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Epimutations in human disease

Current topics in microbiology and immunology, 2006, Vol.310, p.45

Horsthemke, B

2006

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Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes

Human reproduction (Oxford), 2016-01, Vol.31 (1), p.133-149

2016

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Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

Journal of medical genetics, 2005-04, Vol.42 (4), p.289-291

2005

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Imprinting defects on human chromosome 15

Cytogenetic and genome research, 2006-03, Vol.113 (1-4), p.292-299

2006

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Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1

International journal of andrology, 2010-08, Vol.33 (4), p.642-649

2010

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Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

Journal of medical genetics, 2008-11, Vol.45 (11), p.731-737

2008

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Assisted reproduction: the epigenetic perspective

Human reproduction update, 2005-09, Vol.11 (5), p.473-482

2005

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Genomisches Imprinting und Imprintingfehler

Medizinische Genetik, 2010-12, Vol.22 (4), p.385-391

Horsthemke, B.

2010

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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.397-413

1999

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Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method

Human molecular genetics, 1997-03, Vol.6 (3), p.387-395

1997

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The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

American journal of human genetics, 1996-05, Vol.58 (5), p.940-949

1996

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A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

Human genetics, 1999-12, Vol.105 (6), p.665-666

1999

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Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level

International journal of molecular medicine, 2008-02, Vol.21 (2), p.189-200

2008

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Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader–Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes

Human molecular genetics, 2003-10, Vol.12 (20), p.2723-2732

2003

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Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

American journal of human genetics, 2002-07, Vol.71 (1), p.162-164

2002

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P–529 Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces

European journal of medical genetics, 2008-01, Vol.51 (1), p.44-53

2008

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Incorrect use of the term synteny

Nature genetics, 1999-12, Vol.23 (4), p.387-387

1999

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Uwe Claussen (1945–2008)

Medizinische Genetik, 2008-09, Vol.20 (3), p.332-333

Horsthemke, B.

2008

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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

American journal of human genetics, 1994-05, Vol.54 (5), p.741-747

1994

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The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder

Journal of intellectual disability research, 2009-06, Vol.53 (6), p.538-547

2009

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Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

Human genetics, 2001-02, Vol.108 (2), p.98-104

2001

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Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations

Proceedings of the National Academy of Sciences - PNAS, 1996-07, Vol.93 (15), p.7811-7815

1996

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Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter

Clinical genetics, 2005-05, Vol.67 (5), p.434-437

2005

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Imprinting und assistierte Reproduktion

Gynäkologische Endokrinologie, 2007-02, Vol.5 (1), p.33-38

Horsthemke, B.

2007

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Epimutations in human disease

Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes

Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

Imprinting defects on human chromosome 15

Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

Assisted reproduction: the epigenetic perspective

Genomisches Imprinting und Imprintingfehler

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader–Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

P–529 Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces

Incorrect use of the term synteny

Uwe Claussen (1945–2008)

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations

Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter

Imprinting und assistierte Reproduktion

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