Results 71 to 80 of about 65,497 (208)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Socio-demographic predictors and average annual rates of caesarean section in Bangladesh between 2004 and 2014.

PLoS ONE, 2017
BackgroundGlobally the rates of caesarean section (CS) have steadily increased in recent decades. This rise is not fully accounted for by increases in clinical factors which indicate the need for CS. We investigated the socio-demographic predictors of CS
Md Nuruzzaman Khan, M Mofizul Islam, Asma Ahmad Shariff, Md Mahmudul Alam, Md Mostafizur Rahman   +4 more
doaj   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Preterm birth trends and risk factors in a multi-ethnic Asian population: A retrospective study from 2017 to 2023, can we screen and predict this?

Annals, Academy of Medicine, Singapore
Introduction: Preterm birth (PTB) remains a leading cause of perinatal morbidity and mortality worldwide. Understanding Singapore’s PTB trends and associated risk factors can inform effective strategies for screening and intervention.
Rachel Phoy Cheng Chun, Hiu Gwan Chan, Gilbert Yong San Lim, Devendra Kanagalingam, Pamela Partana, Kok Hian Tan, Tiong Ghee Teoh, Ilka Tan   +7 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Does NICU Intervention Improve Survivability in Consanguineous Trisomy 13?

Journal of Rawalpindi Medical College, 2019
Patau Syndrome is a fatal autosomal trisomy ,usually seen because of Meiotic nondisjunction due to maternal advanced age. It is observed at a higher frequency in non-consanguineous union.
Hamza Ismaeel, Muhammad Nouman Rana, Armaghan Saeed   +2 more
doaj  

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Evaluation of the cytogenetical results of 4707 cases diagnosed with amniocentesis.

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2011
PURPOSE: Amniocentesis is a very crucial diagnostic procedure for preventing the birth of genetically defective fetuses in order to decrease the prevalence of genetic diseases in populations.
Ayfer Pazarbasi, Osman Demirhan, Deniz Tasdemir, Erdal Tunc, Fatma Tuncay Ozgunen, Davut Alptekin, Cuneyt Evruke, Cansun Demir, Mulkiye Kasap, Zeynep Karakan Karakas, Nihal Inandikoglu, Lutfiye Ozpak   +11 more
doaj  

Shifting Child Protection Assessments From a Deficit Focus to Assessments Informed by Strengths and Protective Factors: Translating Research Knowledge to Practice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Child protection systems play a critical role in preventing and responding to child maltreatment, yet practices are often predominantly deficit focused. This paper presents a rapid literature review on the strengths, protective factors, and cultural considerations to inform child protection assessment.
Gabrielle R. Hunt, Carmela Bastian, Luke Cantley, Ulrike Marwitz, Daryl J. Higgins   +4 more
wiley   +1 more source