About: De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2011 (uk) im Juni 2011 veröffentlichter wissenschaftlicher Artikel (de) article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics (en)
publication date	wds:Q55671561-50EF8675-C202-48DA-ACD9-FE10F711FB6F
publication date	2011-06-26 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q55671561-6782C8F1-E25D-469A-B7AF-4316437C65F0
language of work or name	English
exact match	wds:Q55671561-2330872F-2BDB-4A4F-8CC6-6E6EB7A05018
exact match	https://scigraph.springernature.com/pub.10.1038/ng.868
cites work	wds:Q55671561-058C6E42-171C-43F7-9BDD-8815F62E2FC0 wds:Q55671561-1190AAF8-734C-41CD-889A-AABBC3C79463 wds:Q55671561-404C7899-B2A7-4C36-BD9C-E0554DE59AD8 wds:Q55671561-404DB862-817A-425C-AE56-BF8C9080E244 wds:Q55671561-56DD3F93-87CB-4023-93CD-31F9599C9D6D wds:Q55671561-5CDB306A-D531-46E8-8A4B-00561F75CD7F wds:Q55671561-5DF246FE-979A-43E8-AB2D-F264FDE9DB25 wds:Q55671561-A7A4B31B-F359-4270-B72C-240C6AFE1B3B wds:Q55671561-AF946F7D-2AB9-4436-B4FE-7A7B86179BC8 wds:Q55671561-B00008F0-2E97-4236-9326-F014E3C7B9A3 wds:Q55671561-C49FA81E-0546-4B1E-907A-73DEEC1309A2 wds:Q55671561-CFC1C781-71E9-4809-944C-5EFE38FB23E6 wds:Q55671561-ED3E927D-C96E-428C-ADEE-87618A15F21C
cites work	Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes The Opitz trigonocephaly syndrome. A case report New cases of Bohring-Opitz syndrome, update, and critical review of the literature
author name string	wds:Q55671561-1578FC23-C2AE-4A32-A295-A6E73A25A454 wds:Q55671561-1583831C-0A0A-441B-9A09-A2606BF0E7D8 wds:Q55671561-2668294E-5595-434E-9F46-03AEE2C2759E wds:Q55671561-318A8472-DA0E-4280-93DC-66F908D06D3E wds:Q55671561-4F761A9F-9DDF-486A-95D6-0D04F1D9F98C wds:Q55671561-64F9DE50-4439-4DB4-B18B-2A0BDBA82472 wds:Q55671561-6D2CAFF5-24DF-4EFA-BFF7-BC04E377ADD1 wds:Q55671561-842409CF-721D-4F44-A662-02E2A6F44355 wds:Q55671561-C4FD8923-B5F7-4ADF-A4CC-026D431D726A wds:Q55671561-C555E7F4-1127-44FD-8CB0-B0DBBCE249EF wds:Q55671561-D7C241BB-664A-4760-9D7B-3242052C5A4D wds:Q55671561-F8A08640-360E-4EDD-9926-33B75ECE45FE
author name string	Joris A Veltman Deborah Bartholdi Gabriele Gillessen-Kaesbach Sarah F Smithson Jan M Cobben Susanne Kjaergaard Rob Hastings Ruth McGowan Irene Janssen Petra de Vries Maarit Peippo Bart van Lier
rdfs:label	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (en) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (nl)
skos:prefLabel	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (en) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (nl)
name	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (en) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (nl)
author	wds:Q55671561-03EBBFBC-8915-4275-89AB-6B722515F6C3 wds:Q55671561-042CC22D-0C24-43EE-921E-91AFA71ACEEE wds:Q55671561-0AC3D463-F967-4898-A7FB-A87B1230F95F wds:Q55671561-1627261F-6539-4721-BB14-2BFB316BC5A8 wds:Q55671561-477E2E12-7E38-4B2B-AA00-7E2E56A2390C wds:Q55671561-4BD7DC4A-16A7-4DD4-9818-FB3BD76D8E3A wds:Q55671561-70C34241-32C0-4254-9317-ED998BB17328 wds:Q55671561-97D47BC1-7C00-4C4A-B5F2-384B991FAD20 wds:Q55671561-A11DA498-52B1-4271-B319-C45B039EDD5D wds:Q55671561-C236373D-A6A0-4BAB-8657-69EF0E1F5266 wds:Q55671561-C9801566-ACF5-4803-9FBB-EDE51D53573A wds:Q55671561-D253E568-4644-4CA2-857A-0C915DA509D2
author	Judith A Goodship Anita Rauch Christian Gilissen Bert B A de Vries Han G. Brunner Alexander Hoischen Ruth Newbury-Ecob Dagmar Wieczorek Joris A Veltman Benjamín Rodríguez-Santiago Bregje W van Bon Lisenka Vissers
title	wds:Q55671561-01D0A323-0AF6-4F58-B61A-E8B88969A7B0
title	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (en)
page(s)	wds:Q55671561-82F3C3DB-CE9C-4036-8804-7E8A92E92A55 wds:Q55671561-C80F46BF-3335-4EDC-8ACC-B9CA774C60F7
page(s)	729-31 729-731
instance of	wds:Q55671561-E0885DBE-4338-42C2-9741-941ED0F99DEF
instance of	scholarly article
main subject	wds:Q55671561-EB19C7AC-42B9-47CC-A876-E5BB36057AC7

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