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Journal Abstract Search

313 related items for PubMed ID: 16199538

  • 1. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
    Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M.
    J Med Genet; 2006 Jun; 43(6):496-500. PubMed ID: 16199538
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
    Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M.
    Eur J Med Genet; 2008 Mar; 51(2):106-12. PubMed ID: 18178536
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 7. Holoprosencephaly: molecular study of a California population.
    Nanni L, Croen LA, Lammer EJ, Muenke M.
    Am J Med Genet; 2000 Feb 14; 90(4):315-9. PubMed ID: 10710230
    [Abstract] [Full Text] [Related]

  • 8. Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
    Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG.
    Hum Genet; 2010 Apr 14; 127(4):421-40. PubMed ID: 20066439
    [Abstract] [Full Text] [Related]

  • 9. 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 14; 30(10):E946-55. PubMed ID: 19606496
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 98(4):E779-84. PubMed ID: 23476075
    [Abstract] [Full Text] [Related]

  • 11. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
    Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.
    J Med Genet; 2009 Jun 14; 46(6):389-98. PubMed ID: 19346217
    [Abstract] [Full Text] [Related]

  • 12. 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 14; 28(12):1189-97. PubMed ID: 17683084
    [Abstract] [Full Text] [Related]

  • 13. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
    Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ.
    Nat Genet; 2000 Jun 14; 25(2):205-8. PubMed ID: 10835638
    [Abstract] [Full Text] [Related]

  • 14. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
    Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M.
    Am J Med Genet C Semin Med Genet; 2010 Feb 15; 154C(1):93-101. PubMed ID: 20104604
    [Abstract] [Full Text] [Related]

  • 15. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
    Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V.
    Hum Mutat; 2009 Aug 15; 30(8):1175-82. PubMed ID: 19431187
    [Abstract] [Full Text] [Related]

  • 16. Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
    Orioli IM, Castilla EE, Ming JE, Nazer J, Burle de Aguiar MJ, Llerena JC, Muenke M.
    Hum Genet; 2001 Jul 15; 109(1):1-6. PubMed ID: 11479728
    [Abstract] [Full Text] [Related]

  • 17. [Genetic study of holoprosencephaly].
    Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V.
    Ann Biol Clin (Paris); 2003 Jul 15; 61(6):679-87. PubMed ID: 14711609
    [Abstract] [Full Text] [Related]

  • 18. Phenotypic and molecular variability of the holoprosencephalic spectrum.
    Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S.
    Am J Med Genet A; 2004 Aug 15; 129A(1):21-4. PubMed ID: 15266610
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 26(3):226-30. PubMed ID: 16475235
    [Abstract] [Full Text] [Related]

  • 20. Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.
    Roessler E, Vélez JI, Zhou N, Muenke M.
    Mol Genet Metab; 2012 Apr 15; 105(4):658-64. PubMed ID: 22310223
    [Abstract] [Full Text] [Related]

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