Results 211 to 220 of about 134,253 (304)

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

open access: yesClinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart   +17 more
wiley   +1 more source

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

open access: yesClinical Genetics, EarlyView.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in‐frame deletions and a less severe phenotype.
Elena Botta   +4 more
wiley   +1 more source

Objective assessment of patch test in metal allergy with a murine model of delayed type hypersensitivity

open access: green, 2007
Atsushi Takada   +4 more
openalex   +1 more source

Genetic Insights Into Allergic Contact Dermatitis: Reassessing the Role of LCE3C_LCE3B Deletion

open access: yesContact Dermatitis, EarlyView.
This study found no significant association between the LCE3C_LCE3B deletion and allergic contact dermatitis or polysensitisation in Tunisian patients, suggesting that other genetic or environmental factors may contribute to disease susceptibility. ABSTRACT Background Allergic contact dermatitis (ACD) is a multifactorial inflammatory skin disorder ...
Zeineb Ben Lamine   +10 more
wiley   +1 more source

Delayed hypersensitivity reaction to orodispersible budesonide in a case with eosinophilic esophagitis. [PDF]

open access: yesBMC Gastroenterol, 2020
Andrist CM   +5 more
europepmc   +1 more source

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