Results 151 to 160 of about 67,934 (330)
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders
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]
Leanne Moynihan+9 more
openalex +1 more source
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
Mid-Line Cleft Lip and Palate with Hydranencephaly and Microcephaly
B Gans
openalex +1 more source
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]
Nicolette S. den Hollander+5 more
openalex +1 more source
Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients
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
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
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
Autosomal dominant microcephaly---lymphoedema-chorioretinal dysplasia syndrome [PDF]
Ingele Casteels
openalex +1 more source