TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome (Q28296558)

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English	TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome	scientific article

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instance of

scholarly article

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title

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome (English)

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main subject

craniosynostosis

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patient

1 reference

based on heuristic

inferred from title

Baller-Gerold syndrome

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based on heuristic

inferred from title

Radial aplasia

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based on heuristic

inferred from title

author

Karen Gripp

series ordinal

1

object named as

K W Gripp

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author name string

C A Stolle

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2

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L Celle

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3

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D M McDonald-McGinn

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4

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L A Whitaker

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5

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E H Zackai

series ordinal

6

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language of work or name

English

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publication date

15 January 1999

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published in

American Journal of Medical Genetics Part A

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volume

82

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issue

2

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page(s)

170-6

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cites work

Acrocephalosyndactyly type 3: Chotzen's syndrome.

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Baller-Gerold syndrome: case report and clinical and radiological review

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

The concurrence of hydrocephalus and craniosynostosis.

1 reference

stated in

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Craniosynostosis-radial aplasia syndrome

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stated in

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

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

1 reference

stated in

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Further delineation of the Baller-Gerold syndrome

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stated in

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

A TWIST in development

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stated in

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

The Baller-Gerold syndrome

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Craniosynostosis: genes and mechanisms

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Is there a Baller-Gerold syndrome?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Baller Gerold syndrome and Fanconi anaemia

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990115%2982%3A2%3C170%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

retrieved

21 January 2018

Identifiers

DOI

10.1002/(SICI)1096-8628(19990115)82:2<170::AID-AJMG14>3.0.CO;2-X

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PubMed publication ID

9934984

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