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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 9, 2024. (Total: 231298Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Kallmann Syndrome and FGF8[original query]
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
The Journal of clinical endocrinology and metabolism 2012 Feb .
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
European journal of endocrinology / European Federation of Endocrine Societies 2013 Dec 169 (6): 805-9.
Sarfati Julie, Fouveaut Corinne, Leroy Chrystel, Jeanpierre Marc, Hardelin Jean-Pierre, Dodé Catheri
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Birth defects research. Part A, Clinical and molecular teratology 2014 Oct 100 (10): 750-9.
Zeidler Claudia, Woelfle Joachim, Draaken Markus, Mughal Sadaf S, Große Greta, Hilger Alina C, Dworschak Gabriel C, Boemers Thomas M, Jenetzky Ekkehart, Zwink Nadine, Lacher Martin, Schmidt Dominik, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Märzheuser Stefanie, Holland-Cunz Stefan, Schäfer Mattias, Bartels Enrika, Keppler Kathleen, Palta Markus, Leonhardt Johannes, Kujath Christina, Rißmann Anke, Nöthen Markus M, Reutter Heiko, Ludwig Micha
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
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
Journal of medical genetics 2020 5 58 (1): 66-72.
Men Meichao, Wang Xinying, Wu Jiayu, Zeng Wang, Jiang Fang, Zheng Ruizhi, Li Jia-
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Clinical endocrinology 2022 9 97 (6): 804-813.
Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush
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