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 *

135 related articles for article (PubMed ID: 30455963)

  • 1. A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma.
    Courtney E; Swee DS; Ishak D; Ngeow J
    Hum Genome Var; 2018; 5():31. PubMed ID: 30455963
    [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. Familial Pallister-Hall in adulthood.
    Talsania M; Sharma R; Sughrue ME; Scofield RH; Lim J
    Neuro Endocrinol Lett; 2017 Oct; 38(5):329-331. PubMed ID: 29106787
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
    Consales A; Ardemani G; Cinnante CM; Catalano MR; Giavoli C; Villa R; Iascone M; Fontana C; Bedeschi MF; Fumagalli M
    BMC Neurol; 2022 Mar; 22(1):118. PubMed ID: 35331151
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. [Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome].
    Hou X; Wang J; Lu Y; Yu D; Yang J; Li N; Yang H; Wu K
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):92-95. PubMed ID: 36585009
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel
    Yang Y; Shen F; Jing XP; Zhang N; Xu SY; Li DD; Zhou LL; Bai GH; Fang HY; Zhang ZD; Pang C; Lin J; Sheng HS
    Front Surg; 2021; 8():734757. PubMed ID: 34631784
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Pallister-Hall Syndrome Presenting in Adolescence.
    Mahtabfar A; Buckley N; Murphy S; Danish S; Marshall I
    Case Rep Genet; 2019; 2019():6845836. PubMed ID: 31011455
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.
    Galasso C; Scirè G; Fabbri F; Spadoni GL; Killoran CE; Biesecker LG; Boscherini B
    Am J Med Genet; 2001 Mar; 99(2):128-31. PubMed ID: 11241471
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome.
    Dunham C; McFadden D; Dahlgren L; Butler B; Hamilton S; McKinnon M
    Pediatr Dev Pathol; 2018; 21(3):324-331. PubMed ID: 28429635
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pallister-Hall Syndrome.
    Chandra SR; Daryappa MM; Mukheem Mudabbir MA; Pooja M; Arivazhagan A
    J Pediatr Neurosci; 2017; 12(3):276-279. PubMed ID: 29204208
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.
    Löw M; Moringlane JR; Reif J; Barbier D; Beige G; Kolles H; Kujat C; Zang KD; Henn W
    Clin Genet; 1995 Oct; 48(4):209-12. PubMed ID: 8591673
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.