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 *

147 related articles for article (PubMed ID: 25846266)

  • 1. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
    Jamuar SS; Duzkale H; Duzkale N; Zhang C; High FA; Kaban L; Bhattacharya S; Crandall B; Kantarci S; Stoler JM; Lin AE
    Am J Med Genet A; 2015 Jun; 167(6):1400-5. PubMed ID: 25846266
    [No Abstract]   [Full Text] [Related]  

  • 2. Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
    Overhoff J; Rabideau MM; Bird LM; Schweitzer DN; Haynes K; Schultz RA; Shaffer LG; Rosenfeld JA; Ellison JW
    Am J Med Genet A; 2014 Jan; 164A(1):259-63. PubMed ID: 24259484
    [No Abstract]   [Full Text] [Related]  

  • 3. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.
    Debost-Legrand A; Eymard-Pierre E; Pebrel-Richard C; Gouas L; Goumy C; Giollant M; Ayed W; Tchirkov A; Francannet C; Vago P
    Am J Med Genet A; 2013 Jan; 161A(1):162-5. PubMed ID: 23239647
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
    Allanson J; Smith A; Hare H; Albrecht B; Bijlsma E; Dallapiccola B; Donti E; Fitzpatrick D; Isidor B; Lachlan K; Le Caignec C; Prontera P; Raas-Rothschild A; Rogaia D; van Bon B; Aradhya S; Crocker SF; Jarinova O; McGowan-Jordan J; Boycott K; Bulman D; Fagerberg CR
    Am J Med Genet A; 2012 Sep; 158A(9):2091-9. PubMed ID: 22821852
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A case of Nablus mask-like facial syndrome with autism spectrum disorders.
    Akaltun İ; Kara T
    Psychiatr Genet; 2018 Aug; 28(4):75. PubMed ID: 29957742
    [No Abstract]   [Full Text] [Related]  

  • 6. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
    Shieh JT; Aradhya S; Novelli A; Manning MA; Cherry AM; Brumblay J; Salpietro CD; Bernardini L; Dallapiccola B; Hoyme HE
    Am J Med Genet A; 2006 Jun; 140(12):1267-73. PubMed ID: 16691576
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family.
    Sachdev M; Rastogi A; Singh A; Kumar K; Kapoor S; Bansal Y; Goel S
    Ophthalmic Genet; 2013; 34(1-2):65-8. PubMed ID: 22697357
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Nablus syndrome: Easy to diagnose yet difficult to solve.
    Allanson J; Smith A; Forzano F; Lin AE; Raas-Rothschild A; Howley HE; Boycott KM
    Am J Med Genet C Semin Med Genet; 2018 Dec; 178(4):447-457. PubMed ID: 30580486
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.
    Quintela I; Barros F; Castro-Gago M; Carracedo A; Eiris J
    Am J Med Genet A; 2015 Jun; 167(6):1369-73. PubMed ID: 25898976
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of the ocular findings in the nablus masklike facial syndrome.
    Lance S; Wong G; Young D
    J AAPOS; 2016 Oct; 20(5):457-459. PubMed ID: 27647115
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mosaic supernumerary r(8) syndrome.
    Yilmaz S; Tarkan-Argüden Y; Kuru D; Deviren A; Karaman B; Yüksel A; Hacihanefioğlu S
    Genet Couns; 2005; 16(2):187-90. PubMed ID: 16080301
    [No Abstract]   [Full Text] [Related]  

  • 14. Further delineation of the KAT6B molecular and phenotypic spectrum.
    Gannon T; Perveen R; Schlecht H; Ramsden S; Anderson B; Kerr B; Day R; Banka S; Suri M; Berland S; Gabbett M; Ma A; Lyonnet S; Cormier-Daire V; Yilmaz R; Borck G; Wieczorek D; Anderlid BM; Smithson S; Vogt J; Moore-Barton H; Simsek-Kiper PO; Maystadt I; Destrée A; Bucher J; Angle B; Mohammed S; Wakeling E; Price S; Singer A; Sznajer Y; Toutain A; Haye D; Newbury-Ecob R; Fradin M; McGaughran J; Tuysuz B; Tein M; Bouman K; Dabir T; Van den Ende J; Luk HM; Pilz DT; Eason J; Davies S; Reardon W; Garavelli L; Zuffardi O; Devriendt K; Armstrong R; Johnson D; Doco-Fenzy M; Bijlsma E; Unger S; Veenstra-Knol HE; Kohlhase J; Lo IF; ; Smith J; Clayton-Smith J
    Eur J Hum Genet; 2015 Sep; 23(9):1165-70. PubMed ID: 25424711
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Precocious puberty associated with partial trisomy 18q and monosomy 11q.
    Mutesa L; Hellin AC; Jamar M; Pierquin G; Bours V; Verloes A
    Genet Couns; 2007; 18(2):201-7. PubMed ID: 17710872
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
    Carrascosa-Romero MC; Suela J; Pardal-Fernández JM; Bermejo-Sánchez E; Vidal-Company A; MacDonald A; Tébar-Gil R; Martínez-Fernández ML; Martínez-Frías ML
    Am J Med Genet A; 2013 Sep; 161A(9):2281-90. PubMed ID: 23894067
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
    Kuechler A; Buysse K; Clayton-Smith J; Le Caignec C; David A; Engels H; Kohlhase J; Mari F; Mortier G; Renieri A; Wieczorek D
    Am J Med Genet A; 2011 Aug; 155A(8):1857-64. PubMed ID: 21739578
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.
    Jain S; Yang P; Farrell SA
    Eur J Med Genet; 2010; 53(2):108-10. PubMed ID: 20074678
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 10qter deletion: a new case.
    Piccione M; Antona V; Piro E; Cavani S; Malacarne M; Pierluigi M; Corsello G
    Am J Med Genet A; 2008 Sep; 146A(18):2435-8. PubMed ID: 18698621
    [No Abstract]   [Full Text] [Related]  

  • 20. Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review.
    Bas A; Sarac F; Derelioglu S
    J Clin Pediatr Dent; 2023 May; 47(3):103-108. PubMed ID: 37143428
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.