(Q45930945)

17 December 2017

title

Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? (English)

1 reference

17 December 2017

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Katherine A Rauen

1

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17 December 2017

Donna G Albertson

series ordinal

2

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17 December 2017

Daniel Pinkel

series ordinal

3

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17 December 2017

Philip D Cotter

series ordinal

4

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17 December 2017

publication date

1 June 2002

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17 December 2017

American Journal of Medical Genetics Part A

published in

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17 December 2017

volume

110

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17 December 2017

page(s)

51-56

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17 December 2017

issue

1

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17 December 2017

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Fully automatic quantification of microarray image data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Assembly of microarrays for genome-wide measurement of DNA copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Integration of cytogenetic landmarks into the draft sequence of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Case of interstitial 12q deletion in association with Wilms tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

Heterogeneity of cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10478

21 January 2018

Identifiers

DOI

10.1002/AJMG.10478

1 reference

17 December 2017

PubMed ID

12116271

1 reference

17 December 2017