Results 71 to 80 of about 19,213 (227)
Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Dermatologica Sinica, 2018 Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák +4 more
doaj +1 more source
Bullae and Scales in a Newborn
JEADV Clinical Practice, EarlyView.
Hamad El Hajj +3 more
wiley +1 more source
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1
International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia +11 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Journal of Dermatology and Dermatologic Surgery, 2016 Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj +1 more source
Targeting matriptase in breast cancer abrogates tumour progression via impairment of stromal-epithelial growth factor signalling. [PDF]
, 2015 Matriptase is an epithelia-specific membrane-anchored serine protease that has received considerable attention in recent years because of its consistent dysregulation in human epithelial tumours, including breast cancer.
Bergum, Christopher +11 more
core +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis
Nepal Journal of Dermatology, Venereology & LeprologyLamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar +2 more
doaj +1 more source
A case of ichthyosis hystrix: Unusual manifestation of this rare disease
Indian Journal of Dermatology, 2014 Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas +5 more
doaj +1 more source
Ichthyosis uteri with dysplasia - A case report
Indian Journal of Pathology and Microbiology, 2020 Ichthyosis uterus is an uncommon condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. This condition most commonly develops secondary to longstanding cervical obstruction or chronic inflammation.
Chitrawati B Gargade +1 more
doaj +1 more source