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 *

213 related articles for article (PubMed ID: 9192261)

  • 1. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
    Kang S; Allen J; Graham JM; Grebe T; Clericuzio C; Patronas N; Ondrey F; Green E; Schäffer A; Abbott M; Biesecker LG
    J Med Genet; 1997 Jun; 34(6):441-6. PubMed ID: 9192261
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism.
    Stoll C; De Saint Martin A; Donato L; Alembik K; Sauvage P; Messer J
    Genet Couns; 2001; 12(3):231-5. PubMed ID: 11693785
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
    Biesecker LG; Kang S; Schäffer AA; Abbott M; Kelley RI; Allen JC; Clericuzio C; Grebe T; Olney A; Graham JM
    J Med Genet; 1996 Nov; 33(11):947-51. PubMed ID: 8950676
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
    Kariminejad A; Ghaderi-Sohi S; Keshavarz E; Hashemi SA; Parsimehr E; Szenker-Ravi E; Khatoo M; Faraji Zonooz M; Reversade B; Najmabadi H; Hennekam RC
    Clin Genet; 2020 Jun; 97(6):915-919. PubMed ID: 32112393
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Pallister-Hall syndrome].
    Oho Y; Okuyama T
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):23-5. PubMed ID: 11057130
    [No Abstract]   [Full Text] [Related]  

  • 9. Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
    Bönnemann CG; Krishnamoorthy KS; Johnston JJ; Lee MM; Fowler DJ; Biesecker LG; Holmes LB
    Am J Med Genet A; 2023 Sep; 191(9):2337-2343. PubMed ID: 37435845
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
    Freese K; Driess S; Bornholdt D; Shoenle EJ; Seidel H; Tinschert S; Grzeschik KH; Kalff-Suske M
    Hum Genet; 2003 Jan; 112(1):103. PubMed ID: 12575661
    [No Abstract]   [Full Text] [Related]  

  • 11. Gonadal mosaicism in severe Pallister-Hall syndrome.
    Ng D; Johnston JJ; Turner JT; Boudreau EA; Wiggs EA; Theodore WH; Biesecker LG
    Am J Med Genet A; 2004 Jan; 124A(3):296-302. PubMed ID: 14708104
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal dominant transmission of the Pallister-Hall syndrome.
    Topf KF; Kletter GB; Kelch RP; Brunberg JA; Biesecker LG
    J Pediatr; 1993 Dec; 123(6):943-6. PubMed ID: 8229528
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome.
    Ondrey F; Griffith A; Van Waes C; Rudy S; Peters K; McCullagh L; Biesecker LG
    Am J Med Genet; 2000 Sep; 94(1):64-7. PubMed ID: 10982485
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal dominant transmission of Pallister-Hall syndrome.
    Penman Splitt M; Wright C; Perry R; Burn J
    Clin Dysmorphol; 1994 Oct; 3(4):301-8. PubMed ID: 7894735
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.
    Kremer S; Minotti L; Thiriaux A; Grand S; Satre V; Le Bas JF; Kahane P
    Epileptic Disord; 2003 Mar; 5(1):27-30. PubMed ID: 12773293
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.
    Killoran CE; Abbott M; McKusick VA; Biesecker LG
    Clin Genet; 2000 Jul; 58(1):28-30. PubMed ID: 10945658
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The molecular basis of Pallister Hall associated polydactyly.
    Hill P; Wang B; Rüther U
    Hum Mol Genet; 2007 Sep; 16(17):2089-96. PubMed ID: 17588959
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.
    Green TE; Schimmel M; Schubert S; Lemke JR; Bennett MF; Hildebrand MS; Berkovic SF
    Eur J Hum Genet; 2022 Mar; 30(3):384-388. PubMed ID: 35034092
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
    Li MH; Eberhard M; Mudd P; Javia L; Zimmerman R; Khalek N; Zackai EH
    Am J Med Genet A; 2015 Mar; 167A(3):617-20. PubMed ID: 25604768
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.