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Quoted phrase not found in phrase index: "11q partial monosomy syndrome"
Page 1
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. ...Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen sy …
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chro …
Genetics of familial forms of thrombocytopenia.
Balduini CL, Savoia A. Balduini CL, et al. Hum Genet. 2012 Dec;131(12):1821-32. doi: 10.1007/s00439-012-1215-x. Epub 2012 Aug 11. Hum Genet. 2012. PMID: 22886561 Review.
For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping dis …
For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platele …
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.
In 1973, the Danish geneticist Petrea Jacobsen described a three-generation family in which the proband carried a presumed terminal deletion at the end of the long arm of chromosome 11 (11q). ...In this article, we review research describing individual causal …
In 1973, the Danish geneticist Petrea Jacobsen described a three-generation family in which the proband carried a presumed terminal …
Immunodeficiency and Lymphoma in Jacobsen Syndrome.
Nigolian H, Nieke JP, Chevallier M, Stathaki E, Sloan-Béna F, Carminho-Rodrigues MT, Jandus P. Nigolian H, et al. J Investig Allergol Clin Immunol. 2022 Oct 11;32(5):408-409. doi: 10.18176/jiaci.0777. Epub 2022 Jan 14. J Investig Allergol Clin Immunol. 2022. PMID: 35029149 Free article. No abstract available.
Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E, Yirmibeş Karaoğuz M, Kayhan G, Ergün MA, Perçin FE. Tuğ E, et al. Am J Med Genet A. 2014 Jul;164A(7):1770-6. doi: 10.1002/ajmg.a.36495. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677787 Review.
Partial trisomy 11q is a rare syndrome and may be observed due to an intra-chromosomal duplication or an inter-chromosomal insertion. ...Phenotype-genotype correlation will be discussed in view of all the reported pure partial 11q trisomies and …
Partial trisomy 11q is a rare syndrome and may be observed due to an intra-chromosomal duplication or an inter-chromoso …
Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome: A case report and review of the literature.
Chen S, Wang R, Zhang X, Li L, Jiang Y, Liu R, Zhang H. Chen S, et al. Medicine (Baltimore). 2020 Jan;99(1):e18695. doi: 10.1097/MD.0000000000018695. Medicine (Baltimore). 2020. PMID: 31895838 Free PMC article. Review.
RATIONALE: Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diagnosed in infancy and childhood based on clinical examination and hematological and cytogenetic findings. ...The SNP array revealed a 6.118 M …
RATIONALE: Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diag …
The role of ATM mutations and 11q deletions in disease progression in chronic lymphocytic leukemia.
Stankovic T, Skowronska A. Stankovic T, et al. Leuk Lymphoma. 2014 Jun;55(6):1227-39. doi: 10.3109/10428194.2013.829919. Epub 2013 Sep 12. Leuk Lymphoma. 2014. PMID: 23906020 Review.
Abstract ATM gene alteration is a frequent event in pathogenesis of chronic lymphocytic leukemia (CLL) and occurs as monoallelic loss in the form of 11q23 deletion, with and without mutation in the remaining ATM allele. ATM is a principal DNA damage response gene and biall …
Abstract ATM gene alteration is a frequent event in pathogenesis of chronic lymphocytic leukemia (CLL) and occurs as monoallelic loss in the …
Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow.
Yamashita D, Muramatsu H, Narita A, Wakamatsu M, Tsumura Y, Sajiki D, Maemura R, Yamamori A, Imaya M, Narita K, Kataoka S, Taniguchi R, Nishio N, Okuno Y, Fujita N, Koh K, Umeda K, Morihana E, Iwafuchi H, Ito M, Kojima S, Hama A, Takahashi Y. Yamashita D, et al. Haematologica. 2023 Dec 1;108(12):3438-3443. doi: 10.3324/haematol.2022.282513. Haematologica. 2023. PMID: 37317839 Free PMC article. No abstract available.
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.
Serra G, Memo L, Antona V, Corsello G, Favero V, Lago P, Giuffrè M. Serra G, et al. Ital J Pediatr. 2021 Jul 1;47(1):147. doi: 10.1186/s13052-021-01108-2. Ital J Pediatr. 2021. PMID: 34210338 Free PMC article.
INTRODUCTION: In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. ...PATIENTS' PRESE …
INTRODUCTION: In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital he …
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.
Blazina Š, Ihan A, Lovrečić L, Hovnik T. Blazina Š, et al. Am J Med Genet A. 2016 Dec;170(12):3237-3240. doi: 10.1002/ajmg.a.37859. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605496 Review.
In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on immunodeficiency in JS. ...We propose that patients with Jacobsen syndrome need thorough immunological evaluations as T-cell …
In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on …
53 results