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Journal Abstract Search

440 related items for PubMed ID: 25339593

  • 21. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
    Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M.
    Hum Mol Genet; 1999 Dec; 8(13):2479-88. PubMed ID: 10556296
    [Abstract] [Full Text] [Related]

  • 22. Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
    Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V.
    Hum Mutat; 2016 Dec; 37(12):1329-1339. PubMed ID: 27363716
    [Abstract] [Full Text] [Related]

  • 23. Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).
    Mercier S, Dubourg C, Belleguic M, Pasquier L, Loget P, Lucas J, Bendavid C, Odent S.
    Am J Med Genet C Semin Med Genet; 2010 Feb 15; 154C(1):191-6. PubMed ID: 20104616
    [Abstract] [Full Text] [Related]

  • 24. Mutations in holoprosencephaly.
    Wallis D, Muenke M.
    Hum Mutat; 2000 Feb 15; 16(2):99-108. PubMed ID: 10923031
    [Abstract] [Full Text] [Related]

  • 25. Holoprosencephaly in the genomics era.
    Roessler E, Hu P, Muenke M.
    Am J Med Genet C Semin Med Genet; 2018 Jun 15; 178(2):165-174. PubMed ID: 29770992
    [Abstract] [Full Text] [Related]

  • 26. Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.
    Zhang W, Hong M, Bae GU, Kang JS, Krauss RS.
    Dis Model Mech; 2011 May 15; 4(3):368-80. PubMed ID: 21183473
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  • 27.
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  • 28. Holoprosencephaly: from Homer to Hedgehog.
    Ming JE, Muenke M.
    Clin Genet; 1998 Mar 15; 53(3):155-63. PubMed ID: 9630065
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  • 30. Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly.
    Klingensmith J, Matsui M, Yang YP, Anderson RM.
    Am J Med Genet C Semin Med Genet; 2010 Feb 15; 154C(1):43-51. PubMed ID: 20104603
    [Abstract] [Full Text] [Related]

  • 31. BOC is a modifier gene in holoprosencephaly.
    Hong M, Srivastava K, Kim S, Allen BL, Leahy DJ, Hu P, Roessler E, Krauss RS, Muenke M.
    Hum Mutat; 2017 Nov 15; 38(11):1464-1470. PubMed ID: 28677295
    [Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
    Paulo SS, Fernandes-Rosa FL, Turatti W, Coeli-Lacchini FB, Martinelli CE, Nakiri GS, Moreira AC, Santos AC, de Castro M, Antonini SR.
    Clin Endocrinol (Oxf); 2015 Apr 15; 82(4):562-9. PubMed ID: 25056824
    [Abstract] [Full Text] [Related]

  • 34. Molecular genetics of holoprosencephaly.
    Nanni L, Schelper RL, Muenke MT.
    Front Biosci; 2000 Mar 01; 5():D334-42. PubMed ID: 10704430
    [Abstract] [Full Text] [Related]

  • 35. 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
    [Abstract] [Full Text] [Related]

  • 36. Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon.
    Cole F, Krauss RS.
    Curr Biol; 2003 Mar 04; 13(5):411-5. PubMed ID: 12620190
    [Abstract] [Full Text] [Related]

  • 37. Noggin null allele mice exhibit a microform of holoprosencephaly.
    Lana-Elola E, Tylzanowski P, Takatalo M, Alakurtti K, Veistinen L, Mitsiadis TA, Graf D, Rice R, Luyten FP, Rice DP.
    Hum Mol Genet; 2011 Oct 15; 20(20):4005-15. PubMed ID: 21821669
    [Abstract] [Full Text] [Related]

  • 38. Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.
    Bertolacini CD, Richieri-Costa A, Ribeiro-Bicudo LA.
    Brain Dev; 2010 Mar 15; 32(3):217-22. PubMed ID: 19398181
    [Abstract] [Full Text] [Related]

  • 39. Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection.
    Yamada S, Uwabe C, Fujii S, Shiota K.
    Birth Defects Res A Clin Mol Teratol; 2004 Aug 15; 70(8):495-508. PubMed ID: 15329827
    [Abstract] [Full Text] [Related]

  • 40. ZIC2 in Holoprosencephaly.
    Barratt KS, Arkell RM.
    Adv Exp Med Biol; 2018 Aug 15; 1046():269-299. PubMed ID: 29442327
    [Abstract] [Full Text] [Related]

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