List of works - Jens M Hertz

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

scientific article

A Patient with Cubilin Deficiency ⬇️

scientific article published on January 6, 2011

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

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

scientific article published on 01 January 1995

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

scientific article published on 12 April 2019

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

scientific article

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia

scientific article published in September 2014

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

scientific article

Admixture of maternal metaphases in first trimester direct chromosome preparations?

scientific article published on 01 September 1986

Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

scientific article

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

scientific article published on 02 August 2013

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

scientific article published in November 2007

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

Association between periacetabular osteotomy and hip dysplasia among relatives: a cross-sectional study

scientific article published on 31 July 2018

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

scientific article published in 2014

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

scientific article

Biallelic variants in GLE1 with survival beyond neonatal period

scientific article published on 20 September 2020

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

scientific article published on 01 June 2000

Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968-2009.

scientific article published on 9 May 2017

Clinical utility gene card for: Alport syndrome

scientific article

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

scientific article published on 12 November 2014

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

scientific article

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

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

scientific article published in Scientific Reports

DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

scientific article published on 07 June 2017

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

scientific article

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

scientific article published on 01 August 2001

Eating behavior, prenatal and postnatal growth in Angelman syndrome

scientific article published on 26 July 2014

Endocrine function in 97 patients with myotonic dystrophy type 1

scientific article published on 17 February 2012

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

scientific article

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

scientific article published on 17 June 2016

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

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

scientific article

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

scientific article published on 11 April 2018

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

scientific article published on 01 March 1993

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

scientific article published on 07 October 2011

Hereditary spastic paraplegia type 8 - neuropathological findings.

scientific article published on 9 February 2017

Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load.

scientific article

Ichthyosis with Confetti Inherited from a Mosaic Father

scientific article published on 23 August 2017

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

scientific article

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

scientific article published in May 2005

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

scientific article

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome

scientific article published on 18 August 2020

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

scientific article

Moebius sequence -a multidisciplinary clinical approach

scientific article published on 06 January 2017

Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

scientific article published on 15 February 2013

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

scientific article published on 01 March 1993

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

scientific article (publication date: 2014)

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations

scientific article published on 19 March 2014

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

scientific article published on 28 May 2014

Non-disjunction of chromosome 18

scientific article published on 01 April 1998

Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia.

scientific article

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

scientific article

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

scientific article published on 01 September 1998

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

scientific article published in March 2009

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

scientific article published on 01 January 1988

Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017)

article

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

Quaternary epitopes of α345(IV) collagen initiate Alport post-transplant anti-GBM nephritis

scientific article published on 25 April 2013

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

scientific article published on 9 October 2012

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

scientific article published on October 1, 1992

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

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

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype

scientific article published on 01 January 2008

The Danish HD Registry-a nationwide family registry of HD families in Denmark.

scientific article published on 2 February 2017

The association between gender and familial prevalence of hip dysplasia in Danish patients

scientific article published on 3 February 2017

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

scientific article

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

scientific article published on 09 February 2017

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

scientific article published on 28 August 2007

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

scientific article published on 01 January 2005

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

scientific article

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)

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

scientific article published on 28 May 2008

List of works by Jens M Hertz

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

A Patient with Cubilin Deficiency ⬇️

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

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

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

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia

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

Admixture of maternal metaphases in first trimester direct chromosome preparations?

Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

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

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

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

Association between periacetabular osteotomy and hip dysplasia among relatives: a cross-sectional study

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

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

Biallelic variants in GLE1 with survival beyond neonatal period

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

Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968-2009.

Clinical utility gene card for: Alport syndrome

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

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

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

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

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

Eating behavior, prenatal and postnatal growth in Angelman syndrome

Endocrine function in 97 patients with myotonic dystrophy type 1

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

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

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

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

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

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

Hereditary spastic paraplegia type 8 - neuropathological findings.

Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load.

Ichthyosis with Confetti Inherited from a Mosaic Father

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

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

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

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome

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

Moebius sequence -a multidisciplinary clinical approach

Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

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

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

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations

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

Non-disjunction of chromosome 18

Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia.

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

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

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017)

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

Quaternary epitopes of α345(IV) collagen initiate Alport post-transplant anti-GBM nephritis

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

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

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

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

Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype

The Danish HD Registry-a nationwide family registry of HD families in Denmark.

The association between gender and familial prevalence of hip dysplasia in Danish patients

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

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

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

Transcriptional regulator PRDM12 is essential for human pain perception

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

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

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

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