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Quoted phrase not found in phrase index: "Paternal 14q32.2 microdeletion syndrome"
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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Baena N, Monk D, Aguilera C, Fraga MF, Fernández AF, Gabau E, Corripio R, Capdevila N, Trujillo JP, Ruiz A, Guitart M. Baena N, et al. Clin Epigenetics. 2024 May 7;16(1):62. doi: 10.1186/s13148-024-01652-8. Clin Epigenetics. 2024. PMID: 38715103 Free PMC article.
BACKGROUND: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes in the 14q …
BACKGROUND: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal m …
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ. Béna F, et al. Hum Mol Genet. 2010 May 15;19(10):1967-73. doi: 10.1093/hmg/ddq075. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179077
We describe an identical 1.11 Mb heterozygous deletion of 14q32.2 including the DLK1/GTL2 imprinted gene cluster in two unrelated patients. ...Our results define a recurrent microdeletion of the 14q32.2 imprinted gene cluster mediated by flankin …
We describe an identical 1.11 Mb heterozygous deletion of 14q32.2 including the DLK1/GTL2 imprinted gene cluster in two unrela …
Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report.
Huang H, Mikami Y, Shigematsu K, Uemura N, Shinsaka M, Iwatani A, Miyake F, Kabe K, Takai Y, Saitoh M, Baba K, Seki H. Huang H, et al. J Med Case Rep. 2019 Nov 22;13(1):340. doi: 10.1186/s13256-019-2298-y. J Med Case Rep. 2019. PMID: 31753000 Free PMC article.
BACKGROUND: Kagami-Ogata syndrome is also known as paternal uniparental disomy 14 and related disorders and is caused by abnormal genomic imprinting in the long arm of the chromosome 14q32.2 region. ...Both the parents were genetically tested after ade …
BACKGROUND: Kagami-Ogata syndrome is also known as paternal uniparental disomy 14 and related disorders and is caused by abnor …