Results 151 to 160 of about 67,934 (330)

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

open access: yesMovement Disorders, EarlyView.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath   +17 more
wiley   +1 more source

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34 [PDF]

open access: bronze, 2000
Leanne Moynihan   +9 more
openalex   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

open access: yesMovement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg   +21 more
wiley   +1 more source

Single‐Step Universal First‐Trimester Cytomegalovirus Screening and Valacyclovir Prophylaxis in Pregnancy: A Cost‐Utility Analysis in a High Seroprevalence Setting

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the cost‐effectiveness of first trimester single‐step universal cytomegalovirus (CMV) serological screening with valacyclovir as vertical transmission prophylaxis versus routine ultrasound‐directed testing. Methods A payer perspective cost‐utility analysis was conducted on a hypothetical population of 100,000 pregnant ...
Zhi Zhen Lim   +10 more
wiley   +1 more source

Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance [PDF]

open access: green, 2000
Nicolette S. den Hollander   +5 more
openalex   +1 more source

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

open access: yesPediatric Investigation, EarlyView.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li   +10 more
wiley   +1 more source

Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data

open access: yesUltrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objectives To evaluate: (i) the performance of the National Health Service (NHS) phenotypic eligibility criteria for prenatal exome sequencing (pES); (ii) the diagnostic yield of individual NHS criteria; (iii) the diagnostic yield when one or multiple NHS criteria were met; and (iv) the performance of the NHS criteria compared with that of ...
K. Reilly   +23 more
wiley   +1 more source

Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020

open access: yesAndrology, EarlyView.
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy