Johnson D - Search Results

1

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO. Hurst JA, et al. Among authors: johnson d. Eur J Hum Genet. 2011 Jul;19(7):757-62. doi: 10.1038/ejhg.2011.13. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326280 Free PMC article.

2

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njølstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO. Johnson D, et al. Am J Hum Genet. 1998 Nov;63(5):1282-93. doi: 10.1086/302122. Am J Hum Genet. 1998. PMID: 9792856 Free PMC article.

3

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO. Oldridge M, et al. Among authors: johnson d. Am J Hum Genet. 1999 Feb;64(2):446-61. doi: 10.1086/302245. Am J Hum Genet. 1999. PMID: 9973282 Free PMC article.

4

Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for twist in suture initiation and biogenesis.

Johnson D, Iseki S, Wilkie AO, Morriss-Kay GM. Johnson D, et al. Mech Dev. 2000 Mar 1;91(1-2):341-5. doi: 10.1016/s0925-4773(99)00278-6. Mech Dev. 2000. PMID: 10704861 Free article.

5

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Glaser RL, et al. Among authors: johnson d. Am J Hum Genet. 2000 Mar;66(3):768-77. doi: 10.1086/302831. Am J Hum Genet. 2000. PMID: 10712195 Free PMC article.

6

A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?

Johnson D, Wall SA, Mann S, Wilkie AO. Johnson D, et al. Eur J Hum Genet. 2000 Aug;8(8):571-7. doi: 10.1038/sj.ejhg.5200499. Eur J Hum Genet. 2000. PMID: 10951518

7

Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2.

Johnson D, Wilkie AO. Johnson D, et al. J Craniofac Genet Dev Biol. 2000 Apr-Jun;20(2):109-12. J Craniofac Genet Dev Biol. 2000. PMID: 11100741 No abstract available.

8

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. Kan SH, et al. Among authors: johnson d. Am J Hum Genet. 2002 Feb;70(2):472-86. doi: 10.1086/338758. Epub 2002 Jan 4. Am J Hum Genet. 2002. PMID: 11781872 Free PMC article.

9

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO. Johnson D, et al. Am J Hum Genet. 2003 Apr;72(4):984-97. doi: 10.1086/374721. Epub 2003 Mar 14. Am J Hum Genet. 2003. PMID: 12649808 Free PMC article.

10

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

Kan SH, Johnson D, Giele H, Wilkie AO. Kan SH, et al. Among authors: johnson d. Am J Med Genet A. 2003 Aug 15;121A(1):69-74. doi: 10.1002/ajmg.a.20103. Am J Med Genet A. 2003. PMID: 12900906

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