BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

260 related articles for article (PubMed ID: 10441342)

  • 1. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
    Kalff-Suske M; Wild A; Topp J; Wessling M; Jacobsen EM; Bornholdt D; Engel H; Heuer H; Aalfs CM; Ausems MG; Barone R; Herzog A; Heutink P; Homfray T; Gillessen-Kaesbach G; König R; Kunze J; Meinecke P; Müller D; Rizzo R; Strenge S; Superti-Furga A; Grzeschik KH
    Hum Mol Genet; 1999 Sep; 8(9):1769-77. PubMed ID: 10441342
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
    Johnston JJ; Olivos-Glander I; Killoran C; Elson E; Turner JT; Peters KF; Abbott MH; Aughton DJ; Aylsworth AS; Bamshad MJ; Booth C; Curry CJ; David A; Dinulos MB; Flannery DB; Fox MA; Graham JM; Grange DK; Guttmacher AE; Hannibal MC; Henn W; Hennekam RC; Holmes LB; Hoyme HE; Leppig KA; Lin AE; Macleod P; Manchester DK; Marcelis C; Mazzanti L; McCann E; McDonald MT; Mendelsohn NJ; Moeschler JB; Moghaddam B; Neri G; Newbury-Ecob R; Pagon RA; Phillips JA; Sadler LS; Stoler JM; Tilstra D; Walsh Vockley CM; Zackai EH; Zadeh TM; Brueton L; Black GC; Biesecker LG
    Am J Hum Genet; 2005 Apr; 76(4):609-22. PubMed ID: 15739154
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Point mutations in human GLI3 cause Greig syndrome.
    Wild A; Kalff-Suske M; Vortkamp A; Bornholdt D; König R; Grzeschik KH
    Hum Mol Genet; 1997 Oct; 6(11):1979-84. PubMed ID: 9302279
    [TBL] [Abstract][Full Text] [Related]  

  • 4. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
    Kang S; Graham JM; Olney AH; Biesecker LG
    Nat Genet; 1997 Mar; 15(3):266-8. PubMed ID: 9054938
    [TBL] [Abstract][Full Text] [Related]  

  • 5. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.
    Shin SH; Kogerman P; Lindström E; Toftgárd R; Biesecker LG
    Proc Natl Acad Sci U S A; 1999 Mar; 96(6):2880-4. PubMed ID: 10077605
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.
    Vortkamp A; Gessler M; Grzeschik KH
    Nature; 1991 Aug; 352(6335):539-40. PubMed ID: 1650914
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gene structure and allelic expression assay of the human GLI3 gene.
    Kang S; Rosenberg M; Ko VD; Biesecker LG
    Hum Genet; 1997 Dec; 101(2):154-7. PubMed ID: 9402960
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
    Radhakrishna U; Bornholdt D; Scott HS; Patel UC; Rossier C; Engel H; Bottani A; Chandal D; Blouin JL; Solanki JV; Grzeschik KH; Antonarakis SE
    Am J Hum Genet; 1999 Sep; 65(3):645-55. PubMed ID: 10441570
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
    Debeer P; Peeters H; Driess S; De Smet L; Freese K; Matthijs G; Bornholdt D; Devriendt K; Grzeschik KH; Fryns JP; Kalff-Suske M
    Am J Med Genet A; 2003 Jul; 120A(1):49-58. PubMed ID: 12794692
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.
    Jamsheer A; Sowińska A; Trzeciak T; Jamsheer-Bratkowska M; Geppert A; Latos-Bieleńska A
    J Appl Genet; 2012 Nov; 53(4):415-22. PubMed ID: 22903559
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
    Johnston JJ; Sapp JC; Turner JT; Amor D; Aftimos S; Aleck KA; Bocian M; Bodurtha JN; Cox GF; Curry CJ; Day R; Donnai D; Field M; Fujiwara I; Gabbett M; Gal M; Graham JM; Hedera P; Hennekam RC; Hersh JH; Hopkin RJ; Kayserili H; Kidd AM; Kimonis V; Lin AE; Lynch SA; Maisenbacher M; Mansour S; McGaughran J; Mehta L; Murphy H; Raygada M; Robin NH; Rope AF; Rosenbaum KN; Schaefer GB; Shealy A; Smith W; Soller M; Sommer A; Stalker HJ; Steiner B; Stephan MJ; Tilstra D; Tomkins S; Trapane P; Tsai AC; Van Allen MI; Vasudevan PC; Zabel B; Zunich J; Black GC; Biesecker LG
    Hum Mutat; 2010 Oct; 31(10):1142-54. PubMed ID: 20672375
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
    Johnston JJ; Olivos-Glander I; Turner J; Aleck K; Bird LM; Mehta L; Schimke RN; Heilstedt H; Spence JE; Blancato J; Biesecker LG
    Am J Med Genet A; 2003 Dec; 123A(3):236-42. PubMed ID: 14608643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Point mutations in GLI3 lead to misregulation of its subcellular localization.
    Krauss S; So J; Hambrock M; Köhler A; Kunath M; Scharff C; Wessling M; Grzeschik KH; Schneider R; Schweiger S
    PLoS One; 2009 Oct; 4(10):e7471. PubMed ID: 19829694
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
    Elson E; Perveen R; Donnai D; Wall S; Black GC
    J Med Genet; 2002 Nov; 39(11):804-6. PubMed ID: 12414818
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt).
    Vortkamp A; Franz T; Gessler M; Grzeschik KH
    Mamm Genome; 1992; 3(8):461-3. PubMed ID: 1322743
    [No Abstract]   [Full Text] [Related]  

  • 16. Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.
    Naruse I; Ueta E; Sumino Y; Ogawa M; Ishikiriyama S
    Congenit Anom (Kyoto); 2010 Mar; 50(1):1-7. PubMed ID: 20201963
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region.
    Vortkamp A; Gessler M; Le Paslier D; Elaswarapu R; Smith S; Grzeschik KH
    Genomics; 1994 Aug; 22(3):563-8. PubMed ID: 8001967
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New insights into genotype-phenotype correlation for GLI3 mutations.
    Démurger F; Ichkou A; Mougou-Zerelli S; Le Merrer M; Goudefroye G; Delezoide AL; Quélin C; Manouvrier S; Baujat G; Fradin M; Pasquier L; Megarbané A; Faivre L; Baumann C; Nampoothiri S; Roume J; Isidor B; Lacombe D; Delrue MA; Mercier S; Philip N; Schaefer E; Holder M; Krause A; Laffargue F; Sinico M; Amram D; André G; Liquier A; Rossi M; Amiel J; Giuliano F; Boute O; Dieux-Coeslier A; Jacquemont ML; Afenjar A; Van Maldergem L; Lackmy-Port-Lis M; Vincent-Delorme C; Chauvet ML; Cormier-Daire V; Devisme L; Geneviève D; Munnich A; Viot G; Raoul O; Romana S; Gonzales M; Encha-Razavi F; Odent S; Vekemans M; Attie-Bitach T
    Eur J Hum Genet; 2015 Jan; 23(1):92-102. PubMed ID: 24736735
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pallister-Hall syndrome phenotype in mice mutant for Gli3.
    Böse J; Grotewold L; Rüther U
    Hum Mol Genet; 2002 May; 11(9):1129-35. PubMed ID: 11978771
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
    Ito S; Kitazawa R; Haraguchi R; Kondo T; Ouchi A; Ueda Y; Kitazawa S
    Diagn Pathol; 2018 Jan; 13(1):1. PubMed ID: 29368652
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.