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Quoted phrase not found in phrase index: "4p partial monosomy syndrome"
Page 1
Glucocorticoid receptor gene mutations confer glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia.
Tamai M, Kasai S, Akahane K, Thu TN, Kagami K, Komatsu C, Abe M, Watanabe A, Goi K, Miyake K, Inaba T, Takita J, Goto H, Minegishi M, Iwamoto S, Sugita K, Inukai T. Tamai M, et al. J Steroid Biochem Mol Biol. 2022 Apr;218:106068. doi: 10.1016/j.jsbmb.2022.106068. Epub 2022 Feb 4. J Steroid Biochem Mol Biol. 2022. PMID: 35124168 Free article.
Moreover, associations of somatic mutations of the CREB-binding protein (CREBBP) and Wolf-Hirschhorn syndrome candidate 1 (WHSC1) genes with the GC-resistance of ALL have been suggested. ...
Moreover, associations of somatic mutations of the CREB-binding protein (CREBBP) and Wolf-Hirschhorn syndrome candidate …
WHSC1/NSD2 regulates immune infiltration in prostate cancer.
Want MY, Tsuji T, Singh PK, Thorne JL, Matsuzaki J, Karasik E, Gillard B, Cortes Gomez E, Koya RC, Lugade A, Odunsi K, Battaglia S. Want MY, et al. J Immunother Cancer. 2021 Feb;9(2):e001374. doi: 10.1136/jitc-2020-001374. J Immunother Cancer. 2021. PMID: 33589522 Free PMC article.
Tumor-resident immune cells have been detected in the prostate, but the regulatory mechanisms that govern tumor infiltration are still poorly understood. To address this gap, we investigated the role of Wolf-Hirschhorn syndrome candidate 1 (WHSC1), a histone …
Tumor-resident immune cells have been detected in the prostate, but the regulatory mechanisms that govern tumor infiltration are still poorl …
The NSD family of protein methyltransferases in human cancer.
Vougiouklakis T, Hamamoto R, Nakamura Y, Saloura V. Vougiouklakis T, et al. Epigenomics. 2015 Aug;7(5):863-74. doi: 10.2217/epi.15.32. Epub 2015 May 5. Epigenomics. 2015. PMID: 25942451 Review.
The NSD family of protein lysine methyltransferases consists of NSD1, NSD2/WHSC1/MMSET and NSD3/WHSC1L1. NSD2 haploinsufficiency causes Wolf-Hirschhorn syndrome, while NSD1 mutations lead to the Sotos syndrome. ...
The NSD family of protein lysine methyltransferases consists of NSD1, NSD2/WHSC1/MMSET and NSD3/WHSC1L1. NSD2 haploinsufficiency causes W …
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G. Gatto A, et al. Am J Med Genet A. 2018 Feb;176(2):409-414. doi: 10.1002/ajmg.a.38554. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193639
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). ...
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16 …
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
Hu X, Wu D, Li Y, Wei L, Li X, Qin M, Li H, Li M, Chen S, Gong C, Shen Y. Hu X, et al. BMC Med Genomics. 2020 Dec 4;13(1):181. doi: 10.1186/s12920-020-00831-9. BMC Med Genomics. 2020. PMID: 33276791 Free PMC article.
BACKGROUND: Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. ...Recently, NSD2 gene located within the 165 kb Wolf-Hirschhorn syndrome critical region was identified as the key causal gene resp …
BACKGROUND: Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. ...Recently, …
Epilepsy in Wolf-Hirschhorn syndrome (4p-).
Kagitani-Shimono K, Imai K, Otani K, Kamio N, Okinaga T, Toribe Y, Suzuki Y, Ozono K. Kagitani-Shimono K, et al. Epilepsia. 2005 Jan;46(1):150-5. doi: 10.1111/j.0013-9580.2005.02804.x. Epilepsia. 2005. PMID: 15660782 Free article.
PURPOSE: We investigated the evolution of epilepsy, seizure types, and effective drugs in Wolf-Hirschhorn syndrome, which is a malformation syndrome often with refractory seizures and status epilepticus. ...We propose that sodium bromide should be used …
PURPOSE: We investigated the evolution of epilepsy, seizure types, and effective drugs in Wolf-Hirschhorn syndrome, whi …
Efficacy of Antiseizure Medications in Wolf-Hirschhorn Syndrome.
Horiguchi A, Koichihara R, Kikuchi K, Nonoyama H, Daida A, Oba D, Hirata Y, Matsuura R, Ohashi H, Hamano SI. Horiguchi A, et al. Neuropediatrics. 2023 Oct;54(5):339-343. doi: 10.1055/a-2077-1988. Epub 2023 Apr 19. Neuropediatrics. 2023. PMID: 37075791
Wolf-Hirschhorn syndrome (WHS) is caused by deletion of the terminal region of chromosome 4 short arm and is frequently associated with intractable epilepsy. This article evaluates the clinical features of epileptic seizures in WHS and the therapeutic …
Wolf-Hirschhorn syndrome (WHS) is caused by deletion of the terminal region of chromosome 4 short arm and is frequently …
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.
Valente KD, Freitas A, Fiore LA, Kim CA. Valente KD, et al. Brain Dev. 2003 Jun;25(4):283-7. doi: 10.1016/s0387-7604(02)00223-1. Brain Dev. 2003. PMID: 12767462 Review.
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder caused by a deletion of the short arm of chromosome 4. ...Although fascinating, this theory is simplistic, since patients with Angelman syndrome without GABA deletion may present epilepsy and EEG abn …
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder caused by a deletion of the short arm of chromosome 4. ...Although …
Genetic disease and intellectual disability as contraindications to transplant listing in the United States: A survey of heart, kidney, liver, and lung transplant programs.
Wall A, Lee GH, Maldonado J, Magnus D. Wall A, et al. Pediatr Transplant. 2020 Nov;24(7):e13837. doi: 10.1111/petr.13837. Epub 2020 Sep 30. Pediatr Transplant. 2020. PMID: 32997378

A minority of programs had formal listing guidelines for any condition considered (Down Syndrome, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, DiGeorge Syndrome, and Wolf Hirschhorn Syndrome; and mild [IQ < 70] and severe [IQ <

…
A minority of programs had formal listing guidelines for any condition considered (Down Syndrome, Duchenne Muscular Dystrophy, Becker …
Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing.
Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y. Zhu X, et al. Prenat Diagn. 2016 Apr;36(4):321-7. doi: 10.1002/pd.4782. Epub 2016 Mar 8. Prenat Diagn. 2016. PMID: 26833920 Clinical Trial.
In six of 73 fetuses (8.2%) with an isolated CHD, CMA identified two cases of DiGeorge syndrome, and one case each of 1q21.1 microdeletion, 16p11.2 microdeletion and Angelman/Prader Willi syndromes, and 22q11.21 microduplication syndrome. In 12 of 42 fetuses (28.6%) …
In six of 73 fetuses (8.2%) with an isolated CHD, CMA identified two cases of DiGeorge syndrome, and one case each of 1q21.1 microdel …
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