10 Result(s)
within
Jens Michael Hertz
English
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Article
Open AccessWhole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip
Developmental dysplasia of the hip (DDH) is a common condition involving instability of the hip with multifactorial etiology. Early diagnosis and treatment are critical as undetected DDH is an important cause ...
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Open AccessDetection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and li...
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Article
Open AccessSkewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women
Mosaicism in blood varies with age, and cross-sectional studies indicate that for women, skewness of X-chromosomal mosaicism increases with age. This pattern could, however, also be due to less X-inactivation ...
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Article
Open AccessA 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
Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically het...
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Article
Open AccessDNA hypermethylation and differential gene expression associated with Klinefelter syndrome
Klinefelter syndrome (KS) has a prevalence ranging from 85 to 250 per 100.000 newborn boys making it the most frequent sex chromosome aneuploidy in the general population. The molecular basis for the phenotypi...
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Open AccessMoebius sequence –a multidisciplinary clinical approach
Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co...
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Open AccessThe 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
An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protei...
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Article
Open AccessOdonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation
Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the...
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Article
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Nat. Genet. 47 803–808 (2015); published online 25 May 2015; corrected after print 8 July 2015 In the version of this article initially published, there was an error with the affiliations for author Roman Chra...
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Open AccessDetailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12
