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Molecular Genetics & Genomic Medicine

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https://www.readbyqxmd.com/read/27896289/how-who-and-when-preferences-for-delivery-of-genome-sequencing-results-among-women-diagnosed-with-breast-cancer-at-a-young-age
#1
Kimberly A Kaphingst, Jennifer Ivanovich, Ashley Elrick, Rebecca Dresser, Cindy Matsen, Melody S Goodman
BACKGROUND: The increasing use of genome sequencing with patients raises a critical communication challenge: return of secondary findings. While the issue of what sequencing results should be returned to patients has been examined, much less attention has been paid to developing strategies to return these results in ways that meet patients' needs and preferences. To address this, we investigated delivery preferences (i.e., who, how, when) for individual genome sequencing results among women diagnosed with breast cancer at age 40 or younger...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896288/ultrastructure-of-early-amelogenesis-in-wild-type-amelx-and-enam-mice-enamel-ribbon-initiation-on-dentin-mineral-and-ribbon-orientation-by-ameloblasts
#2
Charles E Smith, Yuanyuan Hu, Jan C-C Hu, James P Simmer
INTRODUCTION: Dental enamel is comprised of highly organized, oriented apatite crystals, but how they form is unclear. METHODS: We used focused ion beam (FIB) scanning electron microscopy (SEM) to investigate early enamel formation in 7-week-old incisors from wild-type, Amelx(-/-), and Enam(-/-) C56BL/6 mice. FIB surface imaging scans thicker samples so that the thin enamel ribbons do not pass as readily out of the plane of section, and generates serial images by a mill and view approach for computerized tomography...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896287/enamel-ribbons-surface-nodules-and-octacalcium-phosphate-in-c57bl-6-amelx-mice-and-amelx-lyonization
#3
Yuanyuan Hu, Charles E Smith, Zhonghou Cai, Lorenza A-J Donnelly, Jie Yang, Jan C-C Hu, James P Simmer
BACKGROUND: Amelogenin is required for normal enamel formation and is the most abundant protein in developing enamel. METHODS: Amelx(+/+), Amelx(+/-) , and Amelx(-/-) molars and incisors from C57BL/6 mice were characterized using RT-PCR, Western blotting, dissecting and light microscopy, immunohistochemistry (IHC), transmission electron microscopy (TEM), scanning electron microscopy (SEM), backscattered SEM (bSEM), nanohardness testing, and X-ray diffraction. RESULTS: No amelogenin protein was detected by Western blot analyses of enamel extracts from Amelx(-/-) mice...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#4
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896285/rare-variants-in-optic-disc-area-gene-card10-enriched-in-primary-open-angle-glaucoma
#5
Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, Owen M Siggs, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Robert J Casson, John Landers, Richard Mills, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Kathryn P Burdon, Jamie E Craig
BACKGROUND: Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG. METHODS: Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896284/analyses-of-more-than-60-000-exomes-questions-the-role-of-numerous-genes-previously-associated-with-dilated-cardiomyopathy
#6
Nina Nouhravesh, Gustav Ahlberg, Jonas Ghouse, Charlotte Andreasen, Jesper H Svendsen, Stig Haunsø, Henning Bundgaard, Peter E Weeke, Morten S Olesen
BACKGROUND: Hundreds of genetic variants have been described as disease causing in dilated cardiomyopathy (DCM). Some of these associations are now being questioned. We aimed to identify the prevalence of previously DCM associated variants in the Exome Aggregation Consortium (ExAC), in order to identify potentially false-positive DCM variants. METHODS: Variants listed as DCM disease-causing variants in the Human Gene Mutation Database were extracted from ExAC. Pathogenicity predictions for these variants were mined from dbNSFP v 2...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896283/a-potential-founder-variant-in-carmil2-rltpr-in-three-norwegian-families-with-warts-molluscum-contagiosum-and-t-cell-dysfunction
#7
Hanne S Sorte, Liv T Osnes, Børre Fevang, Pål Aukrust, Hans C Erichsen, Paul H Backe, Tore G Abrahamsen, Ole B Kittang, Torstein Øverland, Shalini N Jhangiani, Donna M Muzny, Magnus D Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H C Akdemir, Richard A Gibbs, Olaug K Rødningen, Robert Lyle, James R Lupski, Asbjørg Stray-Pedersen
BACKGROUND: Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelming, disseminated and/or persistent, and presenting together with other immunological features, a primary immunodeficiency disease (PIDD) may be suspected. METHODS AND RESULTS: The four patients were exome sequenced as part of a larger study for detecting genetic causes of primary immunodeficiencies...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#8
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896281/genetics-and-genomic-medicine-in-morocco-the-present-hope-can-make-the-future-bright
#9
Khadija Belhassan, Karim Ouldim, Abdel Aziz Sefiani
Genetics and genomic medicine in Morocco: the present hope can make the future bright.
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896280/genetic-hearing-loss-the-journey-of-discovery-to-destination-how-close-are-we-to-therapy
#10
Arti Pandya
No abstract text is available yet for this article.
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652284/targeted-sequencing-of-351-candidate-genes-for-epileptic-encephalopathy-in-a-large-cohort-of-patients
#11
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, Ruben Van't Slot, Isaac J Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies, Ingo Helbig, Rik Hendrickx, Moine Kanaan, Uri Kramer, Anna-Elina E Lehesjoki, Johannes R Lemke, Carla Marini, Davide Mei, Rikke S Møller, Manuela Pendziwiat, Hannah Stamberger, Arvid Suls, Sarah Weckhuysen, Bobby P C Koeleman
BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation. METHODS: To increase the number of validated EE genes, we sequenced 26 known and 351 candidate genes for EE in 360 patients. Variants in 25 genes known to be involved in EE or related phenotypes were followed up in 41 patients...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652283/a-novel-de-novo-tbx5-mutation-in-a-patient-with-holt-oram-syndrome-leading-to-a-dramatically-reduced-biological-function
#12
Martina Dreßen, Harald Lahm, Armin Lahm, Klaudia Wolf, Stefanie Doppler, Marcus-André Deutsch, Julie Cleuziou, Jelena Pabst von Ohain, Patric Schön, Peter Ewert, Ivan Malcic, Rüdiger Lange, Markus Krane
BACKGROUND: The Holt-Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15-month-old patient being investigated for strict diagnostic criteria of HOS. METHODS AND RESULTS: Genetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents. TBX5 belongs to the large family of T-box transcription factors playing major roles in morphogenesis and cell-type specification...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652282/the-prevalence-and-distribution-of-the-amyloidogenic-transthyretin-ttr-v122i-allele-in-africa
#13
Daniel R Jacobson, Alice A Alexander, Clement Tagoe, W T Garvey, Scott M Williams, Sara Tishkoff, David Modiano, Sodiomon B Sirima, Issa Kalidi, Amadou Toure, Joel N Buxbaum
BACKGROUND: Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I). The allele frequency is 0.0173 in African Americans. METHODS: PCR-based assays to genotype 2767 DNA samples obtained from participants in genetic studies from various African populations supplemented with sequencing data from 529 samples within the 1000 Genomes Project...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652281/adgrl3-lphn3-variants-are-associated-with-a-refined-phenotype-of-adhd-in-the-mta-study
#14
Maria T Acosta, James Swanson, Annamarie Stehli, Brooke S G Molina, Ariel F Martinez, Mauricio Arcos-Burgos, Maximilian Muenke
BACKGROUND: ADHD is the most common neuropsychiatric condition affecting individuals of all ages. Long-term outcomes of affected individuals and association with severe comorbidities as SUD or conduct disorders are the main concern. Genetic associations have been extensively described. Multiple studies show that intronic variants harbored in the ADGRL3 (LPHN3) gene are associated with ADHD, especially associated with poor outcomes. METHODS: In this study, we evaluated this association in the Multimodal Treatment Study of children with ADHD (MTA), initiated as a 14-month randomized clinical trial of 579 children diagnosed with DSM-IV ADHD-Combined Type (ADHD-C), that transitioned to a 16-year prospective observational follow-up, and 289 classmates added at the 2-year assessment to serve as a local normative comparison group (LNCG)...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652280/founder-mutation-in-kcnj10-in-pakistani-patients-with-east-syndrome
#15
Ola Abdelhadi, Daniela Iancu, Mehmet Tekman, Horia Stanescu, Detlef Bockenhauer, Robert Kleta
BACKGROUND: EAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly associated with patients of Pakistani origin. As a result we aimed to establish the existence of a potential founder effect in the Pakistani population. METHODS: To this end, we genotyped 12 patients from seven families and we compared disease haplotypes with ethnically matched control chromosomes...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652279/population-specific-single-nucleotide-polymorphism-confers%C3%A2-increased-risk-of-venous-thromboembolism-in-african-americans
#16
Roxana Daneshjou, Larisa H Cavallari, Peter E Weeke, Konrad J Karczewski, Katarzyna Drozda, Minoli A Perera, Julie A Johnson, Teri E Klein, Carlos D Bustamante, Dan M Roden, Christian Shaffer, Joshua C Denny, James L Zehnder, Russ B Altman
INTRODUCTION: African Americans have a higher incidence of venous thromboembolism (VTE) than European descent individuals. However, the typical genetic risk factors in populations of European descent are nearly absent in African Americans, and population-specific genetic factors influencing the higher VTE rate are not well characterized. METHODS: We performed a candidate gene analysis on an exome-sequenced African American family with recurrent VTE and identified a variant in Protein S (PROS1) V510M (rs138925964)...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652278/concordance-between-whole-exome-sequencing-and-clinical-sanger-sequencing-implications-for-patient-care
#17
Alison Hamilton, Martine Tétreault, David A Dyment, Ruobing Zou, Kristin Kernohan, Michael T Geraghty, Taila Hartley, Kym M Boycott
The clinical translation of next-generation sequencing has created a paradigm shift in the diagnostic assessment of individuals with suspected rare genetic diseases. Whole-exome sequencing (WES) simultaneously examines the majority of the coding portion of the genome and is rapidly becoming accepted as an efficient alternative to clinical Sanger sequencing for diagnosing genetically heterogeneous disorders. Among reports of the clinical and diagnostic utility of WES, few studies to date have directly compared its concordance to Sanger sequencing, which is considered the clinical "gold standard"...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652277/genetics-and-genomic-medicine-in-the-philippines
#18
Carmencita D Padilla, Eva Maria Cutiongco-de la Paz
Genetics and genomic medicine in the Philippines.
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27652276/mentors-without-borders
#19
Maximilian Muenke
Mentors without Borders is a proposed international mentoring network that allows trainee geneticists to identify mentors from a list of volunteers who are not at one's own institution. It is an experiment, a matchmaker between a junior and a senior professional. These mentors do not replace the mentors at the home institution but allow the mentee, if desired, to identify mentors outside of their own institution. We envision that different ways of communicating and/or different mentor-mentee relationships may prove beneficial to the trainee and the mentor...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27468422/the-effect-of-parental-age-on-the-presence-of-de-novo-mutations-lessons-from-neurofibromatosis-type-i
#20
Tom Dubov, Hagit Toledano-Alhadef, Felix Bokstein, Shlomi Constantini, Shay Ben-Shachar
BACKGROUND: Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous disease with a prevalence of 1:2500. Approximately, 50% of the cases are sporadic. Advanced paternal age is associated with germline mutations and autosomal diseases. We aimed to use NF1 as a paradigm to study the effect of parental age on sporadic mutation rates for both advanced and younger parental ages. METHODS: The medical charts of 118 NF1 pediatric patients followed in a specialized Israeli NF1 clinic were evaluated...
July 2016: Molecular Genetics & Genomic Medicine
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