List of works - Jens M Hertz

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

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

scientific article

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

scientific article

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

scientific article published on 01 January 1995

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

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

scientific article published in September 2014

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

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

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

scientific article published on 25 April 2013

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

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

scientific article published on 31 July 2018

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

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

scientific article published on 17 June 2016

Moebius sequence -a multidisciplinary clinical approach

scientific article published on 06 January 2017

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

scientific article published on 9 May 2017

Ichthyosis with Confetti Inherited from a Mosaic Father

scientific article published on 23 August 2017

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

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

scientific article published on 01 January 1988

Hereditary spastic paraplegia type 8 - neuropathological findings.

scientific article published on 9 February 2017

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

Biallelic variants in GLE1 with survival beyond neonatal period

scientific article published on 20 September 2020

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

scientific article published on 18 August 2020

DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

scientific article published on 07 June 2017

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

article

Admixture of maternal metaphases in first trimester direct chromosome preparations?

scientific article published on 01 September 1986

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

List of works by Jens M Hertz

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

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

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

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

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

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

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

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

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

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

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

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

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

Moebius sequence -a multidisciplinary clinical approach

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

Ichthyosis with Confetti Inherited from a Mosaic Father

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.

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

Hereditary spastic paraplegia type 8 - neuropathological findings.

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

Biallelic variants in GLE1 with survival beyond neonatal period

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

DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

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

Admixture of maternal metaphases in first trimester direct chromosome preparations?

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