Grossfeld P - Search Results

1

Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome.

Herrick NL, Lamberti J, Grossfeld P, Murthy R. Herrick NL, et al. Among authors: grossfeld p. World J Pediatr Congenit Heart Surg. 2021 May;12(3):421-424. doi: 10.1177/2150135118822678. Epub 2019 May 22. World J Pediatr Congenit Heart Surg. 2021. PMID: 31117916

2

Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV.

Murthy R, Herrick NL, El-Said H, Grossfeld P, Moore J, Lamberti JJ. Murthy R, et al. Among authors: grossfeld p. World J Pediatr Congenit Heart Surg. 2020 Jul;11(4):NP182-NP185. doi: 10.1177/2150135118769418. Epub 2018 Oct 8. World J Pediatr Congenit Heart Surg. 2020. PMID: 30296907

3

Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation.

Herrick N, Davis C, Vargas L, Dietz H, Grossfeld P. Herrick N, et al. Among authors: grossfeld p. Med Sci Sports Exerc. 2017 Jul;49(7):1293-1296. doi: 10.1249/MSS.0000000000001236. Med Sci Sports Exerc. 2017. PMID: 28240702 Free PMC article.

4

Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations.

Grossfeld P. Grossfeld P. Am J Med Genet A. 2017 Mar;173(3):667-670. doi: 10.1002/ajmg.a.38032. Am J Med Genet A. 2017. PMID: 28211970 Review.

5

Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.

Ye M, Hamzeh R, Geddis A, Varki N, Perryman MB, Grossfeld P. Ye M, et al. Among authors: grossfeld p. Am J Med Genet A. 2009 Jul;149A(7):1438-43. doi: 10.1002/ajmg.a.32913. Am J Med Genet A. 2009. PMID: 19533782

6

Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.

Akshoomoff N, Mattson SN, Grossfeld PD. Akshoomoff N, et al. Genet Med. 2015 Feb;17(2):143-8. doi: 10.1038/gim.2014.86. Epub 2014 Jul 24. Genet Med. 2015. PMID: 25058499 Free article.

7

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.

Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, Ivy D, Perryman MB, Garrett-Sinha LA, Grossfeld P. Ye M, et al. Among authors: grossfeld p. Hum Mol Genet. 2010 Feb 15;19(4):648-56. doi: 10.1093/hmg/ddp532. Epub 2009 Nov 26. Hum Mol Genet. 2010. PMID: 19942620 Free PMC article.

8

Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome.

Miao Y, Tian L, Martin M, Paige SL, Galdos FX, Li J, Klein A, Zhang H, Ma N, Wei Y, Stewart M, Lee S, Moonen JR, Zhang B, Grossfeld P, Mital S, Chitayat D, Wu JC, Rabinovitch M, Nelson TJ, Nie S, Wu SM, Gu M. Miao Y, et al. Among authors: grossfeld p. Cell Stem Cell. 2020 Oct 1;27(4):574-589.e8. doi: 10.1016/j.stem.2020.07.015. Epub 2020 Aug 17. Cell Stem Cell. 2020. PMID: 32810435 Free PMC article.

9

Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.

Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, Printz B, Shiryaev SA, Grossfeld P. Tootleman E, et al. Among authors: grossfeld p. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a004010. doi: 10.1101/mcs.a004010. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 31160359 Free PMC article.

10

Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction.

Wang L, Lin L, Qi H, Chen J, Grossfeld P. Wang L, et al. Among authors: grossfeld p. Circ Res. 2022 Aug 19;131(5):371-387. doi: 10.1161/CIRCRESAHA.121.319955. Epub 2022 Jul 27. Circ Res. 2022. PMID: 35894043 Free PMC article.

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