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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 14, 2024. (Total: 231451Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Kallmann Syndrome and GNRHR[original query]
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
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
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
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
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series.
Journal of reproduction & infertility 2021 3 22 (1): 38-46.
Danda Vijay Sheker Reddy, Paidipelly Srinivas Rao, Verepula Madhavi, Lodha Piyush, Thaduri Krishna Reddy, Konda Chaitanya, Ruhi Aps
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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