Results 41 to 50 of about 56,903 (162)

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study

Endocrine Connections, 2023
Diagnosis and management strategy of disorders of sex developme nt (DSD) are difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanisms have been identified ...
Yijun Tang, Yao Chen, Jiayi Wang, Qianwen Zhang, Yirou Wang, Yufei Xu, Xin Li, Jian Wang, Xiumin Wang   +8 more
doaj   +1 more source

Research progress in the role of DHX37 gene in disorders of sex development

Shanghai Jiaotong Daxue xuebao. Yixue ban
Disorders of sex development (DSD) are a group of conditions with strong clinical phenotype heterogeneity, and the incidence of DSD in the population is 1/5 000 to 1/4 500.
LIU Bei, HE Jing
doaj   +1 more source

Clin Mol 46,XY DSD

, 2018
Molecular e General Data - 46,XY DSD Brazilian ...
Berenice B. Mendonca (307181), Rafael Batista (5856014)   +1 more
core   +1 more source

Impact of Disorders of Sex Development on Egyptian Parents and Factors Affecting Them

Journal of High Institute of Public Health, 2022
Background: Disorders of sex development (DSD) are a category of congenital diseases characterized by aberrant internal and external genital structure development.
Marwa Abd Elmaksoud, Hala Ali, Bayoumi Gharib, Sally S. Othman, Shaymaa Elsayed   +4 more
doaj   +1 more source

46,XY disorders of sex development (DSD)

, 2009
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.
MENDONCA, Berenice Bilharinho, ARNHOLD, Ivo J. P., COSTA, Elaine M. F., DOMENICE, Sorahia   +3 more
core   +1 more source

The role of additives in the film formation kinetics of active layers in organic solar cells: From in situ characterization to mechanistic elucidation

FlexMat, EarlyView.
This review highlights the critical regulatory role of liquid and solid additives in the film formation kinetics of organic solar cells (OSCs) active layer. Real‐time in situ characterization technology techniques (in situ UV‐Vis, PL, GIWAXS, and GISAXS) are utilized to monitor the dynamic solution‐to‐solid transformation, revealing how additives ...
Yuanwei Zhao, Weichao Zhang, Tianyu Zhang, Jigui Tang, Yali Chen, Zheling Zhang, Dongjie Wang, Jian Zhang, Huiqiong Zhou   +8 more
wiley   +1 more source

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core  

Single Versus Double Screw Extrusion: Impact on Mechanical Performance and Crack Resistance for a Virgin, Recycled, and Blended Polypropylene

Polymer Engineering &Science, EarlyView.
Schematic overview of the study approach and key findings. ABSTRACT To evaluate the influence of extrusion on material performance, three processing methods, single extrusion (1x Ex), double extrusion (2x Ex), and double screw compounding (C), were investigated for virgin polypropylene (vPP), recycled PP (rPP), and a blend containing 10% rPP (rPP10 ...
J. Pötzlbauer, J. Geier, B. Haar, S. Schuschnigg, M. Messiha, T. Koch, C. Maurer, G. Pinter, F. Arbeiter   +8 more
wiley   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core  

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

JCRPE, 2023
INTRODUCTION: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD)
Rjiba Khouloud, Wafa Slimani, Meriem Gaddas, Ikbel Hadj hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli   +10 more
doaj   +1 more source