List of works - Jens M Hertz

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

scientific article (publication date: October 2003)

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

scientific article

Non-disjunction of chromosome 18

scientific article published on 01 April 1998

A Patient with Cubilin Deficiency

scientific article published on January 6, 2011

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

scientific article published on 9 October 2012

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

scientific article (publication date: 2014)

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease

scientific article published in April 2006

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

scientific article published in May 2005

Clinical utility gene card for: Alport syndrome

scientific article

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene

scientific article

Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation

scientific article published on 07 October 2011

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

scientific article

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

scientific article published on October 1, 2001

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

scientific article published on 28 May 2008

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

scientific article

Clinical utility gene card for: Alport syndrome - update 2014.

scientific article published on 12 November 2014

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

scientific article published on 01 March 1993

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

scientific article published in Scientific Reports

Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

scientific article

A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans

scientific article

Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics.

scientific article published on 28 May 2014

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

scientific article published on 01 January 1997

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

scientific article

Endocrine function in 97 patients with myotonic dystrophy type 1

scientific article published on 17 February 2012

Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

scientific article published on 02 August 2013

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q

scientific article published on October 1, 1992

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

scientific article published on 01 September 1998

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

scientific article

Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia.

scientific article published in November 2007

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

scientific article published on 01 August 2001

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations

scientific article published on 19 March 2014

A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.

scientific article published on 28 July 2011

Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population

scientific article published on 01 June 2000

Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

scientific article published on 15 February 2013

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

scientific article published in 2014

Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation

scientific article

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

scientific article

Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

scientific article published on 12 May 2010

Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

scientific article

Eating behavior, prenatal and postnatal growth in Angelman syndrome

scientific article published on 26 July 2014

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

scientific article published on 24 December 2016

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

scientific article published on 01 March 1993

The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.

scientific article published on 28 August 2007

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

scientific article published on 09 February 2017

Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9].

scientific article published on 11 January 2016

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

scientific article published in March 2009

Establishment of a pig fibroblast-derived cell line for locus-directed transgene expression in cell cultures and blastocysts.

scientific article published on 25 March 2010

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

scientific article

List of works by Jens M Hertz

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

Transcriptional regulator PRDM12 is essential for human pain perception

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Non-disjunction of chromosome 18

A Patient with Cubilin Deficiency

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Clinical utility gene card for: Alport syndrome

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene

Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Clinical utility gene card for: Alport syndrome - update 2014.

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans

Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics.

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

Endocrine function in 97 patients with myotonic dystrophy type 1

Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia.

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations

A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.

Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population

Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

Eating behavior, prenatal and postnatal growth in Angelman syndrome

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9].

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

Establishment of a pig fibroblast-derived cell line for locus-directed transgene expression in cell cultures and blastocysts.

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation