HuGE Literature Finder
Records 1-13
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Spectrum of Phenotype and Genotype of Congenital Isolated Hypogonadotropic Hypogonadism in Asian Indians.
Clinical endocrinology 2015 Dec . Nair Sandhya, Jadhav Swati, Lila Anurag, Jagtap Varsha, Bukan Amol, Pandit Reshma, Ekbote Alka, Dharmalingam Mala, Kumar Prasanna, Kalra Pramila, Gandhi Pramod, Walia Rama, Sankhe Shilpa, Raghavan Vijaya, Shivane Vyankatesh, Menon Padma, Bandgar Tushar, Shah Nali |
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Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.
Fertility and sterility 2014 Sep 102 (3): 838-846.e2. Beneduzzi Daiane, Trarbach Ericka B, Min Le, Jorge Alexander A L, Garmes Heraldo M, Renk Alessandra Covallero, Fichna Marta, Fichna Piotr, Arantes Karina A, Costa Elaine M F, Zhang Anna, Adeola Oluwaseun, Wen Junping, Carroll Rona S, Mendonça Berenice B, Kaiser Ursula B, Latronico Ana Claudia, Silveira Letícia F |
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Genetics of congenital hypogonadotropic hypogonadism in Denmark.
European journal of medical genetics 2014 Jul 57 (7): 345-8. Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Tane |
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When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
The Journal of clinical endocrinology and metabolism 2012 Sep 97 (9): E1798-807. Gianetti Elena, Hall Janet E, Au Margaret G, Kaiser Ursula B, Quinton Richard, Stewart Jane A, Metzger Daniel L, Pitteloud Nelly, Mericq Veronica, Merino Paulina M, Levitsky Lynne L, Izatt Louise, Lang-Muritano Mariarosaria, Fujimoto Victor Y, Dluhy Robert G, Chase Matthew L, Crowley William F, Plummer Lacey, Seminara Stephanie |
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Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism.
Journal of pediatric endocrinology & metabolism : JPEM 2012 25 (7-8): 659-68. Fathi Aws K, Hu Sicui, Fu Xi, Huang Shan, Liang Yan, Ning Qin, Luo Xiaopi |
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Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism.
Molecular and cellular endocrinology 2011 Jul 341 (1-2): 35-8. Laitinen Eeva-Maria, Tommiska Johanna, Virtanen Helena E, Oehlandt Heidi, Koivu Rosanna, Vaaralahti Kirsi, Toppari Jorma, Raivio Tane |
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The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.
Fertility and sterility 2011 Jun 95 (8): 2756-8. Vaaralahti Kirsi, Wehkalampi Karoliina, Tommiska Johanna, Laitinen Eeva-Maria, Dunkel Leo, Raivio Tane |
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A genetic basis for functional hypothalamic amenorrhea.
The New England journal of medicine 2011 Jan 364 (3): 215-25. Caronia Lisa M, Martin Cecilia, Welt Corrine K, Sykiotis Gerasimos P, Quinton Richard, Thambundit Apisadaporn, Avbelj Magdalena, Dhruvakumar Sadhana, Plummer Lacey, Hughes Virginia A, Seminara Stephanie B, Boepple Paul A, Sidis Yisrael, Crowley William F, Martin Kathryn A, Hall Janet E, Pitteloud Nel |
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Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.
Clinical endocrinology 2010 Mar 72 (3): 371-6. Trarbach Ericka Barbosa, Teles Milena Gurgel, Costa Elaine Maria Frade, Abreu Ana Paula, Garmes Heraldo Mendes, Guerra Gil, Baptista Maria Tereza Matias, de Castro Margaret, Mendonca Berenice Bilharinho, Latronico Ana Claud |
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Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
The Journal of clinical endocrinology and metabolism 2008 Oct 93 (10): 4113-8. Abreu Ana Paula, Trarbach Ericka Barbosa, de Castro Margaret, Frade Costa Elaine Maria, Versiani Beatriz, Matias Baptista Maria Tereza, Garmes Heraldo Mendes, Mendonca Berenice Bilharinho, Latronico Ana Claud |
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Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism.
European journal of endocrinology / European Federation of Endocrine Societies 2005 Dec 153 (6): 845-52. Lanfranco Fabio, Gromoll Jörg, von Eckardstein Sigrid, Herding Eva M, Nieschlag Eberhard, Simoni Manue |
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The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.
Fertility and sterility 2005 Oct 84 (4): 951-7. Bhagavath Balasubramanian, Ozata Metin, Ozdemir I C, Bolu Erol, Bick David P, Sherins Richard J, Layman Lawrence |
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Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing.
The Journal of clinical endocrinology and metabolism 2005 Feb 90 (2): 1091-9. Sedlmeyer Ines L, Pearce Celeste Leigh, Trueman Julie A, Butler Johannah L, Bersaglieri Todd, Read Andrew P, Clayton Peter E, Kolonel Laurence N, Henderson Brian E, Hirschhorn Joel N, Palmert Mark |
- Page last reviewed:Mar 16, 2019
- Page last updated:Aug 05, 2020
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