Results 231 to 240 of about 1,171,015 (370)

Improved Motor Function in Cervical Spinal Cord Injury Following Spinal Cord Stimulation. [PDF]

open access: yesClin Case Rep
Suarez M   +5 more
europepmc   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

Complications after medullary thyroid carcinoma surgery: multicentre study of the SQRTPA and EUROCRINE® databases

open access: yesBJS (British Journal of Surgery), EarlyView., 2020
This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek   +18 more
wiley   +1 more source

Cervicomedullary Spinal Cord Injury. [PDF]

open access: yesJ Orthop Case Rep
King N   +5 more
europepmc   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

Spexin in the European sea bass, Dicentrarchus labrax: Characterization, brain distribution, and interaction with Gnrh and Gnih neurons

open access: yesJournal of Comparative Neurology, Volume 531, Issue 2, Page 314-335, February 2023., 2023
The main objective of this work was to obtain detailed information on the distribution and localization of the spexin (Spx) system in the sea bass brain. To this purpose, we first identified and characterized the spx1 gene and analyzed its expression in the central nervous system (CNS) of the European sea bass by using quantitative Real‐Time Polymerase
José A. Paullada‐Salmerón   +2 more
wiley   +1 more source

Comparison of Spinal Cord Regeneration Capacity in Zebrafish and Medaka. [PDF]

open access: yesNeurochem Res
Aoki S   +4 more
europepmc   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy