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https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#1
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29681090/williams-beuren-syndrome-in-diverse-populations
#2
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D Gill, Alec P Boyle, Tommy Hu, Yonit A Addissie, Gary T K Mok, Cedrik Tekendo-Ngongang, Karen Fieggen, Eloise J Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho-Ming Luk, Ivan F M Lo, Meow-Keong Thong, Premala Muthukumarasamy, Kelly L Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M Girisha, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Monisha S Kisling, Carlos R Ferreira, María Beatriz de Herreros, Ni-Chung Lee, Saumya S Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen-Min, Neerja Gupta, Stephanie Lotz-Esquivel, Ramsés Badilla-Porras, Dalia Farouk Hussen, Mona O El Ruby, Engy A Ashaat, Siddaramappa J Patil, Leah Dowsett, Alison Eaton, A Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H Y Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A Kozel, Mieke M van Haelst, Roger E Stevenson, Marshall Summar, A Adebowale Adeyemo, Colleen A Morris, Danilo Moretti-Ferreira, Marius George Linguraru, Maximilian Muenke
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29659143/rasopathies-are-associated-with-a-distinct-personality-profile
#3
Varoona Bizaoui, Jessica Gage, Rita Brar, Katherine A Rauen, Lauren A Weiss
Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls...
April 16, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29644236/hypertrophic-cardiomyopathy-with-a-large-apical-ventricular-aneurysm-and-mural-thrombus
#4
Munis Raza, Nagib Chalfoun, Abdallah Wissam, Hamza Hashmi, Richard McNamara
Hypertrophic cardiomyopathy (HCM) is characterized by increased left ventricular wall thickness in the absence of any other identifiable cause of thickness. It predisposes the patient to increased risk of sudden cardiac death (SCD) due to fatal arrhythmias. Approximately 2% of the HCM patients have left ventricular apical aneurysm. CMR imaging is better in identifying this apical aneurysm as compared to echocardiogram. This apical aneurysm, which can be akinetic or dyskinetic, increases the risk of disease-related adverse events as compared to general HCM...
March 14, 2018: Global Cardiology Science & Practice
https://www.readbyqxmd.com/read/29568691/consistent-hypersocial-behavior-in-mice-carrying-a-deletion-of-gtf2i-but-no-evidence-of-hyposocial-behavior-with-gtf2i-duplication-implications-for-williams-beuren-syndrome-and-autism-spectrum-disorder
#5
Loren A Martin, Erica Iceberg, Gabriel Allaf
Introduction: Williams-Beuren syndrome (WBS) is a developmental disorder caused by hemizygous deletion of human chromosome 7q11.23. Hypersocial behavior is one symptom of WBS and contrasts with hyposociality observed in autism spectrum disorder (ASD). Interestingly, duplications of 7q11.23 have been associated with ASD. The social phenotype of WBS has been linked to GTF2I or general transcription factor IIi ( TFII-I ). Duplication of GTF2I has also been associated with ASD. Methods: We compared mice having either a deletion ( Gtf2i +/- ) or duplication ( Gtf2i +/dup ) of Gtf2i to wild-type ( Gtf2i +/+ ) littermate controls in a series of behavioral tasks including open-field activity monitoring, olfactory probes, a social choice task, social transmission of food preference, habituation-dishabituation, and operant social motivation paradigms...
January 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29554110/epigallocatechin-3-gallate-improves-cardiac-hypertrophy-and-short-term-memory-deficits-in-a-williams-beuren-syndrome-mouse-model
#6
Paula Ortiz-Romero, Cristina Borralleras, Mònica Bosch-Morató, Biuse Guivernau, Guillermo Albericio, Francisco J Muñoz, Luis A Pérez-Jurado, Victoria Campuzano
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. The complete deletion (CD) mouse model mimics the most common deletion found in WBS patients and recapitulates most neurologic features of the disorder along with some cardiovascular manifestations leading to significant cardiac hypertrophy with increased cardiomyocytes' size. Epigallocatechin-3-gallate (EGCG), the most abundant catechin found in green tea, has been associated with potential health benefits, both on cognition and cardiovascular phenotypes, through several mechanisms...
2018: PloS One
https://www.readbyqxmd.com/read/29550276/a-novel-dntp-limited-pcr-and-hrm-assay-to-detect-williams-beuren-syndrome
#7
Lichen Zhang, Xiaoqing Zhang, Guoling You, Yongguo Yu, Qihua Fu
BACKGROUND: Williams-Beuren syndrome (WBS) is caused by a microdeletion of chromosome arm 7q11.23. A rapid and inexpensive genotyping method to detect microdeletion on 7q11.23 needs to be developed for the diagnosis of WBS. This study describes the development of a new type of molecular diagnosis method to detect microdeletion on 7q11.23 based upon high-resolution melting (HRM). METHODS: Four genes on 7q11.23 were selected as the target genes for the deletion genotyping...
March 14, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29501665/elastin-driven-genetic-diseases
#8
REVIEW
Maria Laura Duque Lasio, Beth A Kozel
Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa)...
February 28, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29498532/minoxidil-improves-vascular-compliance-restores-cerebral-blood-flow-and-alters-extracellular-matrix-gene-expression-in-a-model-of-chronic-vascular-stiffness
#9
Russell Knutsen, Scott C Beeman, Thomas J Broekelmann, Delong Liu, Kit Man Tsang, Attila Kovacs, Li Ye, Joshua Danback, Anderson Watson, Amanda Wardlaw, Jessica Wagenseil, Joel R Garbow, Michael Shoykhet, Beth A Kozel
Increased vascular stiffness correlates with higher risk of cardiovascular complications in aging adults. Elastin insufficiency, as observed in patients with Williams-Beuren syndrome or with familial supravalvular aortic stenosis, also increases vascular stiffness and leads to arterial narrowing. We used Eln+/- mice to test the hypothesis that pathologically increased vascular stiffness with concomitant arterial narrowing leads to decreased blood flow to end organs such as the brain. We also hypothesized that drugs which remodel arteries and increase lumen diameter would improve flow...
March 2, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29274148/oral-findings-in-williams-beuren-syndrome
#10
S-B-P Ferreira, M-M Viana, N-G-F Maia, L-L Leão, R-A Machado, R-D Coletta, M-J-B de Aguiar, H Martelli-Júnior
BACKGROUND: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. MATERIAL AND METHODS: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography...
January 1, 2018: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29246395/cardiac-arrest-related-to-anaesthesia-in-williams-beuren-syndrome
#11
J Lucena Delgado, P Sanabria Carretero, P Durán la Fuente, A Gónzalez Rocafort, L Castro Parga, F Reinoso Barbero
Williams-Beuren syndrome is the clinical manifestation of a congenital genetic disorder in the elastin gene, among others. There is a history of cardiac arrest refractory to resuscitation manoeuvres in anaesthesia. The incidence of myocardial ischaemia is high during anaesthetic induction, but there are patients who do not have this condition yet also have had very serious cardiac events, and issues that are still to be resolved. Case descriptions will enable the common pathophysiological factors to be defined, and decrease morbidity and mortality...
December 12, 2017: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29193944/-atypical-deletions-in-williams-beuren-syndrome
#12
Azubel Ramírez-Velazco, Ma Guadalupe Domínguez-Quezada
The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. This deletion is caused by a nonallelic homologous recombination (NAHR) between low copy repeats present therein. The SWB phenotype is characterized by neonatal hypercalcemia, mental disability, distinctive personality and cognitive profile, short stature, dysmorphic facies, connective tissue disorders and supravalvular aortic stenosis...
September 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#13
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29128445/the-promise-of-induced-pluripotent-stem-cells-for-neurodevelopmental-disorders
#14
REVIEW
Katrin Linda, Carol Fiuza, Nael Nadif Kasri
A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29066944/a-polymer-physics-investigation-of-the-architecture-of-the-murine-orthologue-of-the-7q11-23-human-locus
#15
REVIEW
Andrea M Chiariello, Andrea Esposito, Carlo Annunziatella, Simona Bianco, Luca Fiorillo, Antonella Prisco, Mario Nicodemi
In the last decade, the developments of novel technologies, such as Hi-C or GAM methods, allowed to discover that chromosomes in the nucleus of mammalian cells have a complex spatial organization, encompassing the functional contacts between genes and regulators. In this work, we review recent progresses in chromosome modeling based on polymer physics to understand chromatin structure and folding mechanisms. As an example, we derive in mouse embryonic stem cells the full 3D structure of the Bmp7 locus, a genomic region that plays a key role in osteoblastic differentiation...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29053727/impaired-glucose-metabolism-in-subjects-with-the-williams-beuren-syndrome-a-five-year-follow-up-cohort-study
#16
Maria Elena Lunati, Maria Francesca Bedeschi, Veronica Resi, Valeria Grancini, Eva Palmieri, Simona Salera, Faustina Lalatta, Giuseppe Pugliese, Emanuela Orsi
OBJECTIVE: The Williams-Beuren syndrome (WS) is associated with impaired glucose metabolism (IGM) early in adulthood. However, the pathophysiology of IGM remains poorly defined, due to the lack of longitudinal studies investigating the contribution of β-cell dysfunction and impaired insulin sensitivity. This study aimed at assessing incidence of IGM and the underlying mechanisms in WS adults. METHODS: This observational, longitudinal (5-year), cohort study enrolled thirty-one consecutive WS subjects attending a tertiary referral center...
2017: PloS One
https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#17
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28979292/drosophila-model-for-the-analysis-of-genesis-of-lim-kinase-1-dependent-williams-beuren-syndrome-cognitive-phenotypes-indels-transposable-elements-of-the-tc1-mariner-superfamily-and-micrornas
#18
Elena V Savvateeva-Popova, Aleksandr V Zhuravlev, Václav Brázda, Gennady A Zakharov, Alena N Kaminskaya, Anna V Medvedeva, Ekaterina A Nikitina, Elena V Tokmatcheva, Julia F Dolgaya, Dina A Kulikova, Olga G Zatsepina, Sergei Y Funikov, Sergei S Ryazansky, Michail B Evgen'ev
Genomic disorders, the syndromes with multiple manifestations, may occur sporadically due to unequal recombination in chromosomal regions with specific architecture. Therefore, each patient may carry an individual structural variant of DNA sequence (SV) with small insertions and deletions (INDELs) sometimes less than 10 bp. The transposable elements of the Tc1/mariner superfamily are often associated with hotspots for homologous recombination involved in human genetic disorders, such as Williams Beuren Syndromes (WBS) with LIM-kinase 1-dependent cognitive defects...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28889126/chromosomal-microarray-analysis-in-fetuses-with-growth-restriction-and-normal-karyotype-a-systematic-review-and-meta-analysis
#19
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras
OBJECTIVE: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). METHODS: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included...
September 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28878606/major-contribution-of-genomic-copy-number-variation-in-syndromic-congenital-heart-disease-the-use-of-mlpa-as-the-first-genetic-test
#20
Rejane A C Monteiro, Mariana L de Freitas, Gabrielle S Vianna, Valdirene T de Oliveira, Rafaella X Pietra, Luana C A Ferreira, Patrícia P O Rocha, Michele da S Gonçalves, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Juliana F Mazzeu, Fernanda S Jehee
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD...
August 2017: Molecular Syndromology
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