Results 241 to 250 of about 79,932 (302)

From Genomics to Precision Cardiology: A Comprehensive Review of Clinical Applications and Challenges in Cardiovascular Diseases. [PDF]

Clin Cardiol
Mohsen-Pour N, Esmaeili S, Feyzi A, Sharafi A, Maleki M, Kalayinia S.   +5 more
europepmc   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey. [PDF]

Arthritis Care Res (Hoboken)
Day-Lewis M, Cheng JL, Behrens E, Hazen MM, Janssen EM, Lee PY, Vogel TP, Volpi S, Cooper MA, Canna SW, Henderson LA.   +10 more
europepmc   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

NONcNZO10/LtJ and TALLY-HO/JngJ Mice as Novel Models of Diabetic Peripheral Neuropathy. [PDF]

FASEB J
Eid SA, Carter AD, Koubek EJ, Hayes JM, Rigan DM, Kiriluk C, Pacut CM, O'Brien PD, Park J, Jang DG, Feldman EL.   +10 more
europepmc   +1 more source

A genetic and historical perspective on the origins of keratitis fugax hereditaria

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the genetic and genealogical background of keratitis fugax hereditaria (KFH), a periodic corneal disease caused by the heterozygous pathogenic variant c.61G>C in the NLRP3 gene. KFH is characterized by recurrent unilateral autoinflammatory attacks alternating between the eyes and permanent corneal opacities.
Annamari T. Immonen, Sara P. Luostarinen, Päivi Lahermo, Sabita Kawan, Kati Donner, Joseph D. Terwilliger, Michael P. Backlund, Joni A. Turunen   +7 more
wiley   +1 more source

Meiotic recombination observed through preimplantation genetic testing for two X-linked conditions: first reported case in humans. [PDF]

F S Rep
Iversen A, Gerber SK, Chamanara S, Verma K, Adelson SM, Yang C, Tise CG.   +6 more
europepmc   +1 more source

A novel homozygous <i>CREB3L3</i> variant associated with severe hypertriglyceridaemia: a case report. [PDF]

Eur Heart J Case Rep
Kalkan I, Girón GO, Jaspers E, Vilahur G, Twickler TB.   +4 more
europepmc   +1 more source

Discordance between disease activity and long-term outcomes in DNASE1L3 deficiency: a multicentre longitudinal cohort study. [PDF]

Lupus Sci Med
Abdwani R, Al Abrawi S, Aljaberi N, Alsakiti K, Al Shimli S, Mal M, Al Jashmi R, Al Masroori E, Al-Zakwani I.   +8 more
europepmc   +1 more source

Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum. [PDF]

World J Clin Pediatr
Thangaraj A, Aggarwal R, Sarkar S, Pilania RK.   +3 more
europepmc   +1 more source