K08 HD053476/HD/NICHD NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2009	5
2010	3
2011	2
2012	1
2013	1
2024	0

1

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.

2

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.

LopezJimenez N, Gerber S, Popovici V, Mirza S, Copren K, Ta L, Shaw GM, Trueb B, Slavotinek AM. LopezJimenez N, et al. Hum Genet. 2010 Mar;127(3):325-36. doi: 10.1007/s00439-009-0777-8. Epub 2009 Dec 19. Hum Genet. 2010. PMID: 20024584 Free PMC article.

3

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

Slavotinek A, Crawford H, Golabi M, Tao C, Perry H, Oberoi S, Vargervik K, Friez M. Slavotinek A, et al. Am J Med Genet A. 2009 Aug;149A(8):1814-7. doi: 10.1002/ajmg.a.32947. Am J Med Genet A. 2009. PMID: 19610084 Free PMC article. No abstract available.

4

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. Slavotinek AM, et al. Hum Mutat. 2012 Feb;33(2):364-8. doi: 10.1002/humu.21658. Epub 2011 Dec 27. Hum Mutat. 2012. PMID: 22095910 Free PMC article.

5

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Nathanson J, et al. Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401257 Free PMC article.

6

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A. Chao R, et al. PLoS One. 2010 May 11;5(5):e10565. doi: 10.1371/journal.pone.0010565. PLoS One. 2010. PMID: 20485507 Free PMC article.

7

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

West B, Bove KE, Slavotinek AM. West B, et al. Am J Med Genet A. 2009 Mar;149A(3):539-42. doi: 10.1002/ajmg.a.32682. Am J Med Genet A. 2009. PMID: 19213032 Free PMC article. No abstract available.

8

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.

Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD. Slavotinek AM, et al. Clin Genet. 2009 May;75(5):429-39. doi: 10.1111/j.1399-0004.2009.01182.x. Clin Genet. 2009. PMID: 19459883 Free PMC article.

9

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

Parisi MA, Zayed H, Slavotinek AM, Rutledge JC. Parisi MA, et al. Am J Med Genet A. 2009 Jun;149A(6):1237-40. doi: 10.1002/ajmg.a.32684. Am J Med Genet A. 2009. PMID: 19449404 Free PMC article.

10

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

Zayed H, Chao R, Moshrefi A, Lopezjimenez N, Delaney A, Chen J, Shaw GM, Slavotinek AM. Zayed H, et al. Am J Med Genet A. 2010 Apr;152A(4):916-23. doi: 10.1002/ajmg.a.33341. Am J Med Genet A. 2010. PMID: 20358601 Free PMC article.

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