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Quoted phrase not found in phrase index: "Telomeric Allelic Imbalance Region"
Page 1
Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents.
Birkbak NJ, Wang ZC, Kim JY, Eklund AC, Li Q, Tian R, Bowman-Colin C, Li Y, Greene-Colozzi A, Iglehart JD, Tung N, Ryan PD, Garber JE, Silver DP, Szallasi Z, Richardson AL. Birkbak NJ, et al. Cancer Discov. 2012 Apr;2(4):366-375. doi: 10.1158/2159-8290.CD-11-0206. Epub 2012 Mar 22. Cancer Discov. 2012. PMID: 22576213 Free PMC article.
We sought genomic signatures indicative of defective DNA repair in cell lines and tumors and correlated these signatures to platinum sensitivity. The number of subchromosomal regions with allelic imbalance extending to the telomere (N(tAI)) predicted c …
We sought genomic signatures indicative of defective DNA repair in cell lines and tumors and correlated these signatures to platinum sensiti …
Characterisation of the clinical phenotype in Phelan-McDermid syndrome.
Burdeus-Olavarrieta M, San José-Cáceres A, García-Alcón A, González-Peñas J, Hernández-Jusdado P, Parellada-Redondo M. Burdeus-Olavarrieta M, et al. J Neurodev Disord. 2021 Jul 10;13(1):26. doi: 10.1186/s11689-021-09370-5. J Neurodev Disord. 2021. PMID: 34246244 Free PMC article.
BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). ...It makes the case fo …
BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a …
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T. Vitrac A, et al. Eur J Med Genet. 2023 May;66(5):104732. doi: 10.1016/j.ejmg.2023.104732. Epub 2023 Feb 21. Eur J Med Genet. 2023. PMID: 36822569 Free article. Review.
Here, we review the biological function and potential implication in PMS symptoms of 110 genes located in the 22q13 region, focusing on 35 genes with evidence for association with neurodevelopmental disorders, including 13 genes for epilepsy and 11 genes for microcephaly a …
Here, we review the biological function and potential implication in PMS symptoms of 110 genes located in the 22q13 region, focusing …
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Srikanth S, et al. PLoS One. 2021 Jul 6;16(7):e0253859. doi: 10.1371/journal.pone.0253859. eCollection 2021. PLoS One. 2021. PMID: 34228749 Free PMC article.
The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). ...Data collected were correlated wit …
The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormali …
Deletion of chromosome 15 represents a rare but recurrent chromosomal abnormality in myelocytic malignancies.
Dierlamm J, Schilling G, Michaux L, Hinz K, Murga Penas EM, Seeger D, Hagemeijer A, Hossfeld DK. Dierlamm J, et al. Cancer Genet Cytogenet. 2003 Jul 1;144(1):1-5. doi: 10.1016/s0165-4608(02)00863-4. Cancer Genet Cytogenet. 2003. PMID: 12810248 Review.
Cytogenetic analysis was supplemented by fluorescence in situ hybridization (FISH) using a chromosome 15 specific whole chromosome painting probe and probes hybridizing to the UBE3A gene on 15q11~q13, the PML gene on 15q22, and the telomeric region of 15q. Hereby, a …
Cytogenetic analysis was supplemented by fluorescence in situ hybridization (FISH) using a chromosome 15 specific whole chromosome painting …
Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited.
Jerez A, Gondek LP, Jankowska AM, Makishima H, Przychodzen B, Tiu RV, O'Keefe CL, Mohamedali AM, Batista D, Sekeres MA, McDevitt MA, Mufti GJ, Maciejewski JP. Jerez A, et al. J Clin Oncol. 2012 Apr 20;30(12):1343-9. doi: 10.1200/JCO.2011.36.1824. Epub 2012 Feb 27. J Clin Oncol. 2012. PMID: 22370328 Free PMC article.
Lesions not involving the centromeric or telomeric extremes of 5q are not exclusive to 5q- syndrome but can be associated with other less aggressive forms of MDS. ...CONCLUSION: Our results suggest that the extent of the affected region on 5q determines clinical cha …
Lesions not involving the centromeric or telomeric extremes of 5q are not exclusive to 5q- syndrome but can be associated with other …
Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment.
Ziats CA, Grosvenor LP, Sarasua SM, Thurm AE, Swedo SE, Mahfouz A, Rennert OM, Ziats MN. Ziats CA, et al. PLoS One. 2019 Mar 15;14(3):e0213921. doi: 10.1371/journal.pone.0213921. eCollection 2019. PLoS One. 2019. PMID: 30875393 Free PMC article.
In an effort to better understand the functional landscape of the PMS region during normal neurodevelopment, we assessed RNA-sequencing (RNA-seq) expression data collected from post-mortem brain tissue from developmentally normal subjects over the course of prenatal …
In an effort to better understand the functional landscape of the PMS region during normal neurodevelopment, we assessed RNA-sequenci …
Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome.
Khan OI, Zhou X, Leon J, Kessler R, Gaughan T, D'Souza P, Gropman A, Cohen N, Rennert O, Buckley A, Inati S, Thurm A. Khan OI, et al. Epilepsy Behav. 2018 Mar;80:312-320. doi: 10.1016/j.yebeh.2017.11.034. Epub 2018 Feb 3. Epilepsy Behav. 2018. PMID: 29402632
OBJECTIVE: Phelan-McDermid Syndrome (PMS) is a rare genetic condition associated with loss of function mutations, including deletions, in the chromosome 22q13 region. This PMS phenotype includes intellectual disability, often minimal to absent verbal skills, and other neur …
OBJECTIVE: Phelan-McDermid Syndrome (PMS) is a rare genetic condition associated with loss of function mutations, including deletions, in th …
Loss of heterozygosity as a predictor to map tumor suppressor genes in cancer: molecular basis of its occurrence.
Thiagalingam S, Foy RL, Cheng KH, Lee HJ, Thiagalingam A, Ponte JF. Thiagalingam S, et al. Curr Opin Oncol. 2002 Jan;14(1):65-72. doi: 10.1097/00001622-200201000-00012. Curr Opin Oncol. 2002. PMID: 11790983 Review.
Functional losses of tumor suppressor genes caused by loss of heterozygosity at defined regions during clonal selection for growth advantage define the minimally lost regions as their likely locations on chromosomes. Loss of heterozygosity is elicited at the molecular or c …
Functional losses of tumor suppressor genes caused by loss of heterozygosity at defined regions during clonal selection for growth advantage …
Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.
Burdeus-Olavarrieta M, Nevado J, van Weering-Scholten S, Parker S; European Phelan-McDermid syndrome consortium; Swillen A. Burdeus-Olavarrieta M, et al. Eur J Med Genet. 2023 May;66(5):104745. doi: 10.1016/j.ejmg.2023.104745. Epub 2023 Mar 5. Eur J Med Genet. 2023. PMID: 36871884 Free article.
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical chara …
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogeni …
80 results