Results 181 to 190 of about 57,194 (288)

Correction: Comparative Safety of Antipsychotic Medications and Mood Stabilizers During Pregnancy: A Systematic Review and Network Meta-analysis of Congenital Malformations and Prenatal Outcomes. [PDF]

CNS Drugs
Wang E, Liu Y, Wang Y, Han X, Zhou Y, Zhang L, Tang Y.   +6 more
europepmc   +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

Abdominopelvic computed tomography during pregnancy and the risk of congenital malformations: protocol for a nationwide population-based cohort study in South Korea. [PDF]

BMJ Open
Hwang J, Cho J, Kim HY, Lee S, Jung YM, Lee KH, Park JH.   +6 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Prenatal MRI features of fetal complete agenesis of the corpus callosum associated with unilateral hemispheric cortical malformation: a retrospective study. [PDF]

Front Radiol
Lin H, Wang X, Wang C, Li G, Li X.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

<i>MGRN1</i> is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans. [PDF]

J Med Genet
Kasak L, Rull K, Valkna A, Laan M.
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Mechanically Regulated Nanozymes for Remote Metabolic Reprogramming and Precise Cancer Therapy

Angewandte Chemie, EarlyView.
Inspired by mechanoenzymes, a ferrocene‐based mechanically regulated nanozyme converts acoustic shear force into enhanced peroxidase‐like activity by decreasing electron density and alleviating steric hindrance at the Fe active sites, thereby rewiring redox homeostasis. Leveraging this remote regulatory mechanism, a multienzyme‐regulated nanoreactor is
Fangman Chen, Xiaochun Xie, Hanyao Huang, Ka Hong Wong, Jiying Liu, Hui Fang, Shaowen Wang, Jianfang Cao, Yu Tao, Mingqiang Li, Chao Yang, Wen Sun, Dan Shao, Yunlu Dai   +13 more
wiley   +2 more sources

Congenital Pulmonary Airway Malformations in Children: Beyond the Pulmonary Cystic Lesion Is There Really an Associated Laryngo-Tracheal Abnormality? [PDF]

Pediatr Pulmonol
Bulfamante AM, Pierucci UM, Imbrogno G, Leon LAO, Pelizzo G.   +4 more
europepmc   +1 more source