Population record
· 50 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Population | “METHODS: Thirteen patients from 11 unrelated families were clinically suspected, for whom biochemical evaluation and screening of pathogenic CTNS gene mutations were performed.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Here, we report the identification of seven distinct variants in BLOC1S1 in 11 individuals from seven independent families presenting with early psychomotor delay, hypotonia, spasticity, epileptic encephalopathy, optic atrophy, and leuko-axonopathy with hypomyelination.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “OBJECTIVES: This study aimed to investigate the frequency and nature of sequence variants in BRCA1 exons 11 and 20 and BRCA2 exon 11 in a Sudanese cohort, and to determine whether these established mutational hotspots harbor recurrent pathogenic variants in this underrepresented population.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: This observational retrospective case series included 11 adult cochlear implant recipients (15 implanted ears) with defined etiologies: head trauma/temporal bone fracture (5 ears), post-meningitis deafness (5 ears), and cochlear ossification or otosclerosis (5 ears).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Of the 11 patients who underwent HSCT, 8 (73%) remain alive with a median follow-up of 7 years (range, 1-15), and most demonstrated resolution of clinical manifestations.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “The cardinal clinical features of UGGT1-CDG involve developmental delay, intellectual disability, seizures, characteristic facial features, and microcephaly in the majority (9/11 affected individuals for whom measurements were available).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Based on these datasets, the phylogenetic relationships covering all classes and most orders have been thoroughly reconstructed and investigated, resulting in the establishment of 93 new supraspecies taxa comprising two classes (Mesodiniea and Protocruziea), two subclasses (Protohypotrichia and Synhymenia), two orders (Wilbertomorphida and Lynnellida), 11 families, and 76 genera.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: This study included 11 children (6 boys and 5 girls; median age 15 years) with 13 pathologically proven HCAs.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: We retrospectively analyzed data from 11 consecutive pediatric patients (63.64% male, median age 60 months) who underwent Berlin Heart implantation from November 2021 to April 2025.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: This retrospective study was conducted on 11 patients with SSD implantations between 2015 and 2018 at a tertiary center.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Using family-based rare variant analyses of exome sequencing (ES) data and case matching through GeneMatcher, we describe the clinical phenotypes of 11 additional individuals in eight unrelated families (nine unrelated families, 14 individuals in total) with biallelic putative truncating variants in WDR83OS.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Fifty-five FFPE tissues from 11 RCC patients were included in this study.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Here, we recorded neuronal activity in the CM nucleus in 11 patients prior to insertion of deep brain stimulation electrodes for the treatment of epilepsy while subjects performed an auditory attention task.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Exome or genome sequencing was carried out in 11 families.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Here, we present 11 new patients and clinical updates with biochemical characterization on one previously reported patient.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In a case control study, qPCR and western blot analyses were used to quantify gene and protein expression in the SNpc of post-mortem brains (n = 14 late-stage PD and 11 age and sex matched controls).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In the 11 patients who received anti-angiogenic tyrosine kinase inhibitors (TKIs), HVN was associated with a trend of shorter progression free survival.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In detail, 11 patients (19 affected eyes) did not experience further ocular inflammation after ADA introduction; 10 cases (17 affected eyes) showed a significant clinical improvement consisting of a decrease in severity and/or frequency of ocular relapses.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: A total of 13 studies (2 RCTs and 11 cohort studies), involving 861 patients, were included in the meta-analysis.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Here, we identify biallelic variants in two components of the RAD18-SLF1/2-SMC5/6 genome stability pathway, SLF2 and SMC5, in 11 patients with microcephaly, short stature, cardiac abnormalities and anemia.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “During comprehensive evaluations of individuals with NF1, we encountered 11 patients with dual diagnosis who contributed to phenotypic complexity and challenges for long-term management.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In our retrospective study of 11 patients, 8-9.6 mg/kg was adequate to maintain chimerism in six patients.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “There were no deaths related to RSV infection; however 11 patients died due to causes unrelated to RSV infection.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Methods and Results Peripheral blood ECFCs were isolated from 11 subjects (45% men, aged 27±5 years) using Ficoll density gradient centrifugation.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “To the best of our knowledge, only 11 confirmed cases of purely appendiceal IMT have been published in the literature to date.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “The 11 amphipod individuals included for analyses were dominated by Psychromonas, of which a nearly complete genome was successfully recovered (designated CDP1).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: Thirteen patients from 11 families, who were aged 7 to 63 years (mean: 32.1 years) at their first examination with presumed compound heterozygous (6/13 patients) or homozygous (7/13 patients) C2orf71 mutations were identified.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 individuals with JS from 8 families, accounting for approximately 1% of the disorder.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “At diagnosis, 11 patients had ESRD.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “CASE PRESENTATION: We describe an 11 year old male Polish patient with a de novo nonsense mutation in CTNNB1 who in addition to the major features of CTNNB1-related syndrome including intellectual disability and microcephaly, exhibited hyperekplexia and apraxia of upward gaze.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “TNF-α -308 G > A (rs1800629) Polymorphism is Associated with Celiac Disease: A Meta-analysis of 11 Case-Control Studies.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “OBJECTIVES: The aim of this study was to explore whether the recent finding of G534E genetic variant can be replicated in a large sample of NMTC, including 11 members of four unrelated families with familial NMTC and 509 cases of sporadic pediatric (63 cases) and adult NMTC (446 cases).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “After the first rotation, 11 patients had no further arrhythmias, and 4 patients had a reduction of their arrhythmia to unsustained minor arrhythmias that did not require cessation of the treatment.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “ZNF469 sequencing in 11 keratoconus families identified 9 rare (minor allele frequency [MAF] ≤ 0.025) variants predicted to be potentially damaging.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “There were 11 cases (16.2%) of intrauterine growth restriction (95% confidence interval [CI]: 7.2-25.2), and 19 cases of fetal distress (27.9%; 95% CI: 17.0-38.9).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Only 11 patients with LARGE mutations have been reported.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “A retrospective analysis was performed in 11 patients with leukocyte adhesion deficiency type 1 who underwent HSCT and monitoring over a period of 19 years at our institution.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: The study included 19 eyes of 11 patients with age equal to or less than eighteen years with exudative retinal diseases including type I DM (n = sixteen eyes), Coats' disease (n = 2 eyes), and due to myopic CNV (n = 1 eye).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “A total of 11 patients with sertoli cell-only syndrome (SCOS) and 5 oligospermic patients with gr/gr subdeletions also have DAZ1/DAZ2 genes deleted indicating that deletions of DAZ genes contributed differently to damage to spermatogenic process.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In this study, we describe 11 asymptomatic non-Hmong patients brought to medical attention by elevated C5-carnitine found by newborn screening and one discovered because of clinical symptoms.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: Twenty-one eyes of 11 male patients with ocular Behçet disease received adalimumab therapy.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In total, 11 consecutive pediatric patients with Griscelli syndrome (GS) type 2, who received allogeneic hematopoietic SCT (aHSCT) at our center between 1993 and 2007, were reviewed.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Only two patients with a CVP of < or = 5 mmHg had a blood transfusion whereas 11 patients with a CVP > 5 mmHg required transfusion.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Later, another 11 patients were randomly selected to give the combination for 48 weeks.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “The remaining 11 patients underwent endoscopic retrograde cholangiopancreatography (ERCP), sphincterotomy, and stone extraction followed by laparoscopic cholecystectomy (LC).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “I investigated 11 cases of hand-foot syndrome, three of which were associated with Salmonella osteomyelitis.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Cultured skin fibroblasts from 11 patients with non-Hodgkin's lymphoma (NHL), 3 with ataxia telangiectasia (AT), 3 AT heterozygotes and 6 healthy subjects were studied for impaired colony-forming ability upon chronic exposure to gamma-radiation.” | 0.80 | saudi_context_rules_v1 |