Grange DK - Search Results

1

Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.

Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, Julian S, Lind A. Grange DK, et al. Am J Med Genet A. 2008 Oct 15;146A(20):2589-97. doi: 10.1002/ajmg.a.32503. Am J Med Genet A. 2008. PMID: 18798318

2

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.

Grange DK, Kratz LE, Braverman NE, Kelley RI. Grange DK, et al. Am J Med Genet. 2000 Feb 14;90(4):328-35. doi: 10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10710233

3

Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.

Grange DK, Garcia-Heras J, Kilani RA, Lamp S. Grange DK, et al. Am J Med Genet A. 2005 Sep 1;137A(3):308-12. doi: 10.1002/ajmg.a.30877. Am J Med Genet A. 2005. PMID: 16092120 Review.

4

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

Grange DK, Lorch SM, Cole PL, Singh GK. Grange DK, et al. Am J Med Genet A. 2006 Aug 1;140(15):1673-80. doi: 10.1002/ajmg.a.31348. Am J Med Genet A. 2006. PMID: 16835932

5

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.

6

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE. Zhang B, et al. Among authors: grange dk. Am J Med Genet A. 2016 Mar;170(3):583-93. doi: 10.1002/ajmg.a.37445. Epub 2015 Nov 24. Am J Med Genet A. 2016. PMID: 26601658

7

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. Twigg SRF, et al. Among authors: grange dk. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236920 Free PMC article.

8

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. Gorman KM, et al. Among authors: grange dk. Am J Med Genet A. 2016 Nov;170(11):3048-3050. doi: 10.1002/ajmg.a.37849. Epub 2016 Jul 18. Am J Med Genet A. 2016. PMID: 27427475 Free article. No abstract available.

9

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Baldridge D, et al. Among authors: grange dk. Am J Med Genet A. 2020 May;182(5):1053-1065. doi: 10.1002/ajmg.a.61518. Epub 2020 Feb 21. Am J Med Genet A. 2020. PMID: 32083401 Free PMC article.

10

Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities.

Grange DK, Balfour IC, Chen SC, Wood EG. Grange DK, et al. Am J Med Genet. 1998 Feb 17;75(5):469-80. doi: 10.1002/(sici)1096-8628(19980217)75:5<469::aid-ajmg4>3.0.co;2-i. Am J Med Genet. 1998. PMID: 9489789

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