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Holoprosencephaly in an 8.5-week triploidy gestation.
Solomon BD, Potocki L, Oyer CE, Muenke M. Solomon BD, et al. Among authors: potocki l. Clin Dysmorphol. 2009 Jul;18(3):166-167. doi: 10.1097/MCD.0b013e32832a9e90. Clin Dysmorphol. 2009. PMID: 19357506 Free PMC article. No abstract available.
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2).
Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Greenberg F, et al. Among authors: potocki l. Am J Med Genet. 1996 Mar 29;62(3):247-54. doi: 10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8882782
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. McCormack WM Jr, et al. Among authors: potocki l. Am J Med Genet. 2002 Nov 1;112(4):384-9. doi: 10.1002/ajmg.10659. Am J Med Genet. 2002. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):384-9. PMID: 12376941 Corrected and republished.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Ravenscroft TA, et al. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113007 Free PMC article.
229 results