Results 51 to 60 of about 591 (138)

Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post‐genome era

Animal Genetics, Volume 50, Issue 6, Page 569-597, December 2019., 2019
Summary The horse reference genome from the Thoroughbred mare Twilight has been available for a decade and, together with advances in genomics technologies, has led to unparalleled developments in equine genomics. At the core of this progress is the continuing improvement of the quality, contiguity and completeness of the reference genome, and its ...
T. Raudsepp, C. J. Finno, R. R. Bellone, J. L. Petersen   +3 more
wiley   +1 more source

Criteria of Clinical Diagnostics and Choice of Treatment Strategy in Children with Disoders of Sexual Development [PDF]

Саратовский научно-медицинский журнал, 2010
The number of patients with disorders of sexual development (DSD) has increased in 3.54 times during the last three years. The aim is to define the structure of intersexual disorders in children from Saratov, criteria of gender assignment and surgical ...
N.V. Bolotova, D.A. Morozov, N.U. Raygorodskaya, D.A. Zharkov, M.M. Grigorjeva, E.N. Tsmokalyuk   +5 more
doaj  

Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents

International Journal of Endocrinology, 2019
Objective. The purpose of this study was to describe baseline data on etiological, clinical, laboratory, and management strategies in Kenyan children and adolescents with Disorders of Sex Development (DSD). Methods.
Prisca Amolo, Paul Laigong, Anjumanara Omar, Stenvert Drop   +3 more
doaj   +1 more source

A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development

Clinical Pediatric Endocrinology, 2012
Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation in which the gonads of an individual are characterized by the presence of both mature ovarian and testicular tissues. The objective of this paper is to report the clinical, cytogenetic and histopathological findings in Sri Lankan patients diagnosed with OT ...
Wettasinghe, K., Sirisena, N., Andraweera, P., Jayasekara, R., Dissanayake, V.   +4 more
openaire   +4 more sources

Enhancing intersex healthcare: A qualitative study of parental perspectives on the role of genetics

Journal of Genetic Counseling, Volume 34, Issue 1, February 2025.
Abstract Intersex individuals, encompassing people with diverse sex characteristics that do not fit binary frameworks of sex, have long faced a history of medical secrecy, discrimination, and societal stigma, contributing to their limited social visibility.
Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly   +4 more
wiley   +1 more source

Disorders of sex development 45,X/46,XY: clinical and laboratory characteristics of patients

Бюллетень сибирской медицины, 2017
Aim. To study the clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,Х/46,ХY.Materials and methods. The study included 248 patients with genital malformations from early neonatal period to 18 years.
Oleg Yu. Latyshev, Ekaterina S. Sannikova, Lubov N. Samsonova, Elena V. Kiseleva, Goar F. Okminyan, Olga M. Dondup, Elvira P. Kasatkina   +6 more
doaj   +1 more source

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
When the SRY gene is present in a 46,XX fetus, some degree of testicular development is expected. Our laboratory detected an SRY+ derivative X chromosome resulting from a translocation between Xq28 and Yp11.2 in an apparently typical female neonate. This case demonstrates how the SRY gene may be present in a 46,XX biological female without differences ...
Casey J. Brewer, Alyxis G. Coyan, Nicki Smith, Brittany Jones, Teresa A. Smolarek, Jie Liu   +5 more
wiley   +1 more source

Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study.

PLoS ONE, 2019
Testicular or ovotesticular disorders of sex development (DSD) in individuals with female karyotype (XX) lacking the SRY gene has been observed in several mammalian species, including dogs.
Joanna Nowacka-Woszuk, Izabela Szczerbal, Monika Stachowiak, Maciej Szydlowski, Wojciech Nizanski, Stanislaw Dzimira, Artur Maslak, Rita Payan-Carreira, Eline Wydooghe, Tomasz Nowak, Marek Switonski   +10 more
doaj   +1 more source

Clinical, Genetic, Biochemical, Hormonal, and Radiological Profile in Patients with Disorders of Sex Development Presenting at a Tertiary Care Center in Central India

National Journal of Clinical Anatomy
Introduction: Disorders of sexual differentiation or differences in sex development (DSD) is a congenital anomaly with abnormal differentiation between internal gonads and external genitalia.
Manisha B. Sinha, Charu Sharma
doaj   +1 more source

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development

Frontiers in Endocrinology
Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens.
Zehra Yavas Abalı, Tulay Guran
doaj   +1 more source