Results 61 to 70 of about 128,890 (256)

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

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

Molecular Genetics & Genomic Medicine, 2019
Background The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy.
Gorazd Rudolf, Luca Lovrečić, Nataša Tul, Nataša Teran, Borut Peterlin   +4 more
doaj   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

Congenital anomalies in Baghdad children born near US military burn-pits: A case-control study showing tungsten and chromium association with increased odds of disease

Hygiene and Environmental Health Advances
Increases in congenital anomalies were reported from Iraq post-2003. We investigated associations of residential proximity to two US military bases – Camp Victory and Base Falcon – and metal levels in hair samples of children with congenital anomalies ...
M. Savabieasfahani, F．Basher Ahamadani, Ban Talib Fadhel   +2 more
doaj   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

The Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara, Silvio Pires Gomes, Fabio Cesar Magioli Abdala, Bruno Cesar Schimming, Maria Angelica Miglino   +4 more
wiley   +1 more source

THE RISK FACTORS AND FREQUENCY OF CONGENITAL ANOMALIES IN NEONATES BORN AFTER ASSISTED REPRODUCTIVE TECHNIQUE IN BAGHDAD

The Iraqi Journal of Medical Sciences, 2018
Background: Assisted reproductive technique (ART) has helped couples all over the world. There have already been over 3,500,000 births resulting from ART, and with falling fertility in some countries.
Deia K. Khalaf
doaj   +6 more sources

Drug‐Induced Raynaud's Phenomenon and Underlying Mechanism: A Disproportionality Analysis From the World Health Organization Pharmacovigilance Database

Arthritis &Rheumatology, EarlyView.
Objectives The aim of this study is to generate hypotheses about unknown drugs associated with the onset or worsening of Raynaud's phenomenon (RP) and to explore their potential pathophysiologic mechanisms through a mixed disproportionality/clustering analysis from the World Health Organization (WHO) pharmacovigilance database.
Alex Hlavaty, Loubna Dari, Jean‐Luc Cracowski, Matthieu Roustit, Charles Khouri   +4 more
wiley   +1 more source

Evaluation of Fetal Congenital Anomalies After 23 Weeks of Gestation: Clinical Analysis of 444 Cases

Gynecology Obstetrics & Reproductive Medicine, 2011
OBJECTIVE: In this study it is objected to identify the frequency and distribution of congenital anomalies in babies born at Selçuk University Meram Medical School, Department of Obstetrics and Gynecology.
Kazım Gezginç, Rengin Karataylı, Fatma Yazıcı, Mehmet Sait İçen, Ali Acar   +4 more
doaj