Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis (Q73623267)

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5 November 2019

title

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis (English)

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5 November 2019

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I Toudjarska

1

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M W Kilpatrick

2

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P Lembessis

3

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S Carra

4

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G L Harton

5

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M E Sisson

6

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S H Black

7

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H J Stern

8

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Z Gelman-Kohan

9

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M Shohat

10

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P Tsipouras

11

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publication date

1 April 2001

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American Journal of Medical Genetics Part A

5 November 2019

published in

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volume

99

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issue

4

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page(s)

294-302

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Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

5 November 2019

cites work

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Revised diagnostic criteria for the Marfan syndrome

21 January 2018

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

21 January 2018

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Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

21 January 2018

1 reference

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

21 January 2018

1 reference

The skipping of constitutive exons in vivo induced by nonsense mutations

21 January 2018

1 reference

Preimplantation genetic diagnosis for spinal muscular atrophy type I

21 January 2018

1 reference

Preimplantation genetic testing for Marfan syndrome

21 January 2018

1 reference

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

21 January 2018

1 reference

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

21 January 2018

1 reference

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

21 January 2018

1 reference

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

21 January 2018

1 reference

Preimplantation genetic diagnosis in Marfan syndrome

21 January 2018

1 reference

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

21 January 2018

1 reference

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

21 January 2018

1 reference

A novel mutation of the fibrillin gene causing ectopia lentis

21 January 2018

1 reference

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

21 January 2018

1 reference

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

21 January 2018

1 reference

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

21 January 2018

1 reference

The Marfan Syndrome: Diagnosis and Management

21 January 2018

1 reference

Fibrillln mutations in Marfan syndrome and related phenotypes

21 January 2018

1 reference

The molecular genetics of Marfan syndrome and related microfibrillopathies

21 January 2018

1 reference

Life expectancy in the Marfan syndrome

21 January 2018

1 reference

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

Intracytoplasmic sperm injection facilitates fertilization even in the most severe forms of male infertility: pregnancy outcome correlates with maternal age and number of eggs available.

21 January 2018

1 reference

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

21 January 2018

1 reference

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1174

1 reference

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5 November 2019

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