Literature DB >> 8801113

The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency.

F Berthet, P Tuchschmid, E Boltshauser, R A Seger.   

Abstract

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Year:  1995        PMID： 8801113     DOI： 10.1007/bf01958649

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


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  4 in total

1.  Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.

Authors:  H M Hoyeraal; J Lamvik; P J Moe
Journal:  Acta Paediatr Scand       Date:  1970-03

Review 2.  A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.

Authors:  F Berthet; R Caduff; U B Schaad; H Roten; P Tuchschmid; E Boltshauser; R A Seger
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

3.  The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.

Authors:  C M Aalfs; H van den Berg; P G Barth; R C Hennekam
Journal:  Eur J Pediatr       Date:  1995-04       Impact factor: 3.183

4.  A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.

Authors:  S Hreidarsson; K Kristjansson; G Johannesson; J H Johannsson
Journal:  Acta Paediatr Scand       Date:  1988-09
  4 in total
  8 in total

1.  Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

Authors:  Fabien Touzot; Laetitia Kermasson; Laurent Jullien; Despina Moshous; Christelle Ménard; Aydan Ikincioğullari; Figen Doğu; Sinan Sari; Vannina Giacobbi-Milet; Amos Etzioni; Jean Soulier; Arturo Londono-Vallejo; Alain Fischer; Isabelle Callebaut; Jean-Pierre de Villartay; Thierry Leblanc; Caroline Kannengiesser; Patrick Revy
Journal:  Blood Adv       Date:  2016-11-22

2.  Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Authors:  G S Sasa; A Ribes-Zamora; N D Nelson; A A Bertuch
Journal:  Clin Genet       Date:  2011-04-07       Impact factor: 4.438

3.  Telomere dysfunction in human diseases: the long and short of it!

Authors:  Kathryn A Carroll; Hinh Ly
Journal:  Int J Clin Exp Pathol       Date:  2009-05-10

4.  Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

Authors:  Asbjorg Stray-Pedersen; Emmanuelle Jouanguy; Amandine Crequer; Alison A Bertuch; Betty S Brown; Shalini N Jhangiani; Donna M Muzny; Tomasz Gambin; Hanne Sorte; Ghadir Sasa; Denise Metry; Judith Campbell; Marianna M Sockrider; Megan K Dishop; David M Scollard; Richard A Gibbs; Emily M Mace; Jordan S Orange; James R Lupski; Jean-Laurent Casanova; Lenora M Noroski
Journal:  J Clin Immunol       Date:  2014-07-30       Impact factor: 8.317

Review 5.  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 6.  Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Authors:  Galina Glousker; Fabien Touzot; Patrick Revy; Yehuda Tzfati; Sharon A Savage
Journal:  Br J Haematol       Date:  2015-05-04       Impact factor: 6.998

Review 7.  Primary immunodeficiency diseases associated with neurologic manifestations.

Authors:  Soodabeh Fazeli Dehkordy; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2011-10-26       Impact factor: 8.542

Review 8.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738
  8 in total

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