Literature DB >> 9007502

What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome?

S Ohga, T Kai, K Honda, H Nakayama, T Inamitsu, K Ueda.   

Abstract

Entities:  

Mesh：

Year:  1997        PMID： 9007502

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

Review 1.  The molecular genetics of the telomere biology disorders.

Authors:  Alison A Bertuch
Journal:  RNA Biol       Date:  2015-09-23       Impact factor: 4.652

2.  Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy.

Authors:  Racha Khalaf; Carmen Cuffari
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2018-01-12

Review 3.  Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

Authors:  Yves Sznajer; Clarisse Baumann; Albert David; Hubert Journel; Didier Lacombe; Yves Perel; Pascale Blouin; Jean-François Segura; Jean-Pierre Cezard; Michel Peuchmaur; Tomy Vulliamy; Inderjeet Dokal; Alain Verloes
Journal:  Eur J Pediatr       Date:  2003-09-30       Impact factor: 3.183

Review 4.  Molecular mechanisms of telomere biology disorders.

Authors:  Sherilyn Grill; Jayakrishnan Nandakumar
Journal:  J Biol Chem       Date:  2020-11-22       Impact factor: 5.486

Review 5.  Ocular findings and genomics of X-linked recessive disorders: A review.

Authors:  Asima Hassan; Yaser R Mir; Raja A H Kuchay
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

Review 6.  Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Authors:  Maria M Gramatges; Alison A Bertuch
Journal:  Transl Res       Date:  2013-06-01       Impact factor: 10.171

Review 7.  Revesz syndrome revisited.

Authors:  Michael Karremann; Eva Neumaier-Probst; Frank Schlichtenbrede; Fabian Beier; Tim H Brümmendorf; Friedrich W Cremer; Peter Bader; Matthias Dürken
Journal:  Orphanet J Rare Dis       Date:  2020-10-23       Impact factor: 4.123
  7 in total

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