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作者:A Slavotinek1997被引用次数:101 — 3-->pter (karyotype 46,XY,der(5)t(5;11)(p15.3;p15.3)pat). Paternally derived duplications of 11p15.5 are associated with Beckwith-Wiedemann syndrome (BWS) and ...
作者:Q Wang2017被引用次数:7 — 5 telomeric end and a de novo duplication of 2.5 Mb at 11p15.5–15.4. Both the duplications are of paternal origin with gain of methylation at ...
作者:S Heide2018被引用次数:29 — 5 duplications in patients with SRS and BWS, detected by SNP-array. We compare these variants with those which have been ...
作者:MA Vals2015被引用次数:16 — Large duplications that affect both ICRs in 11p15 are known to be associated with growth retardation/SRS or overgrowth/BWS depending on the ...
作者:EM Algar2007被引用次数:45 — Paternally Inherited Submicroscopic Duplication at 11p15.5 Implicates Insulin-like Growth Factor II in Overgrowth and Wilms' Tumorigenesis.
作者:GC Dworschak2018 — De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia · Background: Congenital diaphragmatic hernia (CDH) is a rare defect ...
作者:AC Smith2007被引用次数:102 — Genomic imprinting refers to parent-of-origin–specific gene expression. Human chromosome band 11p15.5 houses a large ...
作者:KJ Chen2016被引用次数:5 — We presented a case of prenatally detected cytogenetic abnormality that was later proven to encompass a paternal  ...
作者:A Delicado2005被引用次数:18 — Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
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