Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. (Q35194910)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101042%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome (English)

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25 October 2019

author name string

M Godfrey

1

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25 October 2019

N Vandemark

2

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25 October 2019

M Wang

3

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25 October 2019

M Velinov

4

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25 October 2019

D Wargowski

5

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25 October 2019

P Tsipouras

6

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25 October 2019

J Han

7

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25 October 2019

J Becker

8

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25 October 2019

W Robertson

9

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25 October 2019

S Droste

10

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25 October 2019

language of work or name

English

0 references

publication date

1 August 1993

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American Journal of Human Genetics

25 October 2019

published in

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25 October 2019

volume

53

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25 October 2019

issue

2

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25 October 2019

page(s)

472-480

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

25 October 2019

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Identification of an altered splice site in Ashkenazi Tay-Sachs disease

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Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency

28 July 2018

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Splicing of messenger RNA precursors

28 July 2018

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The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.

28 July 2018

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An altered splice site is found in the DRB4 gene that is not expressed in HLA-DR7,Dw11 individuals

28 July 2018

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Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

28 July 2018

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

28 July 2018

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Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

28 July 2018

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Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

28 July 2018

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A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

28 July 2018

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A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

28 July 2018

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

28 July 2018

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

28 July 2018

1 reference

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Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency

28 July 2018

1 reference

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Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency

28 July 2018

1 reference

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Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis

28 July 2018

1 reference

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Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene

28 July 2018

1 reference

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G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

28 July 2018

1 reference

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Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic.

28 July 2018

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Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

28 July 2018

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Attitudes toward the prenatal diagnosis of cystic fibrosis: factors in decision making among affected families

28 July 2018

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Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

28 July 2018

1 reference

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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

28 July 2018

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28 July 2018

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Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles

28 July 2018

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28 July 2018

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An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

27 September 2018

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Marfan syndrome in a large family: response of family members to a screening programme

27 September 2018

1 reference

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Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

27 September 2018

1 reference

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Fetal Marfan syndrome: prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions

25 October 2018

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12 December 2020

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

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12 December 2020

A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing

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12 December 2020

Severe Hb S-beta zero-thalassaemia with a T----C substitution in the donor splice site of the first intron of the beta-globin gene

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12 December 2020

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

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12 December 2020

Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB

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12 December 2020

Carrier screening for cystic fibrosis: a pilot study of the attitudes of pregnant women

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12 December 2020

Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis

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12 December 2020

Reproductive decision making of aunts and uncles of a child with cystic fibrosis: genetic risk perception and attitudes toward carrier identification and prenatal diagnosis

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12 December 2020

Splice site mutations are a common cause of X-linked chronic granulomatous disease

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12 December 2020

A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

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12 December 2020

Identifiers

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25 October 2019

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