Chudley AE - Search Results

1

SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.

Lemire EG, Hildes-Ripstein GE, Reed MH, Chudley AE. Lemire EG, et al. Among authors: chudley ae. Am J Med Genet. 1998 Jan 23;75(3):256-60. doi: 10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9475592

2

New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.

Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. Marles SL, et al. Among authors: chudley ae. Am J Med Genet. 1992 Apr 1;42(6):793-9. doi: 10.1002/ajmg.1320420609. Am J Med Genet. 1992. PMID: 1554017

3

Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases.

Chudley AE, Kovnats S, Ray M. Chudley AE, et al. Am J Med Genet. 1992 Jun 1;43(3):535-8. doi: 10.1002/ajmg.1320430307. Am J Med Genet. 1992. PMID: 1605245 Review.

4

Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons.

Kirkilionis AJ, Chudley AE, Greenberg CR, Yan DL, McGillivray B, Hamerton JL. Kirkilionis AJ, et al. Among authors: chudley ae. Am J Med Genet. 1992 Jun 1;43(3):588-91. doi: 10.1002/ajmg.1320430316. Am J Med Genet. 1992. PMID: 1605253

5

Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes.

Kirkilionis AJ, Chudley AE, Gregory CA, Hamerton JL. Kirkilionis AJ, et al. Among authors: chudley ae. Am J Med Genet. 1991 Sep 15;40(4):454-9. doi: 10.1002/ajmg.1320400416. Am J Med Genet. 1991. PMID: 1684091

6

Spondylometepiphyseal dysplasia congenita, Strudwick type.

Shebib SM, Chudley AE, Reed MH. Shebib SM, et al. Among authors: chudley ae. Pediatr Radiol. 1991;21(4):298-300. doi: 10.1007/BF02018630. Pediatr Radiol. 1991. PMID: 1870932

7

Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report.

Shebib SM, Reed MH, Shuckett EP, Cross HG, Perry JB, Chudley AE. Shebib SM, et al. Among authors: chudley ae. Am J Med Genet. 1991 Jul 1;40(1):88-93. doi: 10.1002/ajmg.1320400118. Am J Med Genet. 1991. PMID: 1887855

8

Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR.

Gregory CA, Kirkilionis AJ, Greenberg CR, Chudley AE, Hamerton JL. Gregory CA, et al. Among authors: chudley ae. Am J Med Genet. 1990 Apr;35(4):536-45. doi: 10.1002/ajmg.1320350420. Am J Med Genet. 1990. PMID: 1970703

9

Short-term memory and cognitive variability in adult fragile X females.

de von Flindt R, Bybel B, Chudley AE, Lopes F. de von Flindt R, et al. Among authors: chudley ae. Am J Med Genet. 1991 Feb-Mar;38(2-3):488-92. doi: 10.1002/ajmg.1320380269. Am J Med Genet. 1991. PMID: 2018091

10

Floating-Harbor syndrome and celiac disease.

Chudley AE, Moroz SP. Chudley AE, et al. Am J Med Genet. 1991 Mar 15;38(4):562-4. doi: 10.1002/ajmg.1320380413. Am J Med Genet. 1991. PMID: 2063899

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