Results 121 to 130 of about 268,628 (304)

SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype

Italian Journal of Pediatrics
Background Balanced chromosomal rearrangements (BCRs) are common structural variations (SVs), but only a small number of individuals with BCRs exhibit abnormalities. To better understand the different phenotypes in children diagnosed with BCRs during the
Shengfang Qin, Xueyan Wang, Chun Chen, Jin Wang, Zhuo Zhang, Yan Yin, Xiangyou Leng   +6 more
doaj   +1 more source

Prenatal ultrasound diagnosis of poland syndrome [PDF]

, 2004
D'ARMIENTO, MARIA, MARTINELLI, PASQUALE, PALADINI, DARIO   +2 more
core   +1 more source

FASD and Intellectual Disability Equivalence: A Meta‐Analysis of Suggestibility During Forensic Interviews

Behavioral Sciences &the Law, EarlyView.
ABSTRACT Intellectual disability (ID) equivalence describes conditions in which individuals function cognitively and adaptively at levels comparable to ID without meeting IQ‐based diagnostic criteria. Fetal alcohol spectrum disorder (FASD) is characterised by impaired executive and adaptive functioning despite IQs often above the ID threshold ...
David J. Gilbert, Stephen Ikechukwu Azumara, Jacqueline M. Wheatcroft, Karen Steele, Penny Cook, Raja Mukherjee, Gisli Gudjonsson, Natalie Novick Brown   +7 more
wiley   +1 more source

Structural and Functional Imaging of Motor Outcomes in Twins With Perinatal Stroke: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Perinatal arterial ischemic stroke (AIS) affects 1 in 4000 live births. Dystonia, affecting ~20% of children following AIS, is characterized by involuntary muscle contractions and abnormal movements. Why some develop dystonia post AIS, while others do not, remains unclear.
Prisca Hsu, Trish Domi, Cecilia Jobst, Min Sheng, Amanda Robertson, Erum Syed, Pradeep Krishnan, Douglas Cheyne, Nomazulu Dlamini   +8 more
wiley   +1 more source

Pre-implantation genetic diagnosis in Hong Kong [PDF]

, 2003
This paper presents the first two successful cases of pre-implantation genetic diagnosis in Hong Kong and discusses the indications and the advantages over prenatal diagnosis.
Ho, PC, Lau, ETK, Lau, EYL, Ng, EHY, Tang, MHY, Yeung, WSB   +5 more
core  

Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley   +1 more source

A Right to Choose?: Sex Selection in the International Context [PDF]

, 2007
While there is some debate among doctors, ethicists, and the general public about the level of medical necessity that should justify a sex-selection procedure, most accept that sex selection for medical reasons is beyond ethical reproach, and in some ...
Bumgarner, Ashley
core   +1 more source

Association of Neurodevelopmental Disorders and Congenital Anomalies With Prenatal Multiple Sclerosis Treatment—Real‐World Historical Cohort Study

Clinical Pharmacology &Therapeutics, EarlyView.
There is a paucity of data regarding the effects of prenatal disease‐modifying therapies (DMTs) for multiple sclerosis (MS), on congenital anomalies in the offspring. Moreover, data on the association with neurodevelopmental disorders are lacking. This is an historical cohort study, within the Israeli Clalit Health Services database (2005–2024) that ...
Bar Rosh, Ofek Levi, Nili Stein, Amir Yahav, Naomi Gronich   +4 more
wiley   +1 more source

Obstetrical aspects in congenital ichtyosis [PDF]

, 2016
We present a case of congenital ichthyosis because obstetrical literature is scarce and most obstetricians could need a reminder and update. Congenital ichthyosis (CI) comprises a variety of skin disorders characterised by abnormal keratinization of the ...
Dehaene, Isabelle, Page, Ann-Sophie, Page, Geert   +2 more
core  

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source