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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

200 related items for PubMed ID: 29785796

  • 21. Holoprosencephaly: A clinical genomics perspective.
    Solomon BD, Retterer K, Juusola J.
    Am J Med Genet C Semin Med Genet; 2018 Jun; 178(2):194-197. PubMed ID: 29749690
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  • 23. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
    Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M.
    Hum Mol Genet; 1997 Oct; 6(11):1847-53. PubMed ID: 9302262
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  • 24. Holoprosencephaly: An update on cytogenetic abnormalities.
    Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C, David V.
    Am J Med Genet C Semin Med Genet; 2010 Feb 15; 154C(1):86-92. PubMed ID: 20104602
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  • 25. Syndromes associated with holoprosencephaly.
    Kruszka P, Muenke M.
    Am J Med Genet C Semin Med Genet; 2018 Jun 15; 178(2):229-237. PubMed ID: 29770994
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  • 26. Prenatal findings of holoprosencephaly.
    Hayashi Y, Suzumori N, Sugiura T, Sugiura-Ogasawara M.
    Congenit Anom (Kyoto); 2015 Aug 15; 55(3):161-3. PubMed ID: 25620469
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  • 27. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.
    Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing ProgramMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Ribeiro-Bicudo LA, Muenke M.
    Hum Mutat; 2018 Oct 15; 39(10):1416-1427. PubMed ID: 29992659
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  • 28. Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.
    Heyne GW, Everson JL, Ansen-Wilson LJ, Melberg CG, Fink DM, Parins KF, Doroodchi P, Ulschmid CM, Lipinski RJ.
    Dis Model Mech; 2016 Nov 01; 9(11):1307-1315. PubMed ID: 27585885
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  • 29. Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
    Hehr U, Gross C, Diebold U, Wahl D, Beudt U, Heidemann P, Hehr A, Mueller D.
    Eur J Pediatr; 2004 Jul 01; 163(7):347-52. PubMed ID: 15107988
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  • 30. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.
    Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M.
    Hum Genet; 1997 Aug 01; 100(2):172-81. PubMed ID: 9254845
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  • 33. Holoprosencephaly: recommendations for diagnosis and management.
    Kauvar EF, Muenke M.
    Curr Opin Pediatr; 2010 Dec 01; 22(6):687-95. PubMed ID: 20859208
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  • 34. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
    Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M.
    J Med Genet; 2012 Jul 01; 49(7):473-9. PubMed ID: 22791840
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  • 35. A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly.
    Stashinko EE, Clegg NJ, Kammann HA, Sweet VT, Delgado MR, Hahn JS, Levey EB.
    Am J Med Genet A; 2004 Jul 15; 128A(2):114-9. PubMed ID: 15213999
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  • 37. Mutations in holoprosencephaly.
    Wallis D, Muenke M.
    Hum Mutat; 2000 Jul 15; 16(2):99-108. PubMed ID: 10923031
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  • 38. Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q.
    Vance GH, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon-Delvallez N, Butler MG, Palmer CG.
    Am J Med Genet; 1998 Feb 26; 76(1):51-7. PubMed ID: 9508065
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  • 39. 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 26; 24(1):43-51. PubMed ID: 15221788
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  • 40. Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.
    Petryk A, Graf D, Marcucio R.
    Wiley Interdiscip Rev Dev Biol; 2015 Jul 26; 4(1):17-32. PubMed ID: 25339593
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