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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

192 related items for PubMed ID: 24550762

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  • 4. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
    Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M.
    Hum Mol Genet; 1999 Sep; 8(9):1683-9. PubMed ID: 10441331
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  • 6. Strong variable clinical presentation in 3 patients with 7q terminal deletion.
    Frints SG, Schrander-Stumpel CT, Schoenmakers EF, Engelen JJ, Reekers AB, Van den Neucker AM, Smeets E, Devlieger H, Fryns JP.
    Genet Couns; 1998 Sep; 9(1):5-14. PubMed ID: 9555580
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    Ramakrishnan S, Das JM.
    ; 2024 01. PubMed ID: 32809696
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  • 10. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
    Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V.
    Genet Med; 2024 Jul; 26(7):101126. PubMed ID: 38529886
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  • 12. Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
    Winter TC, Kennedy AM, Woodward PJ.
    Radiographics; 2015 Jul; 35(1):275-90. PubMed ID: 25590404
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  • 13. Holoprosencephaly: from Homer to Hedgehog.
    Ming JE, Muenke M.
    Clin Genet; 1998 Mar; 53(3):155-63. PubMed ID: 9630065
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  • 16. 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; 127(4):421-40. PubMed ID: 20066439
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  • 18. Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.
    Seppala M, Depew MJ, Martinelli DC, Fan CM, Sharpe PT, Cobourne MT.
    J Clin Invest; 2007 Jun; 117(6):1575-84. PubMed ID: 17525797
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  • 19. 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; 49(7):473-9. PubMed ID: 22791840
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