Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation (Q62613724)

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1 November 2019

title

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation (English)

1 reference

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1 November 2019

main subject

thanatophoric dysplasia

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2

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1 November 2019

author name string

Pierangela De Biasio

1

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1 November 2019

Maria Baffico

3

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1 November 2019

Maurizia Baldi

4

1 reference

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1 November 2019

Manuela Priolo

5

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1 November 2019

Margherita Lerone

6

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1 November 2019

Paolo Tomà

7

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1 November 2019

Pier Luigi Venturini

8

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1 November 2019

publication date

2000

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1 October 2000

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1 November 2019

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1 November 2019

volume

20

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1 November 2019

issue

10

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1 November 2019

page(s)

835-837

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Prenatal sonographic assessment of the fetal thorax: normal values

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Bone dysplasias: the prenatal diagnostic challenge.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Prenatal sonographic diagnosis of thanatophoric dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Thanatophoric dysplasia and cloverleaf skull

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Normal sonographic appearance of a thanatophoric dwarf variant fetus at 13 weeks gestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

21 January 2018

Thanatophoric dwarfism.

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Antenatal diagnosis of lethal skeletal dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-0223%28200010%2920%3A10%3C835%3A%3AAID-PD903%3E3.0.CO%3B2-N

10.1002/1097-0223(200010)20:10<835::AID-PD903>3.0.CO;2-N

21 January 2018

Identifiers

DOI

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1 November 2019

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