(Q51698785)

10 April 2018

title

Preimplantation genetic diagnosis of X-linked retinoschisis. (English)

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10 April 2018

author name string

Belén Lledó

1

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10 April 2018

Jorge Ten

2

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10 April 2018

Dori Rodriguez-Arnedo

3

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10 April 2018

Joaquín Llácer

4

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10 April 2018

Rafael Bernabeu

5

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10 April 2018

publication date

1 June 2008

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10 April 2018

Reproductive BioMedicine Online

published in

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10 April 2018

volume

16

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10 April 2018

issue

6

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10 April 2018

page(s)

886-892

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10 April 2018

Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR

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Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

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

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Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

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Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification.

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Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification.

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Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA.

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Predictability of preimplantation genetic diagnosis of aneuploidy and translocations on prospective attempts

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Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification

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Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis.

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Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis

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Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view

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Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer.

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Current status of preimplantation diagnosis for single gene disorders.

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First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy

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Identifiers

DOI

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10 April 2018

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10 April 2018