Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement-Reference-Cited by-同舟云学术

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Published:2012-11-11 Issue:12 Volume:44 Page:1375-1381
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Sun Yu,Bak Beata,Schoenmakers Nadia,van Trotsenburg A S Paul,Oostdijk Wilma,Voshol Peter,Cambridge Emma,White Jacqueline K,le Tissier Paul,Gharavy S Neda Mousavy,Martinez-Barbera Juan P,Stokvis-Brantsma Wilhelmina H,Vulsma Thomas,Kempers Marlies J,Persani Luca,Campi Irene,Bonomi Marco,Beck-Peccoz Paolo,Zhu Hongdong,Davis Timothy M E,Hokken-Koelega Anita C S,Del Blanco Daria Gorbenko,Rangasami Jayanti J,Ruivenkamp Claudia A L,Laros Jeroen F J,Kriek Marjolein,Kant Sarina G,Bosch Cathy A J,Biermasz Nienke R,Appelman-Dijkstra Natasha M,Corssmit Eleonora P,Hovens Guido C J,Pereira Alberto M,den Dunnen Johan T,Wade Michael G,Breuning Martijn H,Hennekam Raoul C,Chatterjee Krishna,Dattani Mehul T,Wit Jan M,Bernard Daniel J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2453.pdf

Reference42 articles.

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2. Mehta, A. et al. Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children. J. Clin. Endocrinol. Metab. 88, 5696–5703 (2003).

3. van Tijn, D.A., de Vijlder, J.J. & Vulsma, T. Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants. J. Clin. Endocrinol. Metab. 93, 410–419 (2008).

4. Faglia, G. et al. Plasma thyrotropin response to thyrotropin-releasing hormone in patients with pituitary and hypothalamic disorders. J. Clin. Endocrinol. Metab. 37, 595–601 (1973).

5. Crofton, P.M., Tepper, L.A. & Kelnar, C.J. An evaluation of the thyrotrophin-releasing hormone stimulation test in paediatric clinical practice. Horm. Res. 69, 53–59 (2008).

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