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

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement 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, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source

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

, 2000
Leanne Moynihan, Andrew P. Jackson, Emma Roberts, Gulshan Karbani, Ian Lewis, Peter Corry, G Turner, Robert F. Mueller, Nicholas Lench, C. Geoffrey Woods   +9 more
openalex   +1 more source

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

Movement 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, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk   +21 more
wiley   +1 more source

Mid-Line Cleft Lip and Palate with Hydranencephaly and Microcephaly

, 1964
B Gans
openalex   +1 more source

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

Prenatal 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, Clarence Ong, Ching Yee Chan, Kee Thai Yeo, Wei Yee Wan, Jerry Kok Yen Chan, Wei Ching Tan, Lay Kok Tan, Pamela Palasanthiran, Yi Wang, Liying Yang   +10 more
wiley   +1 more source

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

, 2000
Nicolette S. den Hollander, Marja W. Wessels, Frans J. Los, N. T. C. Ursem, Martinus F. Niermeijer, J. W. Wladimiroff   +5 more
openalex   +1 more source

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

Pediatric 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, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +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

Ultrasound 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, D. L. Rolnik, S. Allen, A. Sotiriadis, S. Ong, S. Sonner, G. V. Blayney, M. Fernando, T. van Mieghem, A. Borrell, S. Langlois, F. Mone, Collaborators, A. Khalil, U. Agarwal, S. Nanda, K. W. Choy, Y. Yaron, R. J. Martinez‐Portilla, F. R. Grati, E. Westenius, E. Iwarsson, K. O. Kagan, R. Pooh   +23 more
wiley   +1 more source

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

Andrology, 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, Gao Yuyang, Xu Wenli, Li Wenyan, Liu Zhen, Zhou Jiayuan, Zhu Jun, Dai Li   +7 more
wiley   +1 more source

Autosomal dominant microcephaly---lymphoedema-chorioretinal dysplasia syndrome [PDF]

, 2001
Ingele Casteels
openalex   +1 more source