Results 11 to 20 of about 109,616 (288)
Birth defects associated with paternal firefighting in the National Birth Defects Prevention Study
American Journal of Industrial Medicine, Volume 66, Issue 1, Page 30-40, January 2023., 2023 Abstract Background Few studies have evaluated birth defects among children of firefighters. We investigated associations between birth defects and paternal work as a firefighter compared to work in non‐firefighting and police officer occupations. Methods We analyzed 1997–2011 data from the multi‐site case‐control National Birth Defects Prevention ...
Miriam R. Siegel +7 more
wiley +1 more source
Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023 Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang +5 more
wiley +1 more source
Further characterization of NFIB‐associated phenotypes: Report of two new individuals
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023 Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella +8 more
wiley +1 more source
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023 Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld +9 more
wiley +1 more source
Prevalence of congenital heart defects in Europe, 2008–2015: A registry‐based study
Birth Defects Research, Volume 114, Issue 20, Page 1404-1416, December 1, 2022., 2022 Abstract Background The total prevalence of congenital heart defects (CHDs) varies by populations and over time. Studies that examine trends in the prevalence of CHD in different regions may shed light on our understanding of the occurrence of CHD and the impact of different risk factors.
Chrysovalanto Mamasoula +27 more
wiley +1 more source
Birth Defects Research, Volume 114, Issue 20, Page 1417-1426, December 1, 2022., 2022 Abstract Background Younger mothers are at a greater risk of having a pregnancy with gastroschisis and the risk is higher in the United Kingdom than other European countries. Gastroschisis is thought to be a vascular disruption anomaly and the aim of this study was to analyze the prevalence of other possible vascular disruption anomalies to determine ...
Joan K. Morris +27 more
wiley +1 more source
Mesenchymal stem cells: A novel treatment option for primary sclerosing cholangitis
Cell Biology International, Volume 47, Issue 2, Page 467-479, February 2023., 2023 Abstract Primary sclerosing cholangitis (PSC) is a progressive liver disease for which there is no effective therapy. Hepatocytes and cholangiocytes from a PSC patient were cocultured with mesenchymal stem cells (MSCs) to assess in vitro change. A single patient with progressive PSC was treated with 150 million MSCs via direct injection into the common
Amy L. Lightner +8 more
wiley +1 more source
Vibrant soundbridge implantation prior to auricular reconstruction with unilateral microtia‐atresia
Clinical Case Reports, 2021 We presented the first successful application of VSB implantation prior to auriculoplasty, which can provide hearing improvement in safe conditions and open new strategies for earlier hearing rehabilitation in unilateral microtia‐atresia children.
Hidekane Yoshimura +7 more
doaj +1 more source
Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]
, 2013 We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R +3 more
core +2 more sources
Hepatology, EarlyView., 2022 Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source