Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
about
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.Global misregulation of genes largely uncoupled to DNA methylome epimutations characterizes a congenital overgrowth syndrome.De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.Comment on "The clinical utility of genome-wide non invasive prenatal screening".Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Prenatal molecular testing for ...... alysis and genetic counseling.
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type
label
Prenatal molecular testing for ...... alysis and genetic counseling.
@en
prefLabel
Prenatal molecular testing for ...... alysis and genetic counseling.
@en
P2093
P2860
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P356
P1476
Prenatal molecular testing for ...... nalysis and genetic counseling
@en
P2093
David Monk
Dirk Prawitt
Eamonn R Maher
Elizabeth Algar
Gabriele Gillessen-Kaesbach
Gudrun E Moore
Irène Netchine
Julián Nevado
Katja Eggermann
P2860
P2888
P304
P356
10.1038/EJHG.2015.224
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P577
2015-10-28T00:00:00Z