Results 91 to 100 of about 18,812 (235)

Microdeletion syndromes and psychiatry: An update

, 2017
SummaryMicrodeletion syndrome is an important topic in intellectual disability, associated with various psychiatric symptoms, such as autism, attention deficit, hyperactivity, obsession and compulsion, and psychosis.
Roger C. M. Ho, Zhang, Melvyn W.B., Beng Yeong Ng, Fong, Nikki, Quek, Ying Hui, Ho, Cyrus S.H., Melvyn W. B. Zhang, Ying Hui Quek, Ng, Beng Yeong, Ho, Roger C.M., Cyrus S. H. Ho, Nikki Fong   +11 more
core   +1 more source

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion

, 2022
(1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagnoses from 1 ...
Ken Cheng, Ruibin Huang, Yang, Xin, Yu, Qiuxia, Wang, You, You Wang, Fang Fu, Dongzhi Li, Hang Zhou, Zhou, Hang, Cheng, Ken, Huang, Ruibin, Xin Yang, Fu, Fang, Lei, Tingying, Li, Dongzhi, Qiuxia Yu, Tingying Lei, Can Liao, Liao, Can   +19 more
core   +1 more source

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang, Meng Meng, Fengyu Wu, Jianping Chen, Fenhe Zhou, Yuchun Ge, Ya Xing, Xinyao Zhou, Gang Zou   +8 more
wiley   +1 more source

Number of TACS designed on critical microdeletion/microduplication regions and on reference chromosomes.

, 2017
Number of TACS designed on critical microdeletion/microduplication regions and on reference chromosomes.
Kyriakos Tsangaras (585075), Achilleas Achilleos (835724), Philippos C. Patsalis (780512), Carolina Sismani (3601283), Maria C. Neofytou (3716716), Petros Mina (780509), Charalambos Loizides (3716707), George Koumbaris (3716710), Marios Ioannides (780511), Elena Kypri (3716719), Anna Keravnou (3716713)   +10 more
core   +1 more source

Characterization of a novel microdeletion polymorphism on BTA5 in cattle [PDF]

, 2008
We present a detailed breakpoint mapping and population frequency analysis of a 214-kb microdeletion that removes multiple olfactory receptor genes.
VAN TASSELL, C. P., G. E. Liu, L. K. Matukumalli, SONSTEGARD, T. S., T. S. Sonstegard, C. P. Van Tassell, LIU, G. E., LI, R. W., SILVA, M. V. G. B., M. V. G. B. Silva, R. W. Li, MATUKUMALLI, L. K.   +11 more
core   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source

Energetic dysregulations in psychotic disorders: Targets for new therapeutics

The FEBS Journal, EarlyView.
The present review synthesizes literature documenting aberrant energy production and use, specifically related to mitochondrial and redox dysregulation, in psychotic disorders. Findings from different levels of investigation—genetic, cellular, and in vivo imaging—converge on aberrant energy metabolism as a hallmark of psychotic disorders.
Jacey Anderson, Kai‐Christian Sonntag, Thao Do Vy Le, Kaitlin Shannon, Chao Wang, Fei Du, Xi Chen, Donna McPhie, Dost Ongur, Bruce Cohen, Virginie‐Anne Chouinard   +10 more
wiley   +1 more source

Feasibility of Functional Near‐Infrared Spectroscopy in Assessing Prefrontal Cortical Activation During Behaviour Inhibition in Williams Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Williams syndrome (WS) is a genetic condition associated with neurodevelopmental disorders including intellectual disability and executive functioning (EF) deficits. Although neuroimaging methods may clarify the neural basis of these impairments, participant burden and frequent exclusion of individuals with lower cognitive abilities
Emma E. Condy, Maeve Sargeant, Audrey Thurm, Mark Levin, Amir Gandjbakhche, Beth A. Kozel   +5 more
wiley   +1 more source

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22

, 2019
The 16p12.2 chromosome band contains three large segmental duplications: BP1, BP2 and BP3, providing a substrate for recombination and recurrent chromosomal rearrangements. The ‘16p12.2 microdeletion’ is a recurrent deletion comprised between BP2 and BP3,
Fiorio, Patrizia, Gimelli, Giorgio, Tassano, Hasa, Ronchetto, Patrizia, Capra, Valeria, Calcagno, Annalisa, Scala, Marcello   +6 more
core   +1 more source