Grossfeld PD - Search Results

1

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.

Nakamura T, Arima-Yoshida F, Sakaue F, Nasu-Nishimura Y, Takeda Y, Matsuura K, Akshoomoff N, Mattson SN, Grossfeld PD, Manabe T, Akiyama T. Nakamura T, et al. Among authors: grossfeld pd. Nat Commun. 2016 Mar 16;7:10861. doi: 10.1038/ncomms10861. Nat Commun. 2016. PMID: 26979507 Free PMC article.

2

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. Among authors: grossfeld pd. 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.

3

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.

Favier R, Akshoomoff N, Mattson S, Grossfeld P. Favier R, et al. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):239-50. doi: 10.1002/ajmg.c.31448. Epub 2015 Aug 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 26285164 Review.

4

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. 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.

5

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).

Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD. Coldren CD, et al. Among authors: grossfeld pd. Neurogenetics. 2009 Apr;10(2):89-95. doi: 10.1007/s10048-008-0157-x. Epub 2008 Oct 15. Neurogenetics. 2009. PMID: 18855024 Free PMC article.

6

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.

7

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. 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

8

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. 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.

9

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.

Ye M, Xu L, Fu M, Chen D, Mattina T, Zufardi O, Rossi E, Bush KT, Nigam SK, Grossfeld P. Ye M, et al. Am J Med Genet A. 2019 Jan;179(1):71-77. doi: 10.1002/ajmg.a.40481. Epub 2018 Nov 13. Am J Med Genet A. 2019. PMID: 30422383

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. 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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