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https://www.readbyqxmd.com/read/29783802/-clinicopathologic-and-molecular-features-of-cribriform-morular-variant-of-papillary-thyroid-carcinoma
#1
X J Cui, H O Zhao, P Su, J Chen, R Y Zhang, Y Pan, X M Ouyang, J Liu, J Q Zhang, Y Yang, R Yang, L Ding, Z Y Liu
Objective: To investigate the clinicopathologic and molecular features of the rare cribriform morular variant of papillary thyroid carcinoma (CMV-PTC). Methods: The clinicopathologic data of 10 patients with CMV-PTC were retrospectively reviewed. Immunohistochemical (IHC) staining was done using LSAB method. DNA sequencing for APC were applied using Sanger method. BRAF V600E mutation was examined using ARMS method. The cytological, morphological, IHC and molecular features were analyzed. Results: All patients were female at an average age of 27 years old...
May 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29771000/molecular-testing-in-holoprosencephaly
#2
Paul Kruszka, Ariel F Martinez, Maximilian Muenke
Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29751744/a-case-of-raine-syndrome-presenting-with-facial-dysmorphy-and-review-of-literature
#3
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype...
May 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29726589/chromosomal-rearrangements-in-uveal-melanoma-chromothripsis
#4
Natasha M van Poppelen, Serdar Yavuzyigitoglu, Kyra N Smit, Jolanda Vaarwater, Bert Eussen, Tom Brands, Dion Paridaens, Emine Kiliç, Annelies de Klein
Uveal melanoma (UM) is the most common primary intraocular malignancy in the Western world. Recurrent mutations in GNAQ, GNA11, CYSLTR2, PLCB4, BAP1, EIF1AX and SF3B1 are described as well as non-random chromosomal aberrations. Chromothripsis is a rare event in which chromosomes are shattered and rearranged and has been reported in a variety of cancers including UM. SNP arrays of 249 UM from patients who underwent enucleation, biopsy or endoresection were reviewed for the presence of chromothripsis. Chromothripsis was defined as ten or more breakpoints per chromosome involved...
May 4, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29704675/efficacy-of-crizotinib-among-different-types-of-ros1-fusion-partners-in-patients-with-ros1-rearranged-non-small-cell-lung-cancer
#5
Ziming Li, Lan Shen, Ding Ding, Jia Huang, Jie Zhang, Zhiwei Chen, Shun Lu
INTRODUCTION: ROS1 rearrangement-positive non-small-cell lung cancer (NSCLC) can be treated effectively, with an anaplastic lymphoma kinase (ALK)/ROS1/mesenchymal-epithelial transition factor inhibitor such as crizotinib. However the rate of response remains variable. Although several ROS1 fusion partners have been identified, the efficacy of crizotinib in patients with different types of ROS1 fusion partners is poorly understood. METHODS: We reviewed clinicopathological data of patients with ROS1-rearrangement who received crizotinib therapy at our institution between April 2014 and December 2016...
April 25, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29690664/-clinicopathologic-features-of-gastric-plexiform-fibromyxoma
#6
G M Hu, H P Chen, Q Y Liu, X C Shi, H F Wu, Y K Feng, J L Ren, C F Wang
Objective: To analyse the clinicopathologic features of gastric plexiform fibromyxoma (PF) including diagnosis, differential diagnosis, immunohistochemistry and molecular pathology. Methods: Eight cases of PF were collected from June 2006 to June 2017 at the Second Affiliated Hospital of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University. The clinicopathologic findings of eight cases of PF were retrospectively analyzed, and immunohistochemistry (EnVision method) and molecular detection of glioma-associated oncogene homologue 1 (GLI1) gene translocation were performed...
April 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29655603/new-technologies-to-uncover-the-molecular-basis-of-disorders-of-sex-development
#7
REVIEW
Hayk Barseghyan, Emmanuèle C Délot, Eric Vilain
The elegant developmental biology experiments conducted in the 1940s by French physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo depended whether the embryonic gonad develops into a testis or not. In humans, anomalies in the processes that regulate development of chromosomal, gonadal or anatomic sex result in a spectrum of conditions termed Disorders/Differences of Sex Development (DSD). Each of these conditions is rare, and understanding of their genetic etiology is still incomplete...
April 12, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29610859/the-mt-co1-v83i-polymorphism-is-a-risk-factor-for-primary-open-angle-glaucoma-in-african-american-men
#8
David W Collins, Harini V Gudiseva, Venkata R M Chavali, Benjamin Trachtman, Meera Ramakrishnan, William T Merritt Iii, Maxwell Pistilli, Rebecca A Rossi, Stephanie Blachon, Prithvi S Sankar, Eydie Miller-Ellis, Amanda Lehman, Victoria Addis, Joan M O'Brien
Purpose: We investigate the function of the V83I polymorphism (m.6150G>A, rs879053914) in the mitochondrial cytochrome c oxidase subunit 1 (MT-CO1) gene and its role in African American (AA) primary open-angle glaucoma (POAG). Methods: This study used Sanger sequencing (1339 cases, 850 controls), phenotypic characterization of Primary Open-Angle African American Glaucoma Genetics study (POAAGG) cases, a masked chart review of CO1 missense cases (V83I plus M117T, n = 29) versus wild type cases (n = 29), a yeast 2-hybrid (Y2H) cDNA library screen, and quantification of protein-protein interactions by Y2H and ELISA...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29609578/the-identification-of-h3f3a-mutation-in-giant-cell-tumour-of-the-clivus-and-the-histological-diagnostic-algorithm-of-other-clival-lesions-permit-the-differential-diagnosis-in-this-location
#9
Federica Scotto di Carlo, Giuseppina Divisato, Maurizio Iacoangeli, Teresa Esposito, Fernando Gianfrancesco
BACKGROUND: Giant Cell Tumour of Bone (GCT) is a locally aggressive primary bone tumour that usually occurs at the epiphyses of the long bones of the appendicular skeleton with a tendency to recurrence. Recurrent somatic H3F3A mutations have been described in 92% of GCT cases. GCTs involving the Clivus are extremely rare lesions and less than 15 cases are described in the literature. They represent a surgery challenge and are easily misdiagnosed. Our aim was to reveal if the genetic bases underlying Clival GCTs were the same of GCTs of long bones to improve the diagnosis and treatment...
April 2, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29603332/solid-papillary-breast-carcinomas-resembling-the-tall-cell-variant-of-papillary-thyroid-neoplasms-solid-papillary-carcinomas-with-reverse-polarity-harbor-recurrent-mutations-affecting-idh2-and-pik3ca-a-validation-cohort
#10
John R Lozada, Thais Basili, Fresia Pareja, Barbara Alemar, Arnaud C Paula, Rodrigo Gularte-Merida, Dilip D Giri, Patrizia Querzoli, Gabor Cserni, Emad A Rakha, Maria Pia Foschini, Jorge S Reis-Filho, Edi Brogi, Britta Weigelt, Felipe C Geyer
AIMS: Solid papillary breast carcinoma resembling the tall cell variant of papillary thyroid neoplasms (BPTC), also known as solid papillary carcinoma with reverse polarity, is a rare histologic type of breast cancer that morphologically resembles the tall cell variant of papillary thyroid carcinoma. BPTCs are characterized by IDH2 R172 hotspot somatic mutations or mutually exclusive TET2 somatic mutations, concurrently with mutations affecting PI3K pathway-related genes. We sought to characterize their histology, and investigate the frequency of IDH2 and PIK3CA mutations in an independent cohort of BPTCs, as well as in conventional solid papillary carcinomas (SPCs)...
March 30, 2018: Histopathology
https://www.readbyqxmd.com/read/29600373/targeted-single-gene-mutation-in-esophageal-adenocarcinoma
#11
Katherine T W Lee, Robert A Smith, Vinod Gopalan, Alfred K Lam
Esophageal adenocarcinoma is heterogeneous and studies have reviewed many important mutations that contribute to the pathogenesis of the cancer. These discoveries have helped paved the way into identifying new gene markers or gene targets to develop novel molecular directed therapy for better patient outcomes in esophageal adenocarcinoma. Despite the recent bloom in next-generation sequencing, Sanger sequencing still represents the gold standard method for the study of the driver genes in esophageal adenocarcinoma...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29582694/anconeus-epitrochlearis-muscle-associated-with-cubital-tunnel-syndrome-a-case-series
#12
Nicholas Kim, Ryan Stehr, Hani S Matloub, James R Sanger
BACKGROUND: Cubital tunnel syndrome is a common compressive neuropathy of the upper extremity. The anconeus epitrochlearis muscle is an unusual but occasional contributor. We review our experience with this anomalous muscle in elbows with cubital tunnel syndrome. METHODS: We retrospectively reviewed charts of 13 patients noted to have an anconeus epitrochlearis muscle associated with cubital tunnel syndrome. RESULTS: Ten patients had unilateral ulnar neuropathy supported by nerve conduction studies...
March 1, 2018: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/29580732/non-stented-versus-stented-urethroplasty-for-distal-hypospadias-repair-a-systematic-review-and-meta-analysis
#13
REVIEW
Michael Chua, Christopher Welsh, Bisma Amir, Jan Michael Silangcruz, Jessica Ming, Michele Gnech, Stephanie Sanger, Armando Lorenzo, Luis H Braga, Darius Bägli
INTRODUCTION: Studies have shown that non-stented distal hypospadias repair eliminates stent-related bladder spasm and stent removal discomfort without increasing complications; however, results are inconsistent. We performed a systematic review to assess the complication rates of non-stented compared to the stented distal hypospadias repair. METHODS: The literature search included randomized control trials (RCTs) and cohort studies published prior to October 2016 in all languages (PROSPERO CRD42016047563)...
February 9, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29578123/a-novel-slc20a2-mutation-associated-with-familial-idiopathic-basal-ganglia-calcification-and-analysis-of-the-genotype-phenotype-association-in-chinese-patients
#14
Yan Ding, Hui-Qing Dong
Background: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. Methods: Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent...
April 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29566451/dental-implications-in-hajdu-cheney-syndrome-a-novel-case-report-and-review-of-the-literature
#15
Ji Won Lee, Youn Jung Kim, Jenny Kang, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Zang Hee Lee, Jung-Wook Kim
OBJECTIVE: To identify the molecular genetic etiology of an individual with a dysmorphic face, unusual teeth mobility and root resorption. SUBJECTS AND METHODS: DNA samples were collected from a trio of family members, and whole exome sequencing was performed. RESULTS: Mutational analysis revealed a de novo mutation (c.6787C>T) in the last exon of the NOTCH2 gene. This mutation would introduce a premature stop codon [p.(Gln2263*)] and generate a truncated protein without C-terminus, escaping from the nonsense mediated decay system...
March 22, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29564582/novel-mutation-in-cecr1-leads-to-deficiency-of-ada2-with-associated-neutropenia
#16
Funda Erol Cipe, Cigdem Aydogmus, Nina K Serwas, Gonca Keskindemirci, Kaan Boztuğ
PURPOSE: Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and rashes mimicking polyarteritis nodosa (PAN). We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2. METHODS: We reviewed medical records and clinical history of the patient. No mutations in other known neutropenia genes such as ELA, G6PC3, HAX1, AP3B1, LAMTOR2, VPS13B, VPS45, GFI1, JAGN1, or WAS could be detected...
March 21, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29542069/connexin-26-gjb2-mutations-associated-with-non-syndromic-hearing-loss-nshl
#17
Shivani Mishra, Himani Pandey, Priyanka Srivastava, Kausik Mandal, Shubha R Phadke
OBJECTIVE: To determine the prevalence and spectrum of Connexin 26 (GJB2) mutations in pre-lingual non-syndromic hearing loss (NSHL) patients in authors' centre and to review the data of Indian patients from the literature. METHODS: Sanger sequencing of entire coding region contained in single exon (Exon 2) of GJB2 gene in 15 patients of NSHL. RESULTS: GJB2 mutations were found in 40% (6/15) of NSHL patients, out of which mono-allelic were 33...
March 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29537649/high-rate-of-pik3ca-mutations-but-no-tp53-mutations-in-low-grade-adenosquamous-carcinoma-of-the-breast
#18
Guillaume Bataillon, Laetitia Fuhrmann, Elodie Girard, Emanuelle Menet, Marick Laé, Mathieu Capovilla, Isabelle Treilleux, Laurent Arnould, Frederique Penault-Llorca, Roman Rouzier, Caterina Marchiò, Ivan Bieche, Anne Vincent-Salomon
AIMS: Low-grade adenosquamous carcinoma of the breast (LGASC) is a rare variant of metaplastic carcinoma characterised by a favourable outcome and histologically composed of glandular and squamous elements in a spindle cell background typically associated with a lymphocytic stromal reaction. Because of its rarity, the immunophenotypic and genetic profile of LGASC has not been sufficiently characterised. The aim of this study was to gain insights into the molecular and phenotypic characteristics of LGASC...
March 14, 2018: Histopathology
https://www.readbyqxmd.com/read/29534358/-lipofibromatosis-a-clinicopathological-analysis-of-eight-cases
#19
REVIEW
Q Y Lao, M Sun, L Yu, J Wang
Objective: To investigate the clinicopathological characteristics and differential diagnosis of lipofibromatosis. Methods: The clinicopathological features and immunohistochemical profiles in 8 cases of lipofibromatosis diagnosed at Fudan University Shanghai Cancer Center from January 2008 to June 2017 were studied. Molecular analysis of β-catenin mutation by Sanger sequencing, NTKR1 and ETV6 rearrangements by FISH were performed. The follow up information was evaluated and the literature was reviewed. Results: There were 4 males and 4 females with a median age of 1...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29518832/-dars-mutations-responsible-for-hypomyelination-with-brain-stem-and-spinal-cord-involvement-and-leg-spasticity-report-of-two-cases-and-review-of-literature
#20
J Zhang, M Liu, L Zhou, Z B Zhang, J M Wang, Y W Jiang, Y Wu
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) due to mutations in DARS, and to identify DARS mutations responsible for HBSL. Methods: Data on 2 HBSL patients who were admitted to the pediatric department of Peking University First Hospital from January 2009 through December 2016 were reviewed and the 2 patients were followed up. Targeted next generation sequencing, whole exome sequencing and Sanger sequencing were employed to identify potential genetic variations of the children and their parents...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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