Aughton D - Search Results

1

Large duplication in MTM1 associated with myotubular myopathy.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. Amburgey K, et al. Among authors: aughton d. Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28. Neuromuscul Disord. 2013. PMID: 23273872 Free PMC article.

2

Familial medial telangiectatic nevus: variant of nevus flammeus--port-wine stain.

Pasyk KA, Wlodarczyk SR, Jakobczak MM, Kurek M, Aughton DJ. Pasyk KA, et al. Among authors: aughton dj. Plast Reconstr Surg. 1993 May;91(6):1032-41. doi: 10.1097/00006534-199305000-00010. Plast Reconstr Surg. 1993. PMID: 8479968

3

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.

Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM. Aughton DJ, et al. Am J Med Genet A. 2003 Jan 30;116A(3):255-60. doi: 10.1002/ajmg.a.10852. Am J Med Genet A. 2003. PMID: 12503102

4

Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.

Micale MA, Embrey B 4th, Macknis JK, Harper CE, Aughton DJ. Micale MA, et al. Among authors: aughton dj. Eur J Med Genet. 2016 Dec;59(12):618-623. doi: 10.1016/j.ejmg.2016.10.010. Epub 2016 Oct 27. Eur J Med Genet. 2016. PMID: 27794475

5

Balanced reciprocal translocation mosaicism associated with an abnormal phenotype.

Aughton DJ, AlSaadi AA, Canady AI, Lucas BM. Aughton DJ, et al. Am J Med Genet. 1993 Mar 15;45(6):721-4. doi: 10.1002/ajmg.1320450612. Am J Med Genet. 1993. PMID: 8456851

6

Single maxillary central incisor in a girl with del(18p) syndrome.

Aughton DJ, AlSaadi AA, Transue DJ. Aughton DJ, et al. J Med Genet. 1991 Aug;28(8):530-2. doi: 10.1136/jmg.28.8.530. J Med Genet. 1991. PMID: 1920368 Free PMC article.

7

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

Aughton DJ, Cassidy SB, Whiteman DA, Delach JA, Guttmacher AE. Aughton DJ, et al. Am J Med Genet. 1991 Sep 15;40(4):440-3. doi: 10.1002/ajmg.1320400412. Am J Med Genet. 1991. PMID: 1746608

8

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.

Aughton DJ, AlSaadi AA, Johnson JA, Transue DJ, Trock GL. Aughton DJ, et al. Am J Med Genet. 1993 Apr 15;46(2):159-64. doi: 10.1002/ajmg.1320460212. Am J Med Genet. 1993. PMID: 7683452 Review.

9

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Rosenberg MJ, et al. Among authors: aughton d. Hum Genet. 2001 Sep;109(3):311-8. doi: 10.1007/s004390100559. Hum Genet. 2001. PMID: 11702212

10

Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents.

Aughton DJ. Aughton DJ. Am J Med Genet. 1990 Oct;37(2):178-81. doi: 10.1002/ajmg.1320370204. Am J Med Genet. 1990. PMID: 2248283 No abstract available.

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