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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Human molecular genetics, 1994-02, Vol.3 (2), p.223-228

1994

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Nature genetics, 1996-03, Vol.12 (3), p.288-297

1996

Volltextzugriff (PDF)

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

Nature genetics, 1992-12, Vol.2 (4), p.292-300

1992

Volltextzugriff (PDF)

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

Nature genetics, 1992-06, Vol.1 (3), p.159-165

1992

Volltextzugriff (PDF)

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Cell, 1991-07, Vol.66 (2), p.219-232

1991

Volltextzugriff (PDF)

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication

American journal of human genetics, 1993-10, Vol.53:4

1993

Volltextzugriff (PDF)

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

Nature genetics, 1992-04, Vol.1 (1), p.29-33

1992

Volltextzugriff (PDF)

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A

Nature genetics, 1993-10, Vol.5 (2), p.189-194

1993

Volltextzugriff (PDF)

Maternal uniparental isodisomy of chromosome 14 : association with autosomal recessive rod monochromacy

American journal of human genetics, 1992-04, Vol.50 (4), p.690-699

1992

Volltextzugriff (PDF)

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Nature genetics, 1998-07, Vol.19 (3), p.303-303

1998

Volltextzugriff (PDF)

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

American journal of medical genetics, 1993-01, Vol.45 (1), p.92-96

1993

Volltextzugriff (PDF)

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

American journal of human genetics, 1993-10, Vol.53 (4), p.853-863

1993

Volltextzugriff (PDF)

Mutant nucleophosmin and cooperating pathways drive leukemia initiation and progression in mice

Nature genetics, 2011-05, Vol.43 (5), p.470-475

2011

Volltextzugriff (PDF)

PiggyBac Transposon Mutagenesis: A Tool for Cancer Gene Discovery in Mice

Science (American Association for the Advancement of Science), 2010-11, Vol.330 (6007), p.1104-1107

2010

Volltextzugriff (PDF)

BCL11A interacts with SOX2 to control the expression of epigenetic regulators in lung squamous carcinoma

Nature communications, 2018-08, Vol.9 (1), p.3327-11, Article 3327

2018

Volltextzugriff (PDF)

Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC-derived neural stem cells in glioblastoma

Nature communications, 2021-10, Vol.12 (1), p.6130-6130, Article 6130

2021

Volltextzugriff (PDF)

JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease

Blood, 2014-05, Vol.123 (20), p.3139-3151

2014

Volltextzugriff (PDF)

Establishment of mouse expanded potential stem cells

Nature (London), 2017-10, Vol.550 (7676), p.393-397

2017

Volltextzugriff (PDF)

Bcl11a controls Flt3 expression in early hematopoietic progenitors and is required for pDC development in vivo

PloS one, 2013-05, Vol.8 (5), p.e64800

2013

Volltextzugriff (PDF)

Reprogramming of T Cells to Natural Killer-Like Cells upon Bcl11b Deletion

Science (American Association for the Advancement of Science), 2010-07, Vol.329 (5987), p.85-89

2010

Volltextzugriff (PDF)

ANGPTL7 regulates the expansion and repopulation of human hematopoietic stem and progenitor cells

Haematologica (Roma), 2015-05, Vol.100 (5), p.585

2015

Volltextzugriff (PDF)

A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan

EMBO reports, 2019-11, Vol.20 (11), p.e47967-n/a

2019

Volltextzugriff (PDF)

A genome-wide, end-sequenced 129Sv BAC library resource for targeting vector construction

Genomics (San Diego, Calif.), 2005-12, Vol.86 (6), p.753-758

2005

Volltextzugriff (PDF)

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A

Maternal uniparental isodisomy of chromosome 14 : association with autosomal recessive rod monochromacy

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

Establishment of porcine and human expanded potential stem cells

Mutant nucleophosmin and cooperating pathways drive leukemia initiation and progression in mice

PiggyBac Transposon Mutagenesis: A Tool for Cancer Gene Discovery in Mice

BCL11A interacts with SOX2 to control the expression of epigenetic regulators in lung squamous carcinoma

Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC-derived neural stem cells in glioblastoma

JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease

Establishment of mouse expanded potential stem cells

Bcl11a controls Flt3 expression in early hematopoietic progenitors and is required for pDC development in vivo

Reprogramming of T Cells to Natural Killer-Like Cells upon Bcl11b Deletion

ANGPTL7 regulates the expansion and repopulation of human hematopoietic stem and progenitor cells

A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan

A genome-wide, end-sequenced 129Sv BAC library resource for targeting vector construction

Stem cell-derived porcine macrophages as a new platform for studying host-pathogen interactions

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