(Q56262794)

11

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author name string

Konstantinos Varvagiannis

1

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Amalia Stefanidou

2

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Yolanda Gyftodimou

3

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Helen Lord

4

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Louise Williams

5

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Catherine Sarri

6

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Efi Pandelia

7

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Euterpe Bazopoulou-Kyrkanidou

8

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Charlotte Noakes

9

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Tracy Lester

10

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Michael B. Petersen

American Journal of Medical Genetics

12

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language of work or name

English

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publication date

10 January 2013

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February 2013

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published in

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volume

161

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161A

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issue

2

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page(s)

343-351

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343-51

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cites work

Immunodeficiency in a child with partial trisomy 6p.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

A twist code determines the onset of osteoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

A natural history of cleidocranial dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Early craniofacial signs of cleidocranial dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

A genome-wide scalable SNP genotyping assay using microarray technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Molecularly defined interstitial tandem duplication 6p case with mild manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Whole-genome genotyping with the single-base extension assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Craniosynostosis-associated gene nell-1 is regulated by runx2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35727