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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

184 related items for PubMed ID: 26529631

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  • 4. Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
    Bae GU, Domené S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS.
    Am J Hum Genet; 2011 Aug 12; 89(2):231-40. PubMed ID: 21802063
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  • 5. Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
    França MM, Jorge AA, Carvalho LR, Costalonga EF, Vasques GA, Leite CC, Mendonca BB, Arnhold IJ.
    J Clin Endocrinol Metab; 2010 Nov 12; 95(11):E384-91. PubMed ID: 20685856
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  • 6. Pituitary stalk interruption syndrome.
    Voutetakis A.
    Handb Clin Neurol; 2021 Nov 12; 181():9-27. PubMed ID: 34238482
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  • 7. Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.
    Hong M, Krauss RS.
    PLoS One; 2013 Nov 12; 8(11):e79269. PubMed ID: 24244464
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  • 9. Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
    Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K.
    PLoS One; 2020 Nov 12; 15(12):e0242358. PubMed ID: 33270637
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  • 13. Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.
    Berkun L, Slae M, Mor-Shaked H, Koplewitz B, Eventov-Friedman S, Harel T.
    Am J Med Genet A; 2019 Dec 12; 179(12):2454-2458. PubMed ID: 31502381
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  • 14. A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome.
    Liu Z, Chen X.
    J Clin Res Pediatr Endocrinol; 2020 Jun 03; 12(2):212-217. PubMed ID: 31448886
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  • 16. Cdon mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly.
    Hong M, Christ A, Christa A, Willnow TE, Krauss RS.
    Elife; 2020 Sep 02; 9():. PubMed ID: 32876567
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