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Molecular mechanisms of holoprosencephaly.
Wallis DE, Muenke M. Wallis DE, et al. Mol Genet Metab. 1999 Oct;68(2):126-38. doi: 10.1006/mgme.1999.2895. Mol Genet Metab. 1999. PMID: 10527664 Review.
High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
Solomon BD, Pineda-Alvarez DE, Gropman AL, Willis MJ, Hadley DW, Muenke M. Solomon BD, et al. Mol Syndromol. 2012 Sep;3(3):140-142. doi: 10.1159/000341373. Epub 2012 Jul 26. Mol Syndromol. 2012. PMID: 23112757 Free PMC article.
A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.
Arauz RF, Solomon BD, Pineda-Alvarez DE, Gropman AL, Parsons JA, Roessler E, Muenke M. Arauz RF, et al. Mol Syndromol. 2010;1(2):59-66. doi: 10.1159/000302285. Epub 2010 Apr 22. Mol Syndromol. 2010. PMID: 21045958 Free PMC article.
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. Keaton AA, et al. Mol Syndromol. 2010;1(5):211-222. doi: 10.1159/000328203. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22125506 Free PMC article.
Craniosynostosis syndromes: from genes to premature fusion of skull bones.
Hehr U, Muenke M. Hehr U, et al. Mol Genet Metab. 1999 Oct;68(2):139-51. doi: 10.1006/mgme.1999.2915. Mol Genet Metab. 1999. PMID: 10527665 Review. No abstract available.
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M. Karkera JD, et al. Am J Hum Genet. 2007 Nov;81(5):987-94. doi: 10.1086/522890. Epub 2007 Sep 28. Am J Hum Genet. 2007. PMID: 17924340 Free PMC article.
Midline and laterality defects: left and right meet in the middle.
Roessler E, Muenke M. Roessler E, et al. Bioessays. 2001 Oct;23(10):888-900. doi: 10.1002/bies.1130. Bioessays. 2001. PMID: 11598956 Review.
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M. Orenstein N, et al. Clin Genet. 2017 Jun;91(6):913-917. doi: 10.1111/cge.12930. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27891590 Free PMC article.
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. Bamford RN, et al. Nat Genet. 2000 Nov;26(3):365-9. doi: 10.1038/81695. Nat Genet. 2000. PMID: 11062482
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