BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

111 related articles for article (PubMed ID: 9504798)

  • 1. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?
    Schaap C; ten Tusscher MP; Schrander JJ; Kuijten RH; Schrander-Stumpel CT
    Eur J Pediatr; 1998 Feb; 157(2):170-1. PubMed ID: 9504798
    [No Abstract]   [Full Text] [Related]  

  • 2. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
    Slavotinek AM; Searby C; Al-Gazali L; Hennekam RC; Schrander-Stumpel C; Orcana-Losa M; Pardo-Reoyo S; Cantani A; Kumar D; Capellini Q; Neri G; Zackai E; Biesecker LG
    Hum Genet; 2002 Jun; 110(6):561-7. PubMed ID: 12107442
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bardet-Biedl syndrome and related disorders.
    Schachat AP; Maumenee IH
    Arch Ophthalmol; 1982 Feb; 100(2):285-8. PubMed ID: 7065946
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
    Fath MA; Mullins RF; Searby C; Nishimura DY; Wei J; Rahmouni K; Davis RE; Tayeh MK; Andrews M; Yang B; Sigmund CD; Stone EM; Sheffield VC
    Hum Mol Genet; 2005 May; 14(9):1109-18. PubMed ID: 15772095
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome.
    Dyer DS; Wilson ME; Small KW; Pai GS
    J Pediatr Ophthalmol Strabismus; 1994; 31(4):272-4. PubMed ID: 7807310
    [No Abstract]   [Full Text] [Related]  

  • 6. Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.
    Hou JW
    J Formos Med Assoc; 2004 Aug; 103(8):629-32. PubMed ID: 15340663
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].
    Hamel BC; ter Haar BG
    Tijdschr Kindergeneeskd; 1984 Aug; 52(4):129-33. PubMed ID: 6495304
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.
    Traisrisilp K; Nunthapiwat S; Luewan S; Tongsong T
    J Clin Ultrasound; 2021 Jan; 49(1):62-65. PubMed ID: 32537787
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.
    Slavotinek AM; Biesecker LG
    Am J Med Genet; 2000 Nov; 95(3):208-15. PubMed ID: 11102925
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
    David A; Bitoun P; Lacombe D; Lambert JC; Nivelon A; Vigneron J; Verloes A
    J Med Genet; 1999 Aug; 36(8):599-603. PubMed ID: 10465109
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
    Hulleman JD; Nguyen A; Ramprasad VL; Murugan S; Gupta R; Mahindrakar A; Angara R; Sankurathri C; Mootha VV
    Mol Vis; 2016; 22():73-81. PubMed ID: 26900326
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bardet-Biedl syndrome.
    Steiner PA
    J Am Optom Assoc; 1990 Nov; 61(11):852-5. PubMed ID: 2081829
    [TBL] [Abstract][Full Text] [Related]  

  • 13. McKusick-Kaufman syndrome: report of an instructive family.
    Vince JD; Martin NJ
    Am J Med Genet; 1989 Feb; 32(2):174-7. PubMed ID: 2564737
    [TBL] [Abstract][Full Text] [Related]  

  • 14. McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.
    Schaap C; de Die-Smulders CE; Kuijten RH; Fryns JP
    Eur J Pediatr; 1992 Aug; 151(8):583-5. PubMed ID: 1505577
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Our experience with McKusick-Kaufman syndrome patients.
    Sonmez K; Turkyilmaz Z; Karabulut R; Turan O; Onal EE; Aslan D; Basaklar AC
    Bratisl Lek Listy; 2011; 112(9):524-6. PubMed ID: 21954533
    [TBL] [Abstract][Full Text] [Related]  

  • 16. McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
    Gaucherand P; Vavasseur-Monot C; Ollagnon E; Boisson C; Labaune JM; Basset T; Yared G
    Prenat Diagn; 2002 Nov; 22(11):1048-50. PubMed ID: 12424774
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Ophthalmologic manifestations of Bardet-Biedl syndrome].
    Sohár N; Jánossy Á; Janáky M; Facskó A
    Orv Hetil; 2013 Dec; 154(52):2071-7. PubMed ID: 24374583
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.
    Elbedour K; Zucker N; Zalzstein E; Barki Y; Carmi R
    Am J Med Genet; 1994 Aug; 52(2):164-9. PubMed ID: 7802002
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical features of Bardet-Biedl syndrome with renal abnormalities as initial manifestations].
    Wang H; Fu Q; Shen Y; Liu X; Zhou N; Liang Y; Yao Y
    Zhonghua Er Ke Za Zhi; 2014 Aug; 52(8):611-5. PubMed ID: 25224240
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.
    Cherian MP; Al-Sanna'a NA; Ayyat FM
    J Pediatr Urol; 2008 Aug; 4(4):313-6. PubMed ID: 18644538
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.