Results 71 to 80 of about 62,351 (250)

AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia

UroPrecision, EarlyView.
Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy
Hangcheng Fu, Weijing Huang, Jeffrey T. White   +2 more
wiley   +1 more source

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association; Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care, Hong‐Yang Wang, Guo‐Hui Nie, Xiao‐Nan Wu, Ding‐Jun Zha, Tao Shi, Hai‐Bo Shi, Yong Feng, Wen‐Yan Li, Hai‐Hong Liu, Qing Zhang, Xiao‐Wei Chen, Xia Gao, Yong‐Xin Li, Lu Ma, Jin Li, Dan‐Yang Li, Xiao‐Long Zhang, Meng‐Tao Song, Xin Zhou, Lan Lan, Lan Yu, Meng‐Qian Zhang, Wei Shi, Fen Xiong, Lin‐Yi Xie, Guo‐Hui Chen, Kai‐Li Wu, Xiao‐Qian Ren, Qiu‐Jing Zhang, Ming‐Hui Zhao, Zi‐Yi Chen, Fei Ji, Jiao Zhang, Jing Guan, Da‐Yong Wang, Ren‐Jie Chai, Xin Jin, Hua‐Wei Li, Shi‐Ming Yang, Shan‐Kai Yin, Qiu‐Ju Wang   +43 more
wiley   +1 more source

Genomic aberrations in an African American colorectal cancer cohort reveals a MSI-specific profile and chromosome X amplification in male patients. [PDF]

PLoS ONE, 2012
DNA aberrations that cause colorectal cancer (CRC) occur in multiple steps that involve microsatellite instability (MSI) and chromosomal instability (CIN).
Hassan Brim, Edward Lee, Mones S Abu-Asab, Mohamed Chaouchi, Hadi Razjouyan, Hassanzadeh Namin, Ajay Goel, Alejandro A Schäffer, Hassan Ashktorab   +8 more
doaj   +1 more source

Random phase-free kinoform for large objects

, 2015
We propose a random phase-free kinoform for large objects. When not using the random phase in kinoform calculation, the reconstructed images from the kinoform are heavy degraded, like edge-only preserved images. In addition, the kinoform cannot record an
Daisuke Hiyama, Marie Sano, Minoru Oikawa, Ryuji Hirayama, Satoki Hasegawa, Takashi Kakue, Takashige Sugie, Tomoyoshi Ito, Tomoyoshi Shimobaba, Yuki Nagahama, Yutaka Endo   +10 more
core   +1 more source

Possible welfare benefits of basic income support: Evidence from a benefit incidence analysis in South Africa

Annals of Public and Cooperative Economics, EarlyView.
Abstract The study investigates the potential welfare effect of basic income support (BIS) in reducing poverty and inequality in South Africa. Using the 2017 labour force survey and a benefit incidence analysis, we consider three BIS scenarios: (i) universal income support for those aged between 18 and 59; (ii) only those who are unemployed receive the
Carolyn Chisadza, Margaret Chitiga‐Mabugu, Ramos Emmanuel Mabugu, Nicky Nicholls, Kehinde Oluwaseun Omotoso, Eleni Yitbarek   +5 more
wiley   +1 more source

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2017
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively.
Maki Fukami, Mami Miyado
doaj   +1 more source

Genetical stability and osteogenic ability of mesenchimal stem cells on demineralized bone matrices [PDF]

, 2015
Journal of Osseointegration Volume 7, Issue 1, 1 March 2015, Pages 2-7 Open Access Genetical stability and osteogenic ability of mesenchimal stem cells on demineralized bone matrices (Article) Pozzuoli, A.a, Gardin, C.b, Aldegheri, R.a, Bressan, E.c,
Aldegheri, R., Arrigoni, P., Biz, Carlo, Bressan, Eriberto, Calvo Guirado, J. L., Feroni, L., Gardin, Chiara, Isola, Maurizio, Pozzuoli, Assunta, Zavan, Barbara   +9 more
core   +1 more source

Classification of Symmetry-Protected Phases for Interacting Fermions in Two Dimensions

, 2018
Recently, it has been shown that two-dimensional bosonic symmetry-protected topological(SPT) phases with on-site unitary symmetry $G$ can be completely classified by the group cohomology class $H^3(G, \mathrm{U}(1))$.
Bi, Zhen, Cheng, Meng, Gu, Zheng-Cheng, You, Yi-Zhuang   +3 more
core   +1 more source

Immunohistochemistry as a tool for identifying EGFR amplification in CNS tumors

Brain Pathology, EarlyView.
EGFR gene amplification constitutes a diagnostic hallmark for glioblastoma, IDH‐wildtype (GB, IDH‐WT). Herein, we demonstrated that EGFR IHC is a highly specific and sensitive biomarker for identifying EGFR amplification and should be part of the neuropathologist's routine panel of antibodies.
Arnault Tauziède‐Espariat, Mary Bah, Farah Sassi, Noémie Pucelle, Charlotte Berthaud, Marion Mandoula, Zeina Dababou, Noah Carnes, Leïla Brissez, Lauren Hasty, Euphrasie Servant, Alice Métais, Pascale Varlet   +12 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source