These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 7607282)

  • 1. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.
    Aalfs CM; van den Berg H; Barth PG; Hennekam RC
    Eur J Pediatr; 1995 Apr; 154(4):304-8. PubMed ID: 7607282
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Hoyeraal-Hreidarsson syndrome: the presentation of the seventh case.
    Nespoli L; Lascari C; Maccario R; Nosetti L; Broggi U; Locatelli F; Binda S; Gaudio F; Casalone R; Bosi F
    Eur J Pediatr; 1997 Oct; 156(10):818-20. PubMed ID: 9365078
    [No Abstract]   [Full Text] [Related]  

  • 3. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.
    Hreidarsson S; Kristjansson K; Johannesson G; Johannsson JH
    Acta Paediatr Scand; 1988 Sep; 77(5):773-5. PubMed ID: 3201986
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The longest surviving child with Hoyeraal-Hreidarsson Syndrome.
    Ozdemir MA; Karakukcu M; Kose M; Kumandas S; Gumus H
    Haematologica; 2004 Sep; 89(9):ECR38. PubMed ID: 15377490
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
    Yaghmai R; Kimyai-Asadi A; Rostamiani K; Heiss NS; Poustka A; Eyaid W; Bodurtha J; Nousari HC; Hamosh A; Metzenberg A
    J Pediatr; 2000 Mar; 136(3):390-3. PubMed ID: 10700698
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
    Lim BC; Yoo SK; Lee S; Shin JY; Hwang H; Chae JH; Hwang YS; Seo JS; Kim JI; Kim KJ
    Gene; 2014 Aug; 546(2):425-9. PubMed ID: 24914498
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.
    Berthet F; Caduff R; Schaad UB; Roten H; Tuchschmid P; Boltshauser E; Seger RA
    Eur J Pediatr; 1994 May; 153(5):333-8. PubMed ID: 8033921
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
    Burris AM; Ballew BJ; Kentosh JB; Turner CE; Norton SA; ; ; Giri N; Alter BP; Nellan A; Gamper C; Hartman KR; Savage SA
    Pediatr Neurol; 2016 Mar; 56():62-68.e1. PubMed ID: 26810774
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency.
    Berthet F; Tuchschmid P; Boltshauser E; Seger RA
    Eur J Pediatr; 1995 Dec; 154(12):998. PubMed ID: 8801113
    [No Abstract]   [Full Text] [Related]  

  • 10. Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome.
    Aalfs CM; Hennekam RC
    Am J Med Genet; 1995 Sep; 58(4):385. PubMed ID: 8533857
    [No Abstract]   [Full Text] [Related]  

  • 11. [A fatal autosomal recessive syndrome with multiple congenital contractures].
    Herva R; Leisti J; Kirkinen P; Seppänen U; Martikainen J
    Duodecim; 1985; 101(8):756-62. PubMed ID: 4039655
    [No Abstract]   [Full Text] [Related]  

  • 12. A case of Høyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs.
    Akaboshi S; Yoshimura M; Hara T; Kageyama H; Nishikwa K; Kawakami T; Ieshima A; Takeshita K
    Neuropediatrics; 2000 Jun; 31(3):141-4. PubMed ID: 10963101
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Cardiac symptoms in 2 patients with Seckel syndrome].
    Rappen U; von Brenndorff AI
    Monatsschr Kinderheilkd; 1993 Jul; 141(7):584-6. PubMed ID: 8413337
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.
    Bakar Ö; Işik U; Canpolat C; Alanay Y
    Pediatr Dermatol; 2015; 32(6):e263-6. PubMed ID: 26446280
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital infection-like syndrome with intracranial calcification.
    Mizuno Y; Takahashi K; Igarashi T; Saito M; Mizuguchi M
    Brain Dev; 2011 Jun; 33(6):530-3. PubMed ID: 20926212
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Neonatal diabetes mellitus and microcephaly. Indications for autosomal recessive inheritance].
    Reus S; Egidi R; Otten A; Aulepp U
    Monatsschr Kinderheilkd; 1992 Nov; 140(11):803-7. PubMed ID: 1470185
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.
    Mahmood F; King MD; Smyth OP; Farrell MA
    Neuropediatrics; 1998 Dec; 29(6):302-6. PubMed ID: 10029349
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
    Zhang MJ; Cao YX; Wu HY; Li HH
    Brain Behav; 2021 May; 11(5):e02079. PubMed ID: 33734615
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia.
    Revy P; Busslinger M; Tashiro K; Arenzana F; Pillet P; Fischer A; Durandy A
    Pediatrics; 2000 Mar; 105(3):E39. PubMed ID: 10699141
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
    Knoblauch H; Tennstedt C; Brueck W; Hammer H; Vulliamy T; Dokal I; Lehmann R; Hanefeld F; Tinschert S
    Am J Med Genet A; 2003 Jul; 120A(2):261-5. PubMed ID: 12833411
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.