Literature DB >> 23665514

The unusual adequate development of a child with severe central hypothyroidsm negative at neonatal thyrotropin screening.

D V Libri1, A Trettene, M Bonomi, P Beck-Peccoz, L Persani, A Salvatoni.   

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Year:  2013        PMID： 23665514     DOI： 10.3275/8963

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  5 in total

1.  A family with complete resistance to thyrotropin-releasing hormone.

Authors:  Marco Bonomi; Marta Busnelli; Paolo Beck-Peccoz; Daniela Costanzo; Francesco Antonica; Claudia Dolci; Alba Pilotta; Fabio Buzi; Luca Persani
Journal:  N Engl J Med       Date:  2009-02-12       Impact factor: 91.245

2.  Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

Authors:  M Bonomi; M C Proverbio; G Weber; G Chiumello; P Beck-Peccoz; L Persani
Journal:  J Clin Endocrinol Metab       Date:  2001-04       Impact factor: 5.958

3.  Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

Authors:  Guntram Borck; A Kemal Topaloglu; Eckhard Korsch; Ursula Martiné; Gabriele Wildhardt; Neslihan Onenli-Mungan; Bilgin Yuksel; Ulrich Aumann; Gerhard Koch; Guler Ozer; Roland Pfäffle; Neal H Scherberg; Samuel Refetoff; Joachim Pohlenz
Journal:  J Clin Endocrinol Metab       Date:  2004-08       Impact factor: 5.958

Review 4.  Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges.

Authors:  Luca Persani
Journal:  J Clin Endocrinol Metab       Date:  2012-07-31       Impact factor: 5.958

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

Authors:  Yu Sun; Beata Bak; Nadia Schoenmakers; A S Paul van Trotsenburg; Wilma Oostdijk; Peter Voshol; Emma Cambridge; Jacqueline K White; Paul le Tissier; S Neda Mousavy Gharavy; Juan P Martinez-Barbera; Wilhelmina H Stokvis-Brantsma; Thomas Vulsma; Marlies J Kempers; Luca Persani; Irene Campi; Marco Bonomi; Paolo Beck-Peccoz; Hongdong Zhu; Timothy M E Davis; Anita C S Hokken-Koelega; Daria Gorbenko Del Blanco; Jayanti J Rangasami; Claudia A L Ruivenkamp; Jeroen F J Laros; Marjolein Kriek; Sarina G Kant; Cathy A J Bosch; Nienke R Biermasz; Natasha M Appelman-Dijkstra; Eleonora P Corssmit; Guido C J Hovens; Alberto M Pereira; Johan T den Dunnen; Michael G Wade; Martijn H Breuning; Raoul C Hennekam; Krishna Chatterjee; Mehul T Dattani; Jan M Wit; Daniel J Bernard
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330
  5 in total
  1 in total

Review 1.  The diagnosis and management of central hypothyroidism in 2018.

Authors:  Luca Persani; Biagio Cangiano; Marco Bonomi
Journal:  Endocr Connect       Date:  2019-02       Impact factor: 3.335
  1 in total

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