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 *

244 related articles for article (PubMed ID: 9771712)

  • 1. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
    Brown SA; Warburton D; Brown LY; Yu CY; Roeder ER; Stengel-Rutkowski S; Hennekam RC; Muenke M
    Nat Genet; 1998 Oct; 20(2):180-3. PubMed ID: 9771712
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
    Wallis DE; Roessler E; Hehr U; Nanni L; Wiltshire T; Richieri-Costa A; Gillessen-Kaesbach G; Zackai EH; Rommens J; Muenke M
    Nat Genet; 1999 Jun; 22(2):196-8. PubMed ID: 10369266
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
    Quélin C; Bendavid C; Dubourg C; de la Rochebrochard C; Lucas J; Henry C; Jaillard S; Loget P; Loeuillet L; Lacombe D; Rival JM; David V; Odent S; Pasquier L
    Eur J Med Genet; 2009; 52(1):41-6. PubMed ID: 19022413
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
    McCormack WM; Shen JJ; Curry SM; Berend SA; Kashork C; Pinar H; Potocki L; Bejjani BA
    Am J Med Genet; 2002 Nov; 112(4):384-9. PubMed ID: 12376941
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The ZIC gene family in development and disease.
    Grinberg I; Millen KJ
    Clin Genet; 2005 Apr; 67(4):290-6. PubMed ID: 15733262
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
    Dubourg C; Lazaro L; Pasquier L; Bendavid C; Blayau M; Le Duff F; Durou MR; Odent S; David V
    Hum Mutat; 2004 Jul; 24(1):43-51. PubMed ID: 15221788
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
    Pasquier L; Dubourg C; Blayau M; Lazaro L; Le Marec B; David V; Odent S
    Eur J Hum Genet; 2000 Oct; 8(10):797-800. PubMed ID: 11039582
    [TBL] [Abstract][Full Text] [Related]  

  • 8. In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
    Brown L; Paraso M; Arkell R; Brown S
    Hum Mol Genet; 2005 Feb; 14(3):411-20. PubMed ID: 15590697
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
    Brown LY; Odent S; David V; Blayau M; Dubourg C; Apacik C; Delgado MA; Hall BD; Reynolds JF; Sommer A; Wieczorek D; Brown SA; Muenke M
    Hum Mol Genet; 2001 Apr; 10(8):791-6. PubMed ID: 11285244
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.
    Mimaki M; Shiihara T; Watanabe M; Hirakata K; Sakazume S; Ishiguro A; Shimojima K; Yamamoto T; Oka A; Mizuguchi M
    Brain Dev; 2015 Aug; 37(7):714-8. PubMed ID: 25454392
    [TBL] [Abstract][Full Text] [Related]  

  • 11. EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally.
    Abe Y; Oka A; Mizuguchi M; Igarashi T; Ishikawa S; Aburatani H; Yokoyama S; Asahara H; Nagao K; Yamada M; Miyashita T
    Hum Mutat; 2009 Oct; 30(10):E946-55. PubMed ID: 19606496
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.
    Chabchoub E; Willekens D; Vermeesch JR; Fryns JP
    Clin Genet; 2012 Jun; 81(6):584-9. PubMed ID: 21496007
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.
    Savastano CP; Bernardi P; Seuánez HN; Moreira MÂ; Orioli IM
    Birth Defects Res A Clin Mol Teratol; 2014 Apr; 100(4):300-6. PubMed ID: 24677696
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in holoprosencephaly.
    Wallis D; Muenke M
    Hum Mutat; 2000; 16(2):99-108. PubMed ID: 10923031
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.
    Berti L; Mittler G; Przemeck GK; Stelzer G; Günzler B; Amati F; Conti E; Dallapiccola B; Hrabé de Angelis M; Novelli G; Meisterernst M
    Genomics; 2001 Jun; 74(3):320-32. PubMed ID: 11414760
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.
    Tasdemir S; Sahin I; Cayır A; Doneray H; Solomon BD; Muenke M; Yuce I; Tatar A
    J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):777-81. PubMed ID: 24706429
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.
    Kamnasaran D; Chen CP; Devriendt K; Mehta L; Cox DW
    Genomics; 2005 May; 85(5):608-21. PubMed ID: 15820313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.
    Chen M; Kuo SJ; Liu CS; Chen WL; Ko TM; Chen TH; Chang SP; Huang CH; Chang YY; Wang BT
    Prenat Diagn; 2006 Mar; 26(3):226-30. PubMed ID: 16475235
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Duplication of the ZIC2 gene is not associated with holoprosencephaly.
    Jobanputra V; Burke A; Kwame AY; Shanmugham A; Shirazi M; Brown S; Warburton PE; Levy B; Warburton D
    Am J Med Genet A; 2012 Jan; 158A(1):103-8. PubMed ID: 22105922
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cloning, characterization, localization, and mutational screening of the human BARX1 gene.
    Gould DB; Walter MA
    Genomics; 2000 Sep; 68(3):336-42. PubMed ID: 10995576
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.