(Q54329837)

27 May 2018

title

Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations. (English)

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27 May 2018

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2

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27 May 2018

author name string

Z A Eldadah

series ordinal

1

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27 May 2018

H C Dietz

series ordinal

3

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27 May 2018

language of work or name

English

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publication date

1 August 1995

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27 May 2018

published in

Nature Medicine

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27 May 2018

volume

1

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27 May 2018

issue

8

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27 May 2018

page(s)

798-803

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27 May 2018

https://scigraph.springernature.com/pub.10.1038/nm0895-798

exact match

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cites work

Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis

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https://api.crossref.org/works/10.1038%2FNM0895-798

The Marfan Syndrome: Diagnosis and Management

21 January 2018

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https://api.crossref.org/works/10.1038%2FNM0895-798

Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes

21 January 2018

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7 January 2021

Healthy deliveries from biopsied human embryos

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Preconception and preimplantation diagnosis for cystic fibrosis

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https://api.crossref.org/works/10.1038%2FNM0895-798

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Reliability of detection by polymerase chain reaction of the sickle cell-containing region of the β-globin gene in single human blastomeres

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Preimplantation genetic diagnosis—a rolling stone gathers no moss!

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Using PCR in preimplantation genetic disease diagnosis.

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Whole genome amplification from a single cell: implications for genetic analysis

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Preimplantation diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Prospects for the clinical application of preimplantation diagnosis: the tortoise or the hare?

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers

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7 January 2021

Amplification and analysis of DNA sequences in single human sperm and diploid cells

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

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

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7 January 2021

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Amplification of X- and Y-chromosome-specific regions from single human blastomeres by polymerase chain reaction for sexing of preimplantation embryos

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https://api.crossref.org/works/10.1038%2FNM0895-798

7 January 2021

Inherited genetic defects: analysis and diagnosis at the cellular level in preimplantation embryos

1 reference

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7 January 2021

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

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7 January 2021

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

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7 January 2021

Identifiers

DOI

10.1038/NM0895-798

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27 May 2018

PubMed ID

7585183

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27 May 2018