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ESHRE PGT Consortium good practice recommendations for the organisation of PGT

Human reproduction open, 2020-06, Vol.2020 (3), p.1-hoaa021

2020

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ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders

Human reproduction open, 2020-01, Vol.2020 (3), p.hoaa018

2020

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Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders

Prenatal diagnosis, 2023-04, Vol.43 (4), p.506-515

2023

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Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

American journal of human genetics, 2007-10, Vol.81 (4), p.813-820

2007

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Preimplantation genetic testing in patients with genetic susceptibility to cancer

Familial cancer, 2023-01, Vol.22 (1), p.119-125

2023

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Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.221-227

2016

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Evolution of the Friedreich's Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations

Proceedings of the National Academy of Sciences - PNAS, 1997-07, Vol.94 (14), p.7452-7457

1997

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The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis

European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.800-806

2013

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Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.368-375

2012

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PGD for de novo mutation: when mosaicism prevents PGD setup and leads to genetic counselling revision

Reproductive biomedicine online, 2018-03, Vol.36, p.e37

2018

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P-50 - PGD for de novo mutation: when mosaicism prevents PGD setup and leads to genetic counselling revision

Reproductive biomedicine online, 2018-03, Vol.36, p.e37-e37

2018

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High-efficiency derivation of human embryonic stem cell lines following pre-implantation genetic diagnosis

In vitro cellular & developmental biology. Animal, 2010-04, Vol.46 (3-4), p.376-385

2010

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Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

European journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.1010-1010

2012

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ESHRE PGD Consortium data collection IV: May–December 2001

Human reproduction (Oxford), 2005-01, Vol.20 (1), p.19-34

2005

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Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties

Human reproduction (Oxford), 2003-03, Vol.18 (3), p.509-514

2003

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

European journal of human genetics : EJHG, 2002-04, Vol.10 (4), p.231-238

2002

Volltextzugriff (PDF)

New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications

European journal of human genetics : EJHG, 2004-12, Vol.12 (12), p.1007-1014

2004

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Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene

Prenatal diagnosis, 2006-11, Vol.26 (11), p.1037-1041

2006

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Strategies and outcomes of PGD of familial adenomatous polyposis

Molecular human reproduction, 2007-02, Vol.13 (2), p.95-101

2007

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What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee

Human reproduction (Oxford), 2010-04, Vol.25 (4), p.821-823

2010

Volltextzugriff (PDF)

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.1012-1018

2014

Volltextzugriff (PDF)

Erratum: Preimplantation genetic diagnosis (PGD) for Huntington’s disease: the experience of three European centres

European journal of human genetics : EJHG, 2012-08, Vol.20 (9), p.1010-1010

2012

Volltextzugriff (PDF)

Birth after pre-implantation genetic diagnosis (PGD) of spinocerebellar ataxia 2 (Sca2)

Prenatal diagnosis, 2008-02, Vol.28 (2), p.126-130

2008

Volltextzugriff (PDF)

Homozygous Mutation in SPATA16Is Associated with Male Infertility in Human Globozoospermia

American journal of human genetics, 2007-10, Vol.81 (4), p.813

2007

Volltextzugriff (PDF)

Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy

Prenatal diagnosis, 2003-08, Vol.23 (8), p.685-689

2003

Volltextzugriff (PDF)

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ESHRE PGT Consortium good practice recommendations for the organisation of PGT

ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Preimplantation genetic testing in patients with genetic susceptibility to cancer

Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests

Evolution of the Friedreich's Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations

The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

PGD for de novo mutation: when mosaicism prevents PGD setup and leads to genetic counselling revision

P-50 - PGD for de novo mutation: when mosaicism prevents PGD setup and leads to genetic counselling revision

High-efficiency derivation of human embryonic stem cell lines following pre-implantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

ESHRE PGD Consortium data collection IV: May–December 2001

Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties

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

New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications

Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene

Strategies and outcomes of PGD of familial adenomatous polyposis

What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

Erratum: Preimplantation genetic diagnosis (PGD) for Huntington’s disease: the experience of three European centres

Birth after pre-implantation genetic diagnosis (PGD) of spinocerebellar ataxia 2 (Sca2)

Homozygous Mutation in SPATA16Is Associated with Male Infertility in Human Globozoospermia

Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy

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