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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1994 2
1995 1
1996 1
1997 1
2003 2
2004 1
2005 1
2006 2
2007 3
2008 1
2009 4
2013 1
2024 0

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19 results

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Page 1
Functional analysis of mutations in TGIF associated with holoprosencephaly.
El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M. El-Jaick KB, et al. Among authors: ouspenskaia m. Mol Genet Metab. 2007 Jan;90(1):97-111. doi: 10.1016/j.ymgme.2006.07.011. Epub 2006 Sep 7. Mol Genet Metab. 2007. PMID: 16962354 Free PMC article. Review.
Minimal residual leukaemia.
Estrov Z, Ouspenskaia MV, Zipf TF, Tubergen DG, Roberts WM. Estrov Z, et al. Among authors: ouspenskaia mv. Lancet. 1994 Apr 2;343(8901):858-9. doi: 10.1016/s0140-6736(94)92062-1. Lancet. 1994. PMID: 7908106 No abstract available.
An early requirement for maternal FoxH1 during zebrafish gastrulation.
Pei W, Noushmehr H, Costa J, Ouspenskaia MV, Elkahloun AG, Feldman B. Pei W, et al. Among authors: ouspenskaia mv. Dev Biol. 2007 Oct 1;310(1):10-22. doi: 10.1016/j.ydbio.2007.07.011. Epub 2007 Jul 19. Dev Biol. 2007. PMID: 17719025 Free PMC article.
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M. Karkera JD, et al. Among authors: ouspenskaia mv. Am J Hum Genet. 2007 Nov;81(5):987-94. doi: 10.1086/522890. Epub 2007 Sep 28. Am J Hum Genet. 2007. PMID: 17924340 Free PMC article.
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Veléz JI, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M. Roessler E, et al. Among authors: ouspenskaia mv. Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. doi: 10.1016/j.ymgme.2009.05.005. Epub 2009 May 27. Mol Genet Metab. 2009. PMID: 19553149 Free PMC article.
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Among authors: ouspenskaia m. Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090. Hum Mutat. 2009. PMID: 19603532 Free PMC article.
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M. Bendavid C, et al. Among authors: ouspenskaia m. J Med Genet. 2006 Jun;43(6):496-500. doi: 10.1136/jmg.2005.037176. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199538 Free PMC article.
19 results