(Q45870920)

English

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.

scientific article published on 12 December 2003

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

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. (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

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X-linked adrenoleukodystrophy

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based on heuristic

inferred from title

8

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

object named as

Nelly Frydman

2

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object named as

Julie Steffann

5

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7

object named as

Arnold Munnich

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

author name string

Nadine Gigarel

1

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

Philippe Burlet

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

Violaine Kerbrat

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

René Frydman

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

publication date

12 December 2003

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

114

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

3

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

298-305

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis*

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful preimplantation genetic diagnosis for sex Link Lesch--Nyhan Syndrome using specific diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

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inferred from PubMed ID database lookup

ESHRE Preimplantation Genetic Diagnosis Consortium: data collection III (May 2001).

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biopsy of human preimplantation embryos and sexing by DNA amplification.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the DeltaF508 mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preimplantation diagnosis for ornithine transcarbamylase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polar body-based preimplantation diagnosis for X-linked disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673643

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-003-1063-9

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

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0 references

release_xgwyzeqjg5hexhx6pjv73kmcim

1 reference

https://api.fatcat.wiki/v0/release/xgwyzeqjg5hexhx6pjv73kmcim

24 November 2022

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mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/14673643

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