Anorektal malformasyonlu olgularda klinik deneyimimiz: 115 olgunun analizi [PDF]
, 2014 Objective: In this study, we aimed to evaluate our results on children with anorectal malformations (ARM) and associated anomalies. Methods: A total of 115 children who treated and followed in our clinic between 2000 and 2006 were retrospectively ...
Abdurrahman Önen +3 more
core +1 more source
CTNND1‐Related Disorder: New Insight on Prenatal Phenotype
American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.ABSTRACT CTNND1 is a gene located in 11q12.1, encoding for p120 catenin, a protein involved in maintaining adherent junctions, regulating the epithelial–mesenchymal transition, and transcriptional signaling of different cellular pathways. Pathogenic variants in CTNND1 are classically associated with isolated cleft palate and Blefaro‐cheilo‐dontic ...
B. Conti +12 more
wiley +1 more source
Isolated imperforate anus in dizygotic twins
Journal of Pediatric Surgery Case Reports, 2023 The authors report an isolated imperforate anus case in a dizygotic twin, which is the first reported case in the literature, the other reported cases were in monozygotic twins.
Dania Alameh +4 more
doaj
Single-Stage Repair versus Traditional Repair of High Anorectal Malformations, Functional Results’ Correlation with Kelly’s Score and Postoperative Magnetic Resonance Imaging Findings [PDF]
, 2015 Introduction: Posterior sagittal anorectoplasty (PSARP) is the standard treatment for anorectal malformations. In the present study, the clinical evaluation of anal continence was carried out using Kelly’s scoring system and the results of primary PSARP ...
Chowdhary, S +8 more
core +2 more sources
Associated Anomalies in Radial Ray Deficiency
American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.ABSTRACT Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co‐occurring with other, non‐RRD, congenital anomalies. The prevalence and the types of co‐occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co‐occurring congenital anomalies among cases
Claude Stoll +2 more
wiley +1 more source
Graded Lie Algebras of Maximal Class II [PDF]
arXiv, 1999 We describe the isomorphism classes of infinite-dimensional graded Lie algebras of maximal class, generated by elements of weight one, over fields of odd characteristic.
arxiv
Uncertainty-Aware Test Prioritization: Approaches and Empirical Evaluation [PDF]
arXiv, 2023 Complex software systems, e.g., Cyber-Physical Systems (CPSs), interact with the real world; thus, they often behave unexpectedly in uncertain environments. Testing such systems is challenging due to limited resources, time, complex testing infrastructure setup, and the inherent uncertainties in their operating environment.
arxiv
Fetal and perinatal implications of anomalies in the gastrointestinal tract and the abdominal wall [PDF]
, 2007 Studien tar for seg tilstandene gastroschise og omfalocele, som er forskjellige former for bukveggsdefekter samt utviklingsavvik som gir forsnevringer på ulike nivå i fordøyelseskanalen: spiserør (øsofagusobstruksjon), tolvfingertarm (duodenalobstruksjon)
Brantberg, Anne
core
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene [PDF]
, 2010 Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and
Aylsworth +20 more
core +4 more sources