Phelan MC - Search Results

1

Autism and maternally derived aberrations of chromosome 15q.

Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. Schroer RJ, et al. Among authors: phelan mc. Am J Med Genet. 1998 Apr 1;76(4):327-36. doi: 10.1002/(sici)1096-8628(19980401)76:4<327::aid-ajmg8>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9545097

2

Paracentric inversion of chromosome 19 in three generations.

Phelan MC, Schroer RJ, Krug EF. Phelan MC, et al. Am J Med Genet. 1989 Dec;34(4):525-7. doi: 10.1002/ajmg.1320340414. Am J Med Genet. 1989. PMID: 2624262

3

Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region.

Michaelis RC, Skinner SA, Lethco BA, Simensen RJ, Donlon TA, Tarleton J, Phelan MC. Michaelis RC, et al. Among authors: phelan mc. Am J Med Genet. 1995 Jan 2;55(1):120-6. doi: 10.1002/ajmg.1320550131. Am J Med Genet. 1995. PMID: 7702085

4

Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop.

Phelan MC, Stevenson RE, Anderson EV Jr. Phelan MC, et al. Am J Med Genet. 1993 May 15;46(3):304-8. doi: 10.1002/ajmg.1320460313. Am J Med Genet. 1993. PMID: 8488876

5

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?

Michaelis RC, Skinner SA, Deason R, Skinner C, Moore CL, Phelan MC. Michaelis RC, et al. Among authors: phelan mc. Am J Med Genet. 1997 Aug 22;71(3):298-304. doi: 10.1002/(sici)1096-8628(19970822)71:3<298::aid-ajmg10>3.0.co;2-f. Am J Med Genet. 1997. PMID: 9268100 Review.

6

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.

Michaelis RC, Velagaleti GV, Jones C, Pivnick EK, Phelan MC, Boyd E, Tarleton J, Wilroy RS, Tunnacliffe A, Tharapel AT. Michaelis RC, et al. Among authors: phelan mc. Am J Med Genet. 1998 Mar 19;76(3):222-8. Am J Med Genet. 1998. PMID: 9508241

7

Velocardiofacial syndrome in an unexplained XX male.

Phelan MC, Rogers RC, Crawford EC, Brown LG, Page DC. Phelan MC, et al. Am J Med Genet A. 2003 Jan 1;116A(1):77-9. doi: 10.1002/ajmg.a.10833. Am J Med Genet A. 2003. PMID: 12476456

8

Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21----q22.

Schwartz CE, Stanislovitis P, Phelan MC, Klinger K, Taylor HA, Stevenson RE. Schwartz CE, et al. Among authors: phelan mc. Cytogenet Cell Genet. 1991;56(3-4):152-3. doi: 10.1159/000133073. Cytogenet Cell Genet. 1991. PMID: 2055109

9

Fragile X syndrome and neoplasia.

Phelan MC, Stevenson RE, Collins JL, Trent HE 3rd. Phelan MC, et al. Am J Med Genet. 1988 May-Jun;30(1-2):77-82. doi: 10.1002/ajmg.1320300106. Am J Med Genet. 1988. PMID: 2845782

10

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Phelan MC, Morton CC, Stevenson RE, Tanzi RE, Stewart GD, Watkins PC, Gusella JF, Amos JA. Phelan MC, et al. Am J Hum Genet. 1988 Oct;43(4):511-9. Am J Hum Genet. 1988. PMID: 2902789 Free PMC article.

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