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Year Number of Results
1995 1
2011 5
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2014 3
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Page 1
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW. Pastor VB, et al. Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7. Haematologica. 2018. PMID: 29217778 Free PMC article. Clinical Trial.
Genomic studies identified constitutional mutations (p.H880Q, p.R986H, p.R986C and p.V1512M) in the SAMD9L gene on 7q21, with decreased allele frequency in hematopoiesis. The non-random loss of mutated SAMD9L alleles was attained via monosomy 7, deletion 7q, UPD7q, or acqu …
Genomic studies identified constitutional mutations (p.H880Q, p.R986H, p.R986C and p.V1512M) in the SAMD9L gene on 7q21, with decreased alle …
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M, Tanase-Nakao K, Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. Yoshida M, et al. Br J Haematol. 2020 Dec;191(5):835-843. doi: 10.1111/bjh.17006. Epub 2020 Aug 7. Br J Haematol. 2020. PMID: 32770553 Free article. Clinical Trial.
Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications.
Hussain FT, Nguyen EP, Raza S, Knudson R, Pardanani A, Hanson CA, Van Dyke D, Tefferi A. Hussain FT, et al. Am J Hematol. 2012 Jul;87(7):684-6. doi: 10.1002/ajh.23230. Epub 2012 May 6. Am J Hematol. 2012. PMID: 22565657 Free article.
Among 6,565 consecutive abnormal cytogenetic reports at our institution, 3,192 (49%) constituted sole abnormalities, of which 230 (7%) involved chromosome 7: monosomy 7 (n = 98), 7q- (n = 51), der(1;7)(q10;p10) (n = 44), balanced translocations (n = 15), ring …
Among 6,565 consecutive abnormal cytogenetic reports at our institution, 3,192 (49%) constituted sole abnormalities, of which 230 (7%) invol …
Single-cell RNA-seq reveals a distinct transcriptome signature of aneuploid hematopoietic cells.
Zhao X, Gao S, Wu Z, Kajigaya S, Feng X, Liu Q, Townsley DM, Cooper J, Chen J, Keyvanfar K, Fernandez Ibanez MDP, Wang X, Young NS. Zhao X, et al. Blood. 2017 Dec 21;130(25):2762-2773. doi: 10.1182/blood-2017-08-803353. Epub 2017 Oct 13. Blood. 2017. PMID: 29030335 Free PMC article. Clinical Trial.
When we projected patients' single cells onto the map of normal hematopoiesis, diverse patterns were observed, broadly reflecting clinical phenotypes. Patients' monosomy 7 cells showed downregulation of genes involved in immune response and DNA damage checkpoint and apopto …
When we projected patients' single cells onto the map of normal hematopoiesis, diverse patterns were observed, broadly reflecting clinica …
B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7.
Mai K, Chen X, Wang C, Wu S, Yang L, Huang Z, Zhang G, Zhang VW, Wang J, Chen D. Mai K, et al. Immunobiology. 2020 Sep;225(5):152005. doi: 10.1016/j.imbio.2020.152005. Epub 2020 Aug 12. Immunobiology. 2020. PMID: 32962823
We report a case of a 6-month-old female infant with mosaic monosomy 7 who presented with clinical and laboratory evidences of immunodeficiency. The patient had suffered from recurrent respiratory infections since she was born. ...Excepting transient neutropenia, routine b …
We report a case of a 6-month-old female infant with mosaic monosomy 7 who presented with clinical and laboratory evidences of immuno …
35 results