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Growth hormone deficiency associated in the 18q deletion syndrome.
Ghidoni PD, Hale DE, Cody JD, Gay CT, Thompson NM, McClure EB, Danney MM, Leach RJ, Kaye CI. Ghidoni PD, et al. Among authors: leach rj. Am J Med Genet. 1997 Mar 3;69(1):7-12. doi: 10.1002/(sici)1096-8628(19970303)69:1<7::aid-ajmg2>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9066876
Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency.
Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Cornell JE, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. Gay CT, et al. Among authors: leach rj. Am J Med Genet. 1997 Jul 25;74(4):422-31. doi: 10.1002/(sici)1096-8628(19970725)74:4<422::aid-ajmg14>3.0.co;2-k. Am J Med Genet. 1997. PMID: 9259379
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.
Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI. Cody JD, et al. Among authors: leach rj. Am J Med Genet. 1999 Aug 27;85(5):455-62. doi: 10.1002/(sici)1096-8628(19990827)85:5<455::aid-ajmg5>3.0.co;2-z. Am J Med Genet. 1999. PMID: 10405442
The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions have a …
The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach …
The spectrum of growth abnormalities in children with 18q deletions.
Hale DE, Cody JD, Baillargeon J, Schaub R, Danney MM, Leach RJ. Hale DE, et al. Among authors: leach rj. J Clin Endocrinol Metab. 2000 Dec;85(12):4450-4. doi: 10.1210/jcem.85.12.7016. J Clin Endocrinol Metab. 2000. PMID: 11134092 Clinical Trial.
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia.
Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ. Lehman DM, et al. Among authors: leach rj. Am J Med Genet. 2001 Jun 15;101(2):114-9. doi: 10.1002/ajmg.1330. Am J Med Genet. 2001. PMID: 11391653
248 results