Results 51 to 60 of about 26,054 (200)

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, EarlyView.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Is there a causal association between genotoxicity and the imposex effect? [PDF]

, 2007
There is a growing body of evidence that indicates common environmental pollutants are capable of disrupting reproductive and developmental processes by interfering with the actions of endogenous hormones.
Depledge, Michael H., Galloway, Tamara S., Hagger, Josephine A., Jobling, Susan, Oehlmann, Jörg   +4 more
core  

Survival outcomes and prognostic factors of gastric carcinoma with neuroendocrine differentiation

International Journal of Cancer, EarlyView.
What's New? Although gastric carcinoma with neuroendocrine differentiation (GCNED) is associated with more aggressive features than conventional GC, its prognosis and survival remain poorly defined. To better understand survival patterns, the authors of the present study examined clinicopathological and prognostic features of GCNED patients following ...
Jinjin Li, Chenglong Wang, Yifan Shen, Zhen Huang, Jun Zhang, Siqi Rao, Youde Cao, Jiang Min   +7 more
wiley   +1 more source

MRI of the Scrotum and Penis: Current Applications and Clinical Relevance

Diagnostics
Background: Magnetic resonance imaging (MRI) plays an increasingly important role in the evaluation of scrotal and penile disorders, complementing ultrasonography in cases where findings are equivocal or complex.
Bartosz Regent, Karolina Nowak, Katarzyna Skrobisz, Marcin Matuszewski, Michał Studniarek   +4 more
doaj   +1 more source

Comorbidities in People With Intellectual Disability With and Without Schizophrenia and Schizophrenia Without Intellectual Disability: A Swedish Register Study (IDcare). [PDF]

J Intellect Disabil Res
ABSTRACT Background Intellectual disability (ID) and schizophrenia are known to separately carry a high risk of comorbidity of mental health and physical conditions. However, the prevalence and risk of comorbidities among people diagnosed with concurrent ID and schizophrenia have to date not been studied.
Bakken TL, Axmon A, Sandberg M.
europepmc   +2 more sources

Assessing the Effect of Adalimumab in Granuloma Annulare: A Case Series and Literature Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Granuloma annulare (GA) is a benign granulomatous skin disorder for which standardized treatment guidelines are lacking due to limited evidence. Adalimumab, a TNF‐α inhibitor, shows promise as a therapeutic option due to its potential to disrupt GA granulomas.
Adriana Caixinha Valorenzos, Line Kibsgaard, Trine Bertelsen   +2 more
wiley   +1 more source

Perspectives on testicular sex cord-stromal tumors and those composed of both germ cells and sex cord-stromal derivatives with a comparison to corresponding ovarian neoplasms [PDF]

, 2017
Sex cord-stromal tumors (SCSTs) are the second most frequent category of testicular neoplasms, accounting for approximately 2–5% of cases. Both genetic and epigenetic factors account for the differences in frequency and histologic composition between ...
Cheng, Liang, Lyu, Bingjian, Roth, Lawrence M.   +2 more
core   +1 more source

Reduced Visibility of Pigment Network Under Sub‐UV Reflectance Dermatoscopy Compared to Polarised Dermatoscopy: A Novel Diagnostic Clue to Differentiate Melanomas From Nevi

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Melanoma accounts for more than 75% of skin cancer‐related mortality. Dermatoscopy is an evidence‐based technique for earlier detection, yet differentiating melanocytic lesions remains challenging. Sub‐UV reflectance dermatoscopy (sUVRD) uses purple light (405 nm) to visualise chromophore distribution in the skin.
L. Dupont, P. Pietkiewicz, J. Anriot, P. Greco, A. Petiot‐Walch, C. Coste, E. Aurambout, S. Darnis, M. Amini‐Adle, L. Thomas   +9 more
wiley   +1 more source

HPV infection and immunochemical detection of cell-cycle markers in verrucous carcinoma of the penis [PDF]

, 2009
Penile verrucous carcinoma is a rare disease and little is known of its aetiology or pathogenesis. In this study we examined cell-cycle proteins expression and correlation with human papillomavirus infection in a series of 15 pure penile verrucous ...
A Ouban, AL Cubilla, AL Cubilla, AL Cubilla, AL Cubilla, AL Cubilla, AL Seixas, AS Masih, AS Narayana, B Kleter, C Dianzani, C Missero, Catherine Corbishley, CB Bunker, CL Haycox, Daniel M Berney, David M Prowse, DE Johnson, DM Prowse, E Ferreux, EF Velazquez, Elena Ktori, Elzbieta Stankiewicz, FT Kraus, GD Higgins, IB Roninson, Jack Cuzick, JC Noel, JR Nevins, KH Cuesta, KW Chan, KY Lam, KY Lam, L Gregoire, Laurence Ambroisine, LC Cubilla, LH Sobin, LL Villa, LV Ackerman, M Gualco, M Senba, M Serrano, M Wong, MA Rubin, MR Cupp, MT Kiyabu, Nicholas Watkin, PA Adegboyega, PA Hall, PH McKee, S Pilotti, Sakunthala C Kudahetti, SL Harris, T Sano, TH Cheung, VA Tron, VA Varma, Xiaoxi Zhang, Y Koyamatsu   +58 more
core   +1 more source