Results 141 to 150 of about 2,873 (186)

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

Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy. [PDF]

Invest Ophthalmol Vis Sci
Martins PM, Figueiredo I, Cruz N, Gaspar BR, Silva R, Carvalho AL, Marques JP.   +6 more
europepmc   +1 more source

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications. [PDF]

Medicine (Baltimore)
Xu T, Yue F, Ge Y, Liu R.
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

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification. [PDF]

Int J Mol Sci
Burykina Y, Chudakova D, Zharova O, Basargina E, Silnova I, Sdvigova N, Gandaeva L, Davydova Y, Kaverina V, Zhanin I, Pushkov A, Fisenko A, Savostyanov K.   +12 more
europepmc   +1 more source

Acute zonal occult outer retinopathy complex and angioid streaks: a case report. [PDF]

Int J Ophthalmol
Liu ZY, Zhang H, Sun XL, Peng XY.
europepmc   +1 more source

Arterial stiffness is related to a higher risk of cardiovascular events in patients with pseudoxanthoma elasticum (PXE). [PDF]

Vasc Med
Haverkamp M, de Jong PA, Visseren FL, Spiering W.   +3 more
europepmc   +1 more source

Familial Annular Erythema Effectively Responded to Phototherapy: A Case Report of an Extremely Rare Entity and Literature Review. [PDF]

Case Rep Dermatol
Alhawsawi W, Nukaly H, Jfri A, Al-Luhaibi RS, Aljarallah A, Fageeh SM, Al Hawsawi K.   +6 more
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