List of works - Zeynep Tumer

A human phenome-interactome network of protein complexes implicated in genetic disorders

scientific article (publication date: March 2007)

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

scientific article

Menkes disease

scientific article published on 04 November 2009

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

scientific article published on 19 August 2008

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome

scientific article

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

scientific article

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

scientific article

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

scientific article

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

scientific article published on March 2013

Cornelia de Lange syndrome

article

Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage

scientific article

Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.

scientific article published on 17 April 2006

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

scientific article published on 01 March 1998

Genetic anticipation in Behçet's syndrome

scientific article published on January 1998

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

scientific article published in October 2006

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

scientific article published on 12 November 2012

Menkes disease: an X-linked neurological disorder of the copper metabolism

scientific article published on October 1, 1992

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

scientific article

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.

scientific article

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

scientific article

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

scientific article published on August 26, 2011

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

scientific article published on 01 October 2018

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

scientific article published on 01 August 2005

Early copper-histidine treatment for Menkes disease

scientific article published on 01 January 1996

A germline chromothripsis event stably segregating in 11 individuals through three generations.

scientific article

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

scientific article published in November 2004

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.

scientific article published on 02 December 2016

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

scientific article published on 01 March 1992

Breakpoints around the HOXD cluster result in various limb malformations.

scientific article published on 24 June 2005

An excess of chromosome 1 breakpoints in male infertility

article

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

scientific article published on 11 May 2016

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

scientific article published on 01 December 2010

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

scientific article published on 01 January 2005

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

scientific article published on 18 September 2014

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

scientific article

Recent Advances in Imprinting Disorders.

scientific article published on July 2016

Three new loci for determining x chromosome inactivation patterns.

scientific article

Splice site mutations in the ATP7A gene.

scientific article published on 11 April 2011

Clinical expression of Menkes disease in females with normal karyotype.

scientific article published on 22 January 2012

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

article

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.

scientific article published in October 1994

Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.

scientific article published on 27 July 2013

Metaphase FISH on a chip: miniaturized microfluidic device for fluorescence in situ hybridization

scientific article published on 2 November 2010

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

scientific article published on 23 May 2015

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

scientific article published on 28 January 2011

A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.

scientific article published on 28 January 2011

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

scientific article

List of works by Zeynep Tumer

A human phenome-interactome network of protein complexes implicated in genetic disorders

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Menkes disease

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

Cornelia de Lange syndrome

Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage

Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

Genetic anticipation in Behçet's syndrome

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up

Menkes disease: an X-linked neurological disorder of the copper metabolism

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Early copper-histidine treatment for Menkes disease

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

Breakpoints around the HOXD cluster result in various limb malformations.

An excess of chromosome 1 breakpoints in male infertility

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

Recent Advances in Imprinting Disorders.

Three new loci for determining x chromosome inactivation patterns.

Splice site mutations in the ATP7A gene.

Clinical expression of Menkes disease in females with normal karyotype.

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.

Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.

Metaphase FISH on a chip: miniaturized microfluidic device for fluorescence in situ hybridization

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care