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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

450 related items for PubMed ID: 15221788

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. [Genetic study of holoprosencephaly].
    Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V.
    Ann Biol Clin (Paris); 2003 Jul; 61(6):679-87. PubMed ID: 14711609
    [Abstract] [Full Text] [Related]

  • 3. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
    Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S.
    J Med Genet; 2011 Nov; 48(11):752-60. PubMed ID: 21940735
    [Abstract] [Full Text] [Related]

  • 4. Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.
    Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V.
    Hum Genet; 2003 Feb; 112(2):131-4. PubMed ID: 12522553
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
    Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, David V.
    Hum Genet; 2006 Mar; 119(1-2):1-8. PubMed ID: 16323008
    [Abstract] [Full Text] [Related]

  • 8. Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.
    Bertolacini CD, Richieri-Costa A, Ribeiro-Bicudo LA.
    Brain Dev; 2010 Mar; 32(3):217-22. PubMed ID: 19398181
    [Abstract] [Full Text] [Related]

  • 9. Variable phenotypic manifestations of a K44N mutation in the TGIF gene.
    Richieri-Costa A, Ribeiro LA.
    Brain Dev; 2008 Mar; 30(3):203-5. PubMed ID: 17825514
    [Abstract] [Full Text] [Related]

  • 10. The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
    Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.
    Eur J Hum Genet; 2010 Sep; 18(9):999-1005. PubMed ID: 20531442
    [Abstract] [Full Text] [Related]

  • 11. Holoprosencephaly.
    Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.
    Orphanet J Rare Dis; 2007 Feb 02; 2():8. PubMed ID: 17274816
    [Abstract] [Full Text] [Related]

  • 12. Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.
    Tatsi C, Sertedaki A, Voutetakis A, Valavani E, Magiakou MA, Kanaka-Gantenbein C, Chrousos GP, Dacou-Voutetakis C.
    J Clin Endocrinol Metab; 2013 Apr 02; 98(4):E779-84. PubMed ID: 23476075
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. 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 02; 22(2):196-8. PubMed ID: 10369266
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
    Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, Mottier S, Durou MR, Henry C, Odent S, David V.
    Hum Mutat; 2007 Dec 02; 28(12):1189-97. PubMed ID: 17683084
    [Abstract] [Full Text] [Related]

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

    Page: [Next] [New Search]
    of 23.