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Year Number of Results
1990 1
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1992 4
1993 8
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1995 9
1996 8
1997 14
1998 9
1999 10
2000 9
2001 9
2002 14
2003 7
2004 13
2005 18
2006 11
2007 9
2008 12
2009 13
2010 13
2011 14
2012 15
2013 16
2014 10
2015 17
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2025 0

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349 results

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Page 1
Prader-Willi syndrome.
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Cassidy SB, et al. Genet Med. 2012 Jan;14(1):10-26. doi: 10.1038/gim.0b013e31822bead0. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237428 Free article. Review.
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation …
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65- …
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL. Butler MG, et al. Curr Pediatr Rev. 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. Curr Pediatr Rev. 2019. PMID: 31333129 Free PMC article. Review.
BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy
BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from …
Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
There are four molecular mechanisms of etiology: maternal deletion of chromosome 15q11-q13, paternal uniparental disomy of chromosome 15q11-q13, imprinting defects, and maternally inherited UBE3A mutations. ...
There are four molecular mechanisms of etiology: maternal deletion of chromosome 15q11-q13, paternal uniparental disomy of chr …
Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H. Jüppner H. J Clin Endocrinol Metab. 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. J Clin Endocrinol Metab. 2021. PMID: 33529330 Free PMC article. Review.
However, this disease variant remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy or heterodisomy of chromosome 20q (patUPD20q)....
However, this disease variant remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT. Harteveld CL, et al. Int J Lab Hematol. 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. Int J Lab Hematol. 2022. PMID: 36074711 Free PMC article. Review.
The disease mechanisms may involve duplicated alpha-globin genes, mosaic partial Uniparental Isodisomy of chromosome 11p15.4 where the HBB gene is located or haplo-insufficiency of a non-linked gene SUPT5H on chromosome 19q, first described in two Dutch families wit …
The disease mechanisms may involve duplicated alpha-globin genes, mosaic partial Uniparental Isodisomy of chromosome 11p15.4 w …
Uniparental disomy: Origin, frequency, and clinical significance.
Benn P. Benn P. Prenat Diagn. 2021 Apr;41(5):564-572. doi: 10.1002/pd.5837. Epub 2021 Mar 5. Prenat Diagn. 2021. PMID: 33179335 Review.
Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. ...The most common type of UPD is a maternal heterodisomy (both maternal allele sets present). Isodisomy (a duplicated single set of alleles) or segmental lo
Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. ...The most common type
Imprinting disorders in humans: a review.
Butler MG. Butler MG. Curr Opin Pediatr. 2020 Dec;32(6):719-729. doi: 10.1097/MOP.0000000000000965. Curr Opin Pediatr. 2020. PMID: 33148967 Free PMC article. Review.
Albright hereditary osteodystrophy), uniparental chromosome 14 disomy, chromosome 6q24-related transient neonatal diabetes mellitus, parent of origin effects in 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome and 15q11-q13 single gene imprinted disorders. ...
Albright hereditary osteodystrophy), uniparental chromosome 14 disomy, chromosome 6q24-related transient neonatal diabetes mel …
Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature.
Eggenhuizen GM, Go A, Koster MPH, Baart EB, Galjaard RJ. Eggenhuizen GM, et al. Hum Reprod Update. 2021 Aug 20;27(5):885-903. doi: 10.1093/humupd/dmab009. Hum Reprod Update. 2021. PMID: 33984128 Free PMC article. Review.
High levels of mosaicism in CVS and presence of uniparental disomy (UPD) were significantly associated with adverse pregnancy outcomes. WIDER IMPLICATIONS: Based on the literature, the advice to clinicians is to monitor fetal growth intensively from first trimester …
High levels of mosaicism in CVS and presence of uniparental disomy (UPD) were significantly associated with adverse pregnancy …
Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts.
Shallis RM, Ahmad R, Zeidan AM. Shallis RM, et al. Eur J Haematol. 2018 Dec;101(6):711-720. doi: 10.1111/ejh.13153. Epub 2018 Oct 10. Eur J Haematol. 2018. PMID: 30055055 Review.
In addition, recurring mutations in BCOR/BCORL, PIGA, DNMT3A, and ASXL1 as well as cytogenetic abnormalities, namely monosomy 7, trisomy 8, and uniparental disomy of the 6p arm seem to be intimately related to AA pathogenesis. The increased incidence of late clonal …
In addition, recurring mutations in BCOR/BCORL, PIGA, DNMT3A, and ASXL1 as well as cytogenetic abnormalities, namely monosomy 7, trisomy 8, …
Epilepsy in Angelman syndrome: A scoping review.
Samanta D. Samanta D. Brain Dev. 2021 Jan;43(1):32-44. doi: 10.1016/j.braindev.2020.08.014. Epub 2020 Sep 4. Brain Dev. 2021. PMID: 32893075 Free PMC article. Review.
Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalities(ataxia, tremor), and unique behaviors such as frequent laughter and is caused by dysfunctional maternal UBE3A gene (maternal 15q11-13 deletions, mater …
Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalities(ataxia, tr …
349 results