Lista de obras -

A physical map of the human genome

artículo científico publicado en 2001

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

artículo científico publicado en 2006

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

artículo científico publicado en 2005

Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry

artículo científico publicado en 2007

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

artículo científico publicado en 2002

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

artículo científico publicado en 2016

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

artículo científico publicado en 2018

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

Cancer Risks Associated With and Pathogenic Variants

artículo científico publicado en 2022

Chromosomal region 15q21.1 is a frequent target of allelic imbalance in advanced breast carcinomas

artículo científico publicado en 2003

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22

article

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer

scientific article published on 21 April 2020

Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker

artículo científico publicado en 2009

Full-Length L1CAM and Not Its Δ2Δ27 Splice Variant Promotes Metastasis through Induction of Gelatinase Expression ⬇️

artículo científico publicado el 25 de abril de 2011

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2018

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

artículo científico publicado en 2010

High expression of crystallin αB represents an independent molecular marker for unfavourable ovarian cancer patient outcome and impairs TRAIL- and cisplatin-induced apoptosis in human ovarian cancer cells.

artículo científico publicado en 2012

Honeybee (Apis mellifera L.) mrjp gene family: computational analysis of putative promoters and genomic structure of mrjp1, the gene coding for the most abundant protein of larval food

artículo científico publicado en 2003

Identification of brain- and bone-specific breast cancer metastasis genes

artículo científico publicado en 2008

Initial sequencing and analysis of the human genome

artículo científico publicado en 2001

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

artículo científico publicado en 2004

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

artículo científico publicado en 2020

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

artículo científico publicado en 2008

Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4

artículo científico publicado en 2003

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge

artículo científico publicado en 2020

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

artículo científico publicado en 2007

Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus

artículo científico publicado en 2005

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

artículo científico publicado en 2002

Lista de obras de

A physical map of the human genome

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Cancer Risks Associated With and Pathogenic Variants

Chromosomal region 15q21.1 is a frequent target of allelic imbalance in advanced breast carcinomas

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer

Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker

Full-Length L1CAM and Not Its Δ2Δ27 Splice Variant Promotes Metastasis through Induction of Gelatinase Expression ⬇️

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

High expression of crystallin αB represents an independent molecular marker for unfavourable ovarian cancer patient outcome and impairs TRAIL- and cisplatin-induced apoptosis in human ovarian cancer cells.

Honeybee (Apis mellifera L.) mrjp gene family: computational analysis of putative promoters and genomic structure of mrjp1, the gene coding for the most abundant protein of larval food

Identification of brain- and bone-specific breast cancer metastasis genes

Initial sequencing and analysis of the human genome

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge

The DNA sequence of the human X chromosome

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15