Grossfeld P - Search Results

1

Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998.

Gaudray P, Carle GF, Gerhard DS, Gessler M, Mannens MM, Athanasiou M, Bliek J, Calender A, Debelenko LV, Devignes M, Evans GA, Favier R, Forbes S, Gaudray G, Gawin B, Gordon M, Grimmond S, Grossfeld P, Harris J, Hattori M, Hosoda F, Hummerich H, James M, Kalla J, Katsanis N, et al. Gaudray P, et al. Among authors: grossfeld p. Cytogenet Cell Genet. 1999;86(3-4):167-86. doi: 10.1159/000015336. Cytogenet Cell Genet. 1999. PMID: 10575203 No abstract available.

2

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.

Jones C, Müllenbach R, Grossfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F. Jones C, et al. Among authors: grossfeld p. Hum Mol Genet. 2000 May 1;9(8):1201-8. doi: 10.1093/hmg/9.8.1201. Hum Mol Genet. 2000. PMID: 10767345

3

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

Favier R, Akshoomoff N, Mattson S, Grossfeld P. Favier R, et al. Among authors: grossfeld p. 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

The 11q terminal deletion disorder: a prospective study of 110 cases.

Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. Grossfeld PD, et al. Am J Med Genet A. 2004 Aug 15;129A(1):51-61. doi: 10.1002/ajmg.a.30090. Am J Med Genet A. 2004. PMID: 15266616

5

Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia.

Hart A, Melet F, Grossfeld P, Chien K, Jones C, Tunnacliffe A, Favier R, Bernstein A. Hart A, et al. Among authors: grossfeld p. Immunity. 2000 Aug;13(2):167-77. doi: 10.1016/s1074-7613(00)00017-0. Immunity. 2000. PMID: 10981960 Free article.

6

Endocrine abnormalities in patients with Jacobsen (11q-) syndrome.

Haghi M, Dewan A, Jones KL, Reitz R, Jones C, Grossfeld P. Haghi M, et al. Among authors: grossfeld p. Am J Med Genet A. 2004 Aug 15;129A(1):62-3. doi: 10.1002/ajmg.a.30248. Am J Med Genet A. 2004. PMID: 15266617

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

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. Nat Commun. 2016 Mar 16;7:10861. doi: 10.1038/ncomms10861. Nat Commun. 2016. PMID: 26979507 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

Ocular findings in Jacobsen syndrome.

Lee WB, O'Halloran HS, Grossfeld PD, Scher C, Jockin YM, Jones C. Lee WB, et al. J AAPOS. 2004 Apr;8(2):141-5. doi: 10.1016/j.jaapos.2003.09.002. J AAPOS. 2004. PMID: 15088047

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