CHROMOSOME 18 CLINICAL RESEARCH CENTER

Publications

Preferential loss of the paternal alleles in the 18q- syndrome. Cody JD, Brkanac Z, Pierce JF, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. Am J Med Genet 1997; 69:280-286.

Growth hormone deficiency associated with 18q deletion syndrome. Ghidoni PD, Hale DE, Cody JD, Thompson NM, McClure EB, Gay CT, Danney MM, Leach RJ, Kaye CI. Am J Med Genet 1997; 69:7-12.

Growth hormone insufficiency associated with a deletion of 2 Mb at 18q23. Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ. Am J Med Genet. 1997; 71:420-425.

Magnetic resonance imaging demonstrates incomplete myelination in the 18q- syndrome: Evidence for myelin basic protein haploinsufficiency. Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. Neuropysch Genet. 1997; 74:422-431.

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss. Keppler-Noreuil KM, Caroll AJ, Finley SC, Descartes M, Cody JD, DuPont BR, Leach RJ. Am J Med Genet. 1999; 76:372-378.

Identification of cryptic rearrangements in patients with 18q- deletion syndrome. Brkanac Z, Cody JD, Leach RJ, DuPont BR. Am J Hum Genet 1998; 62:1500-1506.

Congenital anomalies and anthropometry of 42 individuals with deletions of 18q. Cody JD, Ghidoni PD, DuPont B, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub, RL, Leach RJ, Kaye CI. Am J Med Genet 1999; 85:455-462.

Expression patterns in cell lines from individuals with deletions of 18q. Wang Z, Cody JD, Leach RJ, O'Connell P. Gene Human Genetics 1999; 104:467-475.

Haploinsufficiency of the MC4R gene in individuals with deletions of 18q. Cody, JD, Reveles XT, Hale DE, Leach RJ. Hum Genet 1999; 105:424-427.

Chromosome 18p deletion syndrome and dental caries: history in nine cases and five unaffected siblings. Hermesch CT, Cody JT, Cody JD. Special Care in Dentistry 2000; 20:53-44.

The spectrum of growth abnormalities in children with 18q deletions. Hale DE, Cody JD, Baillargeon J, Schaub RL, Danney MM, Leach RJ. J Clin Endocrinol Metab 2000; 85:4450-4454.

Molecular Characterization of 18p deletions: Identification of a breakpoint cluster. Schaub RL, Reveles XT, Baillargeon J, Leach, Cody JD: 2002; Genet Med 4:15-19.

Growth disorders in the chromosome 18 syndromes. Schaub RL, Cody JD, Hale DE (2001): Highlights 9:3-5.

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ. Am J Med Genet 2003 Jul;120A(1):127-135.

Three-pool model of white matter. Lancaster JL, Andrews T, Hardies LJ, Dodd S, Fox PT.J Magn Reson Imaging. 2003 Jan;17(1):1-10.

Precision in phenotyping and genotyping. Cody JD, Hale DE. Am J Med Genet. 2004 Dec 15;131A(3):313.

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization. Kochunov P, Lancaster J, Hardies J, Thompson PM, Woods RP, Cody JD, Hale DE, Laird A, Fox PT. Hum Brain Mapp. 2005 Apr;24(4):325-31.

Myelination in Children with partial deletions of chromosome 18q. Lancaster JL, Cody JD, Andrews T, Hardies LJ, Hale DE, Fox PT. AJNR Am J Neuroradiol. 2005 Mar;26(3):447-54.

Cognitive Ability and Adaptive Behavior Associated with Extent of Deletion in Children with 18q Deletions. Margaret Semrud-Clikeman, PhD, Nora M Thompson, Ph.D, Becky L Schaub, MS, Robin Leach, PhD, Andrea Hester, MA, Daniel E Hale, MD, Jannine D. Cody, PhD. J Int Neuropsych Soc., JINS 11:584-590 (2005).

Growth Hormone Benefits Children with 18q Deletions. Jannine D. Cody, Ph.D., Margaret Semrud-Clikeman, Ph.D., L. Jean Hardies, Ph.D., Jack Lancaster, Ph.D., Patricia D. Ghidoni, M.D., Rebecca L. Schaub, M.S., Nora M. Thompson, Ph.D., Lynda Wells, M.D., John E. Cornell, Ph.D., Tanzy M. Love, M.S. , Peter T. Fox, M.D., Robin J. Leach, Ph.D., Celia I. Kaye, M.D., Ph.D. , Daniel E. Hale, M.D., Am J Med Genet137A:9-15 (2005).

The Spectrum of Thyroid Abnormalities in Individuals with 18q Deletions. Schaub RL, Hale DE, Rose SR, Leach RJ, Cody JD. J Clin Endocrinol Metab. 2005 Jan 25