Results 191 to 200 of about 2,431,645 (337)

DHX37 variants in patients with 46,XY disorders or differences of sex development. [PDF]

Hum Genome Var
Katoh-Fukui Y, Saito D, Narumi H, Hattori A, Igarashi M, Uehara E, Shima H, Kanno J, Hasegawa Y, Horikawa R, Nagasaki K, Fukami M.   +11 more
europepmc   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer, Frauke Stascheit, Maximilian Mönch, Paolo Doksani, Carla Dusemund, Meret Herdick, Philipp Mergenthaler, Maike Stein, Amani Suboh, Jutta Schröder‐Braunstein, Guido Wabnitz, Jan D. Lünemann, Sophie Lehnerer, Sarah Hoffmann, Andreas Meisel   +14 more
wiley   +1 more source

Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives. [PDF]

Prenat Diagn
Dingle M, Aufox S, Johnson EK, Dungan JS, Clark A, Abihider K, Weisman AG.   +6 more
europepmc   +1 more source

46,XX Differences of Sex Development [PDF]

, 2020
openaire   +1 more source

Changes in Immune‐Inflammation Status and Acute Ischemic Stroke Prognosis in Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Inflammation is a critical risk factor for poor outcomes in cerebral infarction. Prior studies focused primarily on baseline inflammation status, neglecting dynamic longitudinal changes. We try to investigate the association between immune‐inflammation status alterations and stroke prognosis, and evaluated three systemic biomarkers'
Songfang Chen, Wenting Huang, Yitian Liu, Xuan Chen, Buyu Ke, Qian Shen, Hanyu Cai, Jing Sun, Yan Li, Yungang Cao, Beilei Hu, Keyang Chen   +11 more
wiley   +1 more source

Germ cell and other tumors in individuals with differences in sex development. [PDF]

CA Cancer J Clin
Witchel SF, Reyes-Múgica M.
europepmc   +1 more source

The Role of Prenatal Microglial Activation and Its Sex Differences in the Development of Neuropsychiatric Disorders and Neurodegenerative Diseases [PDF]

Alexander Sergeevich Lyamtsev, A. V. Sentyabreva, А. М. Косырева   +2 more
openalex   +1 more source

Supplementary Material for: WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease

, 2021
Ferrari M.T.M., Andréia Watanabe, daSilva T.E., Gomes N.L., Batista R.L., Nishi M.Y., dePaula L.C.P., Costa E.C., Costa E.M.F., Priscilla Cukier, Onuchic L.F., Mendonca B.B., Sorahia Domenice   +12 more
openalex   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

A novel variant leads to WT1-related nephrotic syndrome and differences of sex development: a case report. [PDF]

Front Pediatr
Gao S, Wang D, Ding X, Bai C, Nie N, Chang H, Zhang R, Liu J, Zhang Q, Liu L, Lin Y.   +10 more
europepmc   +1 more source