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Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. Verloes A, et al. Among authors: grange dk. Am J Med Genet. 2000 Feb 28;90(5):407-22. doi: 10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>;2-d. Am J Med Genet. 2000. PMID: 10706363
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: grange dk. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
Gu J, Sreenath Nagamani SC, Hopwood VL, Sanchez B, Saeidinejad Y, Ou Z, Peacock S, Grange DK, Stankiewicz P, Cheung SW. Gu J, et al. Among authors: grange dk. Am J Med Genet A. 2011 Oct;155A(10):2589-92. doi: 10.1002/ajmg.a.34185. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910221 No abstract available.
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M. Bear KA, et al. Among authors: grange dk. J Med Genet. 2014 Jun;51(6):413-8. doi: 10.1136/jmedgenet-2013-102249. Epub 2014 Apr 17. J Med Genet. 2014. PMID: 24744436 Free PMC article.
142 results