Results 141 to 150 of about 3,078 (183)

Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze. [PDF]

Cureus
Nagarajan DR, Mani Jacob D, Kakade S.
europepmc   +1 more source

Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy. [PDF]

JCEM Case Rep
Resnick O, Ashraf A.
europepmc   +1 more source

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China. [PDF]

Pathophysiology
Lang GT, Weng XL, Liu Y, Hu X, Shao ZM, Hu Z.   +5 more
europepmc   +1 more source

Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with a <i>de novo GNAO1</i> variant and a 16p13.11 microdeletion. [PDF]

Front Pediatr
Liu X, Luo R, Wang J, Chen X, Deng Y.
europepmc   +1 more source

ABCC6 Out From the Cold: Identification of the ABCC6 Substrate as a Therapy for Pseudoxanthoma Elasticum and Cardiovascular Disease.

Austin journal of pharmacology and therapeutics
Eugenia T, Prescott, Imran N, Mungrue
openaire   +1 more source

Genetic elastic fiber disorders as neurovascular syndromes: An emerging perspective. [PDF]

Neural Regen Res
Jiménez-Altayó F.
europepmc   +1 more source

Early pharmacological blockade of the CXCL12-CXCR4 axis attenuates vertebral hypercalcification in a zebrafish model of pseudoxanthoma elasticum. [PDF]

Biochem Biophys Rep
Sun J, Huang J, Zhang R, Zhang S, Zhong TP, Zhu P.   +5 more
europepmc   +1 more source

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies. [PDF]

Genes (Basel)
Harford D, Conway M, Moran B, Zhu J, Turner J, Dockery A, O'Byrne JJ, Flitcroft DI, Burke T, Stephenson KAJ, Farrar GJ, Keegan DJ.   +11 more
europepmc   +1 more source

A male patient with pseudoxanthoma elasticum caused by isodisomy of chromosome 16 containing a nonsense variant of the <i>ABCC6</i> gene: A quarter-century treatment experience. [PDF]

Atheroscler Plus
Wakasa M, Nakagawa C, Takamura TA, Fujibayashi K, Akao H, Kitayama M, Shimizu A, Niida Y, Kajinami K.   +8 more
europepmc   +1 more source