Neuroendocrine Phenotype Analysis in Five Patients with Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of GPR54

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Items 101–169 of 169

1. A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia
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2. Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism
   M. Moalla, F. Hadj Kacem, Abdullah Al Mutery, Mona Mahfood, Nabila Mejdoub-Rekik, Mohamed Abid, Mouna Mnif‐Feki, Hassen Hadj Kacem · 2019 · Journal of Assisted Reproduction and Genetics
3. Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction
   Letícia Ferreira Gontijo Silveira, Cíntia Tusset, Ana Cláudia Latronico · 2010 · Brain Research
4. Genetic Variations of theKISS1RGene in Korean Girls with Central Precocious Puberty
   Yeon Joung Oh, Young‐Jun Rhie, Hyo‐Kyoung Nam, Hye Ryun Kim, Kee‐Hyoung Lee · 2016 · Journal of Korean Medical Science
5. Absence of GPR54 and TACR3 Mutations in Sporadic Cases of Idiopathic Central Precocious Puberty
   Sofia Leka-Emiri, Eirini Louizou, Marios Kambouris, George Panagiotis Chrousos, Nicolás de Roux, Christina Kanaka‐Gantenbein · 2014 · Hormone Research in Paediatrics
6. Kisspeptin Induces Dynamic Chromatin Modifications to Control GnRH Gene Expression
   Horacio Javier Novaira, Momodou L. Sonko, Sally Radovick · 2015 · Molecular Neurobiology
7. Gonadotropin Hormones
   Ursula B. Kaiser · 2010 · Elsevier eBooks
8. Human genetics of GPR54
   Felecia E. Cerrato, Stephanie Beth Seminara · 2007 · Reviews in Endocrine and Metabolic Disorders
9. The role of kisspeptin/GPR54 in the reproductive system.
   Eleni Papaoiconomou, Pavlos Msaouel, Angeliki Makri, Evanthia Diamanti‐Kandarakis, Michael Koutsilieris · 2011 · PubMed
10. An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family
    Ahmad Alzahrani, Azzam Ahmad, Tariq Alhazmi, Lujin Ahmad · 2019 · Case Reports in Pediatrics
11. Kisspeptin and leptin in the regulation of fertility
    Yu. A. Pankov · 2015 · Molecular Biology
12. Neuroendocrine Mechanism of Puberty
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13. Molecular Biology of the Kisspeptin Receptor: Signaling, Function, and Mutations
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14. Novel DNA variation of GPR54 gene in familial central precocious puberty
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15. Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease
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16. Hypogonadisme hypogonadotrope congénital
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17. Кисспептин и лептин в регуляции фертильности
    Yu. A. Pankov · 2015 · Molecular Biology
18. The wonderful and masterful G protein-coupled receptor (GPCR): A focus on signaling mechanisms and the neuroendocrine control of fertility
    Andy Vi Babwah · 2020 · Molecular and Cellular Endocrinology
19. Role of Kisspeptine in Regulation of Reproductive Function
    Maria Igorevna Yarmolinskaya, Nigar F. Ganbarli, Айламазян Эдуард Карпович · 2016 · Journal of obstetrics and women s diseases
20. Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries
    Lina Hamad, Khalil Kreidieh, Mirna Bou Hamdan, Ghunwa A. Nakouzi, Soha Nabil Yazbek · 2020 · Journal of Immigrant and Minority Health
21. Aspectos clínicos e moleculares do hipogonadismo hipogonadotrófico isolado congênito
    Cíntia Tusset, Ericka Barbosa Trarbach, Letícia Ferreira Gontijo Silveira, Daiane Beneduzzi, Luciana Ribeiro Montenegro, Ana Cláudia Latronico · 2011 · Arquivos Brasileiros de Endocrinologia & Metabologia
22. Association between polymorphism of GPR54 gene and litter size in Small Tail Han sheep
    Q.Q. Tang, Mingxing Chu, Guiling Cao, Fang Li, Ran Di, Tao Feng, Dahui Huang, Ningxiao Li · 2011 · Livestock Science
23. Neuroendocrinology of Reproduction
    Christopher Rolland McCartney, John C. Marshall · 2013 · Elsevier eBooks
24. Restoring function to inactivating G protein‐coupled receptor variants in the hypothalamic–pituitary–gonadal axis 1
    Tarryn Radomsky, Ross C. Anderson, Robert Peter Millar, Claire L. Newton · 2024 · Journal of Neuroendocrinology
25. Neuroendocrinology of Reproduction
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26. Association analysis of polymorphisms of G protein-coupled receptor 54 gene exons with reproductive traits in Jiaxing Black sows
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27. Receptor Transduction Pathways Mediating Hormone Action
    Bassil M. Kublaoui, Michael A. Levine · 2021 · Elsevier eBooks
28. Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges
    Aws K. Fathi, Xiaoping Luo · 2013 · Journal of Pediatric Endocrinology and Metabolism · Retracted
29. Kallmann Syndrome and Other Causes of Hypothalamic Hypogonadism and Related Development Disorders
    Thang S. Han, Pierre Marc Bouloux · 2012 · Elsevier eBooks
30. Changes in the Responsiveness of the Hypothalamic-Pituitary-Gonadal Axis to Kisspeptin-10 Administration during Pubertal Transition in Boys
    Ghulam Nabi, Hamid Ullah, Suliman Khan, Fazal Wahab, Pengfei Duan, Rahim Ullah, Lunguang Yao, Muhammad Shahab · 2018 · International Journal of Endocrinology
31. Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans
    Justine Hugon‐Rodin, Keisuke Yoshii, Najiba Lahlou, Jennifer Flandrin, Anne Gompel, Nicolás de Roux · 2018 · The Journal of Clinical Endocrinology & Metabolism
32. Le couple kisspeptine/GPR54, un acteur majeur de la régulation neuroendocrine de la reproduction
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33. The genes associated with gonadotropin-releasing hormone-dependent precocious puberty
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34. Receptor transduction pathways mediating hormone action
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35. Genetic etiologies of central precocious puberty
    Hae Sang Lee · 2021 · Precision and Future Medicine
36. Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature
    Shashank Shekhar · 2012 · BMJ Case Reports
37. Chapter 2 Human Diseases Associated with GPR54 Mutations
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38. Whole-genome sequencing and genomic analysis of Norduz goat (Capra hircus)
    Mevlüt Arslan · 2023 · Mammalian Genome
39. Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
    Luciana Madeira da Silva, Lauren E. Vandepas, Suzy D.C. Bianco · 2011 · Journal of Visualized Experiments
40. Signal Transduction in Child Health: Closing the Gap Between Clinical and Basic ResearchA report on the third NICHe Conference, “New Inroads to Child Health—Child Health and Signal Transduction,” Varberg, Sweden, 21 to 23 May 2010
    Li F. Chan, Kerstin G. Albertsson-Wikland, Cecilia Camacho‐Hübner, Ze’ev Hochberg · 2010 · Science Signaling
41. Transcriptional activity of FIGLA, NEUROG2, and EGR1 transcription factors associated with polymorphisms in the proximal regulatory region of GPR54 gene in cattle
    Jin Hua Cheng, Wen-Juan Qin, Nyamsuren Balsai, Xuan-Jian Shang, Mengting Zhang, Hongquan Chen · 2020 · Animal Reproduction Science
42. Exploring the Role of Kisspeptin in Polycystic Ovary Syndrome and Its Associated Pregnancy Complications
    Shaohua Zhang, Xinmeng Sun, Haiyun Guan, Rongmin Wang, Wei Zhang, Hexia Xia · 2025 · Obesity Reviews
43. Homozygous mutation of KISS1 receptor (KISS1R) gene identified in a Chinese patient with congenital hypogonadotropic hypogonadism (CHH): case report and literature review
    Xiaoqian Chen, Tingting Du, Tingting Du, Luhong Yang, Yakun Li, Lifang Feng, Juan Luo, Hui Yao, Xiaohong Chen · 2024 · Journal of Pediatric Endocrinology and Metabolism
44. Disorders of Puberty
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45. Analysis of KAL1, FGFR1, GPR54, and NELF copy number variations by multiplex ligation dependent probe amplification in male patients with idiopathic hypogonadotropic hypogonadism
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46. Genetics of Female Infertility in Humans
    Bala Bhagavath, Lawrence Clarke Layman · 2013 · Elsevier eBooks
47. Congenital Hypogonadotropic Hypogonadism in Males: Clinical Features and Pathophysiology
    Ravikumar Balasubramanian, William F. Crowley · 2017 · Contemporary Endocrinology
48. Gonadotrophin Hormones
    Ana Paula Abreu, Ursula B. Kaiser · 2022 · Elsevier eBooks
49. The Role of Kisspeptin and KNDy Cells in the Reproductive Neuroendocrine System
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50. KISS-1/GPR54genes and their role in reproduction
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51. Polymorphism in KISS1 receptor gene was correlated with idiopathic male infertility in Guilan province, Iran
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53. Kallmann Syndrome : Clinical and molecular genetic features in Finland
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54. Interactions of GPR54 and GPR147 receptors with RF-amide ligands
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66. Novel KISS1 Gene Mutation Leading to Male Hypogonadotropic Hypogonadism
    Leonie Wittner, Santosh Mahindrakar, Ali Yasin, Sandra Nicole Scheel, Wolfgang Hoeppner, Joachim Feldkamp · 2026 · Experimental and Clinical Endocrinology & Diabetes
67. Contribution à la caractérisation de nouveaux gènes impliqués dans les hypogonadismes hypogonadotropes : caractérisation des mécanismes moléculaires et cellulaires
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