, Male, endocrine system, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, TESTOSTERONE-SYNTHESIS DEFECTS, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Disorders of Sex Development, LEYDIG CELL HYPOPLASIA, Medicina Clínica, Biology, urologic and male genital diseases, chemistry.chemical_compound, 5Α-REDUCTASE TYPE 2 DEFICIENCY, Endocrinology, Mineralocorticoids, Endocrinología y Metabolismo, Internal medicine, medicine, Humans, Testosterone, Disorders of sex development, Child, Glucocorticoids, Gonadal Dysgenesis, 46,XY, Adrenal Hyperplasia, Congenital, urogenital system, Cholesterol, Mesenchymal stem cell, Infant, Newborn, Infant, Leydig Cells, Cell Differentiation, Receptors, LH, Androgen, medicine.disease, LHCGR DEFECTS, Smith-Lemli-Opitz Syndrome, chemistry, Smith–Lemli–Opitz syndrome, Dihydrotestosterone, Androgens, Leydig cell hypoplasia, Female, SMITH-LEMLI-OPITZ SYNDROME, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acfef5e659a4a245cada604edd6508c6
https://doi.org/10.1016/j.beem.2009.11.003

المؤلفون: Mustafa Emre Bakircioglu, Necati Findikli, M. Bahceci, Meral Gultomruk, B. Erzik, Pinar Tulay

المصدر: Journal of Assisted Reproduction and Genetics. 31:817-821

مصطلحات موضوعية: Adult, Male, endocrine system, medicine.medical_specialty, Sperm Retrieval, medicine.drug_class, Fertilization in Vitro, Biology, Chorionic Gonadotropin, Article, Human chorionic gonadotropin, Internal medicine, Testis, Genetics, medicine, Humans, Testosterone, Genetics (clinical), Disorder of Sex Development, 46,XY, Leydig cell, luteinizing hormone/choriogonadotropin receptor, Obstetrics and Gynecology, General Medicine, Micropenis, Receptors, LH, medicine.disease, Androgen, Spermatozoa, Semen Analysis, Endocrinology, medicine.anatomical_structure, Reproductive Medicine, Mutation, Leydig cell hypoplasia, Male sex differentiation, Luteinizing hormone, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::265e9f7edd42a7a7adb7e5a91430842e
https://doi.org/10.1007/s10815-014-0241-0

المؤلفون: Shuang-Xia Zhao, Jia-Lun Chen, Bing Han, Ming-Dao Chen, Jinfeng Tang, Kaixiang Cheng, Wan-Ling Wu, Jun Liang, Ying-Li Lu, Xia Chen, Jie Qiao, Huai-Dong Song, Bing-Li Liu, Fu-Guo Chen, Ying Ru, Yi-Xin Wu

المصدر: Human Mutation. 30:E855-E865

مصطلحات موضوعية: Models, Molecular, Heterozygote, endocrine system, Protein Conformation, Mutant, Disorders of Sex Development, Mutation, Missense, Biology, medicine.disease_cause, Exon, Asian People, Genetics, medicine, Humans, Missense mutation, Family, RNA, Messenger, Child, Genetics (clinical), Mutation, Splice site mutation, Base Sequence, luteinizing hormone/choriogonadotropin receptor, Receptors, LH, medicine.disease, Molecular biology, RNA splicing, Leydig cell hypoplasia, Female, RNA Splice Sites

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305f1089387a6c44f603dbcddf5fc3fa
https://doi.org/10.1002/humu.21072