Icons / Logo / Facebook Created with Sketch. Icons / Logo / Google Created with Sketch. Icons / Logo / ORCID Created with Sketch. Branding/Logomark minus Citation Combined Shape Icon/Bookmark-empty Icon/Copy Icon/Collection Icon/Close Copy 7 no author result Created with Sketch. Icon/Back Created with Sketch. Match!
Hans Christian Hennies
University of Huddersfield
Publications 145
Published on May 1, 2019in Journal of Investigative Dermatology 6.29
Roswitha Plank2
Estimated H-index: 2
(University of Huddersfield),
Guy Yealland4
Estimated H-index: 4
(FU: Free University of Berlin)
+ 9 AuthorsMarcelo Calderón25
Estimated H-index: 25
(FU: Free University of Berlin)
Published on Mar 1, 2019in Molecular Genetics & Genomic Medicine
Dulce Lima Cunha1
Estimated H-index: 1
(University of Huddersfield),
Omar M. Alakloby1
Estimated H-index: 1
(UoD: University of Dammam)
+ 14 AuthorsBirgit Krabichler11
Estimated H-index: 11
(Innsbruck Medical University)
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 ...
Published on Dec 30, 2018in Case reports in dermatological medicine
Dharshini Sathishkumar2
Estimated H-index: 2
(Christian Medical College & Hospital),
Dincy Peter3
Estimated H-index: 3
(Christian Medical College & Hospital)
+ 5 AuthorsVinzenz Oji23
Estimated H-index: 23
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).
Published on Nov 1, 2017in Journal of Clinical Immunology 4.13
Sandra Ammann9
Estimated H-index: 9
(University of Freiburg),
Kai Lehmberg25
Estimated H-index: 25
(UHH: University of Hamburg)
+ 9 AuthorsIlka Fuchs8
Estimated H-index: 8
(University of Freiburg)
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...
Vinzenz Oji23
Estimated H-index: 23
(WWU: University of Münster),
Marie-Luise Preil3
Estimated H-index: 3
+ 20 AuthorsKarola Stieler8
Estimated H-index: 8
(Humboldt University of Berlin)
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...
Published on Sep 1, 2017in American Journal of Human Genetics 9.92
Michael Ng1
Estimated H-index: 1
(University of Oxford),
Dipti Thakkar3
Estimated H-index: 3
(University of Oxford)
+ 12 AuthorsAna Isabel Espirito-Santo1
Estimated H-index: 1
(University of Oxford)
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...
Published on Apr 1, 2017in British Journal of Dermatology 6.71
Robert Gruber15
Estimated H-index: 15
(Innsbruck Medical University),
G. Rainer1
Estimated H-index: 1
+ 9 AuthorsMatthias Schmuth38
Estimated H-index: 38
(Innsbruck Medical University)
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...
Published on Jan 1, 2017
Kerstin Becker7
Estimated H-index: 7
(University of Cologne),
Juanjiangmeng Du2
Estimated H-index: 2
(University of Cologne)
+ 1 AuthorsHans Christian Hennies37
Estimated H-index: 37
(Innsbruck Medical University)
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 ...