 Chromosome Deletion
"Chromosome Deletion" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Actual loss of portion of a chromosome.
| Descriptor ID |
D002872
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| MeSH Number(s) |
C23.550.210.050.500.500 G05.355.600.800.180 G05.365.590.029.530.175 G05.365.590.175.050.500.500 G05.365.590.762.180 G05.700.131.500.500
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| Concept/Terms |
Partial Monosomy- Partial Monosomy
- Monosomies, Partial
- Partial Monosomies
- Monosomy, Partial
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Below are MeSH descriptors whose meaning is more general than "Chromosome Deletion".
Below are MeSH descriptors whose meaning is more specific than "Chromosome Deletion".
This graph shows the total number of publications written about "Chromosome Deletion" by people in this website by year, and whether "Chromosome Deletion" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1986 | 1 | 0 | 1 | | 1987 | 0 | 1 | 1 | | 1988 | 0 | 2 | 2 | | 1990 | 2 | 1 | 3 | | 2007 | 1 | 1 | 2 | | 2008 | 0 | 1 | 1 | | 2012 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2017 | 0 | 2 | 2 | | 2018 | 0 | 1 | 1 | | 2019 | 0 | 1 | 1 | | 2020 | 0 | 2 | 2 | | 2021 | 1 | 1 | 2 | | 2022 | 0 | 1 | 1 |
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Below are the most recent publications written about "Chromosome Deletion" by people in Profiles.
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Levy T, Foss-Feig JH, Betancur C, Siper PM, Trelles-Thorne MDP, Halpern D, Frank Y, Lozano R, Layton C, Britvan B, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Srivastava S, Sahin M, Soorya L, Thurm A, Kolevzon A. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Hum Mol Genet. 2022 02 21; 31(4):625-637.
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Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53.
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Mariscal MG, Berry-Kravis E, Buxbaum JD, Ethridge LE, Filip-Dhima R, Foss-Feig JH, Kolevzon A, Modi ME, Mosconi MW, Nelson CA, Powell CM, Siper PM, Soorya L, Thaliath A, Thurm A, Zhang B, Sahin M, Levin AR. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29.
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Gergoudis K, Weinberg A, Templin J, Farmer C, Durkin A, Weissman J, Siper P, Foss-Feig J, Del Pilar Trelles M, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Sahin M, Soorya L, Thurm A, Kolevzon A. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
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Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31.
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Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019; 10:50.
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Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43.
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Soorya L, Leon J, Trelles MP, Thurm A. Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. Clin Neuropsychol. 2018 Aug - Oct; 32(7):1226-1255.
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Li L, Sheng Y, Li W, Hu C, Mittal N, Tohyama K, Seba A, Zhao YY, Ozer H, Zhu T, Qian Z. ß-Catenin Is a Candidate Therapeutic Target for Myeloid Neoplasms with del(5q). Cancer Res. 2017 08 01; 77(15):4116-4126.
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Panageas KS, Reiner AS, Iwamoto FM, Cloughesy TF, Aldape KD, Rivera AL, Eichler AF, Louis DN, Paleologos NA, Fisher BJ, Ashby LS, Cairncross JG, Urgoiti GB, Wen PY, Ligon KL, Schiff D, Robins HI, Rocque BG, Chamberlain MC, Mason WP, Weaver SA, Green RM, Kamar FG, Abrey LE, DeAngelis LM, Jhanwar SC, Rosenblum MK, Lassman AB. Recursive partitioning analysis of prognostic variables in newly diagnosed anaplastic oligodendroglial tumors. Neuro Oncol. 2014 Nov; 16(11):1541-6.
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