Bartel FO - Search Results

1

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.

Zarate YA, Dwivedi A, Bartel FO, Corning K, Dupont BR. Zarate YA, et al. Among authors: bartel fo. Am J Med Genet A. 2011 Feb;155A(2):386-91. doi: 10.1002/ajmg.a.33799. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271659

2

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.

Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE. Franek KJ, et al. Am J Med Genet A. 2011 May;155A(5):1109-14. doi: 10.1002/ajmg.a.33833. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484992

3

Clinical utility of the X-chromosome array.

Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Zarate YA, et al. Among authors: bartel fo. Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208842

4

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.

Filho AB, Souza J, Faucz FR, Sotomaior VS, Dupont B, Bartel F, Rodriguez R, Schwartz CE, Skinner C, Alliman S, Raskin S. Filho AB, et al. Am J Med Genet A. 2011 May;155A(5):1152-6. doi: 10.1002/ajmg.a.33942. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21485001

5

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism.

Dwivedi AC, Lyons MJ, Kwiatkowski K, Bartel FO, Friez MJ, Holden KR, Fung ET, DuPont BR. Dwivedi AC, et al. Among authors: bartel fo. Mol Cytogenet. 2014 Dec 4;7(1):93. doi: 10.1186/s13039-014-0093-4. eCollection 2014. Mol Cytogenet. 2014. PMID: 25530805 Free PMC article.

6

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. Armour CM, et al. Among authors: bartel fo. Eur J Hum Genet. 2011 Nov;19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1. Eur J Hum Genet. 2011. PMID: 21629300 Free PMC article.

7

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Hodge JC, et al. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16. Mol Psychiatry. 2014. PMID: 23587880 Free PMC article.

8

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Marom D, Albin A, Schwartz C, Har-Zahav A, Straussberg R, Bartel F, Birk E, Inbar D, Basel-Vanagaite L. Marom D, et al. Am J Med Genet A. 2011 Aug;155A(8):1959-63. doi: 10.1002/ajmg.a.34121. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744492

9

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. Boccuto L, et al. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.

10

Thymomegaly, microsplenia, and defective homeostatic proliferation of peripheral lymphocytes in p51-Ets1 isoform-specific null mice.

Higuchi T, Bartel FO, Masuya M, Deguchi T, Henderson KW, Li R, Muise-Helmericks RC, Kern MJ, Watson DK, Spyropoulos DD. Higuchi T, et al. Among authors: bartel fo. Mol Cell Biol. 2007 May;27(9):3353-66. doi: 10.1128/MCB.01871-06. Epub 2007 Mar 5. Mol Cell Biol. 2007. PMID: 17339335 Free PMC article.

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