Hans Christian Hennies
University of Huddersfield
Publications 145
#1Roswitha Plank (University of Huddersfield)H-Index: 2
#2Guy Yealland (FU: Free University of Berlin)H-Index: 4
Last.Marcelo Calderón (FU: Free University of Berlin)H-Index: 25
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#1Dulce Lima Cunha (University of Huddersfield)H-Index: 1
#2Omar M. Alakloby (UoD: University of Dammam)H-Index: 1
Last.Birgit Krabichler (Innsbruck Medical University)H-Index: 11
view all 17 authors...
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date. METHODS: Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. All patients were born to consanguineous parents and diagnosed ...
#1Dharshini Sathishkumar (Christian Medical College & Hospital)H-Index: 2
#2Dincy Peter (Christian Medical College & Hospital)H-Index: 3
Last.Vinzenz OjiH-Index: 23
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Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).
#1Sandra Ammann (University of Freiburg)H-Index: 9
#2Kai Lehmberg (UHH: University of Hamburg)H-Index: 25
Last.Ilka Fuchs (University of Freiburg)H-Index: 8
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We report our experience in using flow cytometry-based immunological screening prospectively as a decision tool for the use of genetic studies in the diagnostic approach to patients with hemophagocytic lymphohistiocytosis (HLH). We restricted genetic analysis largely to patients with abnormal immunological screening, but included whole exome sequencing (WES) for those with normal findings upon Sanger sequencing. Among 290 children with suspected HLH analyzed between 2010 and 2014 (including 17 a...
#1Vinzenz Oji (WWU: University of Münster)H-Index: 23
#2Marie-Luise PreilH-Index: 3
Last.Karola Stieler (Humboldt University of Berlin)H-Index: 8
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Ichthyoses are a group of rare genetic skin disorders that pose numerous clinical challenges, in particular with respect to the correct diagnosis and appropriate management. The present update of the German ichthyosis guidelines addresses recent diagnostic advances that have resulted in the Soreze consensus classification. In this context, we provide an updated diagnostic algorithm, taking into account clinical features as well as the molecular genetic basis of these disorders. Moreover, we high...
#1Michael Ng (University of Oxford)H-Index: 1
#2Dipti Thakkar (University of Oxford)H-Index: 3
Last.Ana Isabel Espirito-Santo (University of Oxford)H-Index: 1
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Individuals with Dupuytren disease (DD) are commonly seen by physicians and surgeons across multiple specialties. It is an increasingly common and disabling fibroproliferative disorder of the palmar fascia, which leads to flexion contractures of the digits, and is associated with other tissue-specific fibroses. DD affects between 5% and 25% of people of European descent and is the most common inherited disease of connective tissue. We undertook the largest GWAS to date in individuals with a surg...
#1Robert Gruber (Innsbruck Medical University)H-Index: 15
#2G. RainerH-Index: 1
Last.Matthias Schmuth (Innsbruck Medical University)H-Index: 38
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Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome-P450 family 4, encodes an epidermal ω-hydroxylase decisive in the formation of acylceramides, which is hypothesized to be crucial for skin-barrier function. We report a girl with consanguineous parents presenting as collodion baby with contractures of the great joints and palmoplantar hyperlinearity. In the course of the disease she developed fine scaling of the skin...
#1Kerstin Becker (University of Cologne)H-Index: 7
#2Juanjiangmeng Du (University of Cologne)H-Index: 2
Last.Hans Christian Hennies (Innsbruck Medical University)H-Index: 37
view all 4 authors...
The first genome-wide association study (GWAS) in Dupuytren disease (DD) has successfully identified nine genomic regions that harbor genetic variants contributing to the genetics of this disease. In GWASs common single nucleotide variants (SNVs) are investigated for association with a given trait or disease. These common SNVs are rarely the direct causative variants, but instead by chance, they capture the real causative variants in linkage disequilibrium (LD) at a given association locus. One ...