Results 241 to 250 of about 395,077 (304)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Relative Distribution of DnaA and DNA in Escherichia coli Cells as a Factor of Their Phenotypic Variability. [PDF]

Int J Mol Sci
Namboodiri SK, Aranovich A, Hadad U, Gheber LA, Feingold M, Fishov I.   +5 more
europepmc   +1 more source

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria. [PDF]

Mol Genet Metab Rep
Sultan R, Urlacher J, Athey T, Kannu P, Seres P, Mercimek-Andrews S.   +5 more
europepmc   +1 more source

Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review. [PDF]

Front Neurol
Zhao Y, Lu Y, Wang F, Wang Y, Li Y, Sun R, Shang J, Jiang C, Zhang J.   +8 more
europepmc   +1 more source

<i>CTLA4</i> Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review. [PDF]

Genes (Basel)
Genio E, Lecca M, Ciccocioppo R, Errichiello E.   +3 more
europepmc   +1 more source

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for <i>SLCO2A1</i> variants. [PDF]

JBMR Plus
Arcanjo AM, de Souza AF, de Souza Quedas EP, de Menezes Correia-Deur JE, Ferreira DL, de Almeida Toledo SP, Lourenço DM.   +6 more
europepmc   +1 more source

Phenotypic variability of plant architecture, easy destemming, and yield for accelerated selection for mechanical harvestability in chile pepper. [PDF]

Sci Rep
Khokhar ES, Lozada DN, Khan MI, Nourbakhsh SS.   +3 more
europepmc   +1 more source