About: No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

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About: No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome Goto Sponge NotDistinct Permalink

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scientific article published on 01 August 2003

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2003 (uk) article scientifique publié en 2003 (fr) im August 2003 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'agostu de 2003 (ast) scientific article published on 01 August 2003 (en)
publication date	wds:Q73758543-91D3F3BB-991D-4122-AC70-19A92C2249DB
publication date	2003-08-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q73758543-0D48C331-1E43-4426-AAA2-745B96B508EC wds:Q73758543-210ACCB0-6569-4398-8C85-2F1177739E2E wds:Q73758543-3B25BD77-9FE3-480C-A8D2-3748BEDA0480 wds:Q73758543-51EB43DD-9FCC-414B-BCA9-9D7A5AD43E02 wds:Q73758543-5CE98E6C-4749-4A37-BB22-6111B08D1782 wds:Q73758543-65E4E0CB-1D88-48F6-9675-D82E0C8A9C21 wds:Q73758543-9F537D47-1853-407D-8E9C-FFF87DF56FFE wds:Q73758543-BBCF5EBC-D357-48F1-8BCB-1DB65818057C wds:Q73758543-E978D7EC-2B03-487D-9020-E23E33F34F29 wds:Q73758543-EC13B165-68AF-443A-B199-1E17EFE65A7D wds:Q73758543-ED877222-EB28-43F1-B5ED-D847BA410AA9 wds:Q73758543-EF187970-0FFA-4548-B8B6-3785362402B7 wds:Q73758543-FEEFD7A9-62E1-4C35-BF56-4CC606FD38F7
cites work	Identification of a human src homology 2-containing protein-tyrosine-phosphatase: a putative homolog of Drosophila corkscrew Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome The Noonan-CFC controversy Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity PTPN11 mutations in LEOPARD syndrome The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same? Further delineation of cardiac abnormalities in Costello syndrome Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? More on the Noonan-CFC controversy The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome? Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
author name string	wds:Q73758543-246AE91E-BA77-43AB-A7A6-006537C09386 wds:Q73758543-258957E0-F54E-41C0-B2FD-A7C8871AD4BE wds:Q73758543-27A91802-F5AE-44DC-B30E-9FB90A98C248 wds:Q73758543-2B5064A7-A7B2-4C9E-952C-2EA30D016D1D wds:Q73758543-2C16A2BD-93D6-4DC7-A7B8-E00286DED387 wds:Q73758543-4F493E7C-11ED-488F-B440-FCA8FB77EC5C wds:Q73758543-6C9CDC59-ADFB-47B9-9C59-D1FB5AFED327 wds:Q73758543-9D7DD539-59A8-4684-B8A0-5FE532E26ABD wds:Q73758543-9FCA6179-072B-4CDB-82F8-B619EE9DBF8C wds:Q73758543-A52FBC67-C104-438F-B6F9-0CC974C9499A wds:Q73758543-B26FE875-ED00-44EC-BB71-366242FCF236 wds:Q73758543-B288AD4E-6950-432E-BCFD-E319EE63FBB9 wds:Q73758543-EE62B9BE-D4A9-4FDE-A967-C5A2108AEDF5
author name string	Andreas Gal Peter Meinecke Sabine Lüttgen Dagmar Wieczorek Kerstin Kutsche Peter Freisinger Berthold Streubel Elke Hobbiebrunken Hanno Bolz Birte Tröger Margarita Stefanova Michel Morlot Zsuzsanna Almassy
rdfs:label	No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome (en) No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome (nl)
skos:prefLabel	No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome (en) No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome (nl)
name	No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome (en) No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome (nl)
author	wds:Q73758543-39FCA3CE-E739-4233-9979-9A2FCDC7158C
author	Almuth Caliebe
title	wds:Q73758543-131E0681-D298-465E-8FC2-7245071B5F14
title	No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome (en)
page(s)	wds:Q73758543-444DBF68-4D37-4C2D-9F6E-7FA15F1094ED
page(s)	82-84
instance of	wds:Q73758543-5635FBA1-5135-4E62-B24E-AD98C1BBA892
instance of	scholarly article
main subject	wds:Q73758543-233A8A9A-BA5C-4833-9CA5-4CD63D4091D5 wds:Q73758543-DA767CB0-BC99-40BF-8D17-1D84DCBDD754
main subject	Costello syndrome Noonan syndrome
PubMed ID	wds:Q73758543-38728F46-6FC7-46FA-8598-EF7D0D0C7BA9
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12900909
PubMed ID	12900909
published in	wds:Q73758543-53B39F20-4A2F-400C-81E9-6F816D1392C2
published in	American Journal of Medical Genetics
issue	wds:Q73758543-DDA94D06-2143-40F2-9E91-D0B81E0BE94B
volume	wds:Q73758543-8B735557-7EA5-424B-8822-B326D1FB1FFA
issue	1
volume	121A
DOI	wds:Q73758543-711816D5-E371-4E25-BEC7-EB35B66AC19E
DOI	http://dx.doi.org/10.1002/AJMG.A.20122
DOI	10.1002/AJMG.A.20122
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73758543
is cites work of	Germline mutations in HRAS proto-oncogene cause Costello syndrome The cardiofaciocutaneous syndrome LEOPARD Syndrome: Clinical Features and Gene Mutations Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome. Noonan syndrome and Leopard syndrome linked to mutation of the gene PTPN11
is cites work of	wds:Q41880278-9820FD45-66C4-43FF-861A-7D131C6B343B wds:Q28272971-D54640E8-BB2D-4195-A73C-BDB1B0FCC5B8 wds:Q46484577-304150D2-17B3-446B-A517-E80659D5ABC7

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