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 *

158 related articles for article (PubMed ID: 18798845)

  • 1. A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.
    Day R; Beckett B; Donnai D; Fryer A; Heidenblad M; Howard P; Kerr B; Mansour S; Maye U; McKee S; Mohammed S; Sweeney E; Tassabehji M; de Vries BB; Clayton-Smith J
    Clin Genet; 2008 Nov; 74(5):434-44. PubMed ID: 18798845
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
    Verloes A; Bremond-Gignac D; Isidor B; David A; Baumann C; Leroy MA; Stevens R; Gillerot Y; Héron D; Héron B; Benzacken B; Lacombe D; Brunner H; Bitoun P
    Am J Med Genet A; 2006 Jun; 140(12):1285-96. PubMed ID: 16700052
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
    Isidor B; Lefebvre T; Le Vaillant C; Caillaud G; Faivre L; Jossic F; Joubert M; Winer N; Le Caignec C; Borck G; Pelet A; Amiel J; Toutain A; Ronce N; Raynaud M; Verloes A; David A
    Am J Med Genet A; 2014 Jul; 164A(7):1821-5. PubMed ID: 24715367
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Vertical transmission of the Ohdo blepharophimosis syndrome.
    Mhanni AA; Dawson AJ; Chudley AE
    Am J Med Genet; 1998 May; 77(2):144-8. PubMed ID: 9605288
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
    Radvanszky J; Hyblova M; Durovcikova D; Hikkelova M; Fiedler E; Kadasi L; Turna J; Minarik G; Szemes T
    Clin Genet; 2017 Feb; 91(2):339-343. PubMed ID: 27452416
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome.
    Galletti B; Gazia F; Freni F; Nicita RA; Bruno R; Galletti F
    Am J Case Rep; 2019 Feb; 20():175-178. PubMed ID: 30739122
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
    Niida Y; Mitani Y; Kuroda M; Yokoi A; Nakagawa H; Kato A
    Congenit Anom (Kyoto); 2017 May; 57(3):86-88. PubMed ID: 27696664
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in MED12 cause X-linked Ohdo syndrome.
    Vulto-van Silfhout AT; de Vries BB; van Bon BW; Hoischen A; Ruiterkamp-Versteeg M; Gilissen C; Gao F; van Zwam M; Harteveld CL; van Essen AJ; Hamel BC; Kleefstra T; Willemsen MA; Yntema HG; van Bokhoven H; Brunner HG; Boyer TG; de Brouwer AP
    Am J Hum Genet; 2013 Mar; 92(3):401-6. PubMed ID: 23395478
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
    Melnyk AR
    Clin Dysmorphol; 1994 Apr; 3(2):121-4. PubMed ID: 7519949
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
    Szakszon K; Salpietro C; Kakar N; Knegt AC; Oláh É; Dallapiccola B; Borck G
    Am J Med Genet A; 2013 Apr; 161A(4):884-8. PubMed ID: 23436491
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Marden-Walker phenotype: a diagnostic dilemma.
    Soekarman D; Volcke P; Legius E; Holvoet M; Fryns JP
    Genet Couns; 1996; 7(1):31-9. PubMed ID: 8652086
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
    Lonardo F; Lonardo MS; Acquaviva F; Della Monica M; Scarano F; Scarano G
    Clin Genet; 2019 Feb; 95(2):253-261. PubMed ID: 28857140
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.
    Chandler KE; Kidd A; Al-Gazali L; Kolehmainen J; Lehesjoki AE; Black GC; Clayton-Smith J
    J Med Genet; 2003 Apr; 40(4):233-41. PubMed ID: 12676892
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.
    Marques-de-faria AP; Maciel-Guerra AT; Júnior GG; Baptista MT
    Clin Dysmorphol; 2000 Jul; 9(3):199-204. PubMed ID: 10955481
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
    Yilmaz R; Beleza-Meireles A; Price S; Oliveira R; Kubisch C; Clayton-Smith J; Szakszon K; Borck G
    Am J Med Genet A; 2015 Dec; 167A(12):3006-10. PubMed ID: 26334766
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.
    Li G; Li N; Li J; Ding Y; Yu T; Wang X; Wang J
    Fetal Pediatr Pathol; 2017 Apr; 36(2):130-138. PubMed ID: 28426343
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo
    Lundsgaard M; Le VQ; Ernst A; Laugaard-Jacobsen HC; Rasmussen K; Pedersen IS; Petersen MB
    Mol Syndromol; 2017 Jan; 8(1):24-29. PubMed ID: 28232779
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Marden-Walker phenotype: spectrum of variability in three infants.
    Ramer JC; Frankel CA; Ladda RL
    Am J Med Genet; 1993 Feb; 45(3):285-91. PubMed ID: 7679543
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
    Rasmussen M; Strømme P
    Clin Dysmorphol; 1998 Jan; 7(1):61-3. PubMed ID: 9546834
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.
    Merritt J; Hart JC; LeGrow TL
    BMJ Case Rep; 2017 Jul; 2017():. PubMed ID: 28710305
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.