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1. Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls NSTL国家科技图书文献中心

Guilherme,Guaragna-F... |  Gil,Guerra-Junior... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(1) - 16~25 - 共10页 - 被引量:1

摘要:Introduction: Although it was common in the |  1970s–1990s to assign female gender of rearing to 46 | ,XY infants with limited virilization of varying |  etiologies, including those with partial androgen |  insensitivity syndrome (PAIS), long-term data on outcomes for
关键词: Puberty |  Androgen insensitivity syndrome |  Partial androgen insensitivity syndrome |  Disorders of sex development |  Differences of sex development

2. The Aging Ovary and the Tales Learned Since Fetal Development NSTL国家科技图书文献中心

Jesus,Lopez |  Gabe,Hohensee... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(2/3) - 156~168 - 共13页

摘要:Background: While the term “aging” implies a |  process typically associated with later life, the |  consequences of ovarian aging are evident by the time a woman |  reaches her forties, and sometimes earlier. This is due |  to a gradual decline in the quantity and quality of
关键词: Ovary |  Ovarian aging |  Primordial follicle |  Oocyte |  Germ cell

3. Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development NSTL国家科技图书文献中心

Qiang,Guo |  Wen Wen,Zhong... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(1) - 26~31 - 共6页 - 被引量:2

摘要:Introduction: Disorders of sex development |  (DSDs) are congenital abnormalities in which |  chromosomal, gonadal, and anatomical sex development are |  atypical. One of these disorders, 46,XY DSD, is |  particularly difficult to diagnose and manage because its
关键词: Targeted next-generation sequencing |  46 |  XY disorders of sex development |  Gene variations |  Etiologic diagnosis

4. Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome NSTL国家科技图书文献中心

Hao Yang |  Xiuqi Ma... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(4/6) - 198~202 - 共5页 - 被引量:2

摘要:Introduction: The pathogenic variants in DEAH | -box RNA helicase DHX37 are one of the major causes |  of 46,XY gonadal dysgenesis and testicular |  regression syndrome (TRS). To date, only 13 different |  missense variants have been reported. We report two
关键词: DHX37 |  Disorders/differences of sex development |  Gonadal dysgenesis |  Testicular regression syndrome.

5. A New Understanding, Guided by Single-Cell Sequencing, of the Establishment and Maintenance of the Ovarian Reserve in Mammals NSTL国家科技图书文献中心

Emily R.,Frost |  Emmalee A.,Ford... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(2/3) - 145~155 - 共11页 - 被引量:1

摘要:Background: Oocytes are a finite and non | -renewable resource that are maintained in primordial |  follicle structures. The ovarian reserve is the totality |  of primordial follicles, present from birth, within |  the ovary and its establishment, size, and
关键词: Primordial follicle |  Ovary |  Oocyte |  Single-cell sequencing |  Fertility

6. Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center NSTL国家科技图书文献中心

Sultana M H Faradz |  Nurin Listyasari... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(4/6) - 170~180 - 共11页

摘要:Background: Our multidisciplinary team (MDT | ) is a large specialized team based in Semarang | , Indonesia, that cares for a wide variety of pediatric and |  adult individuals with differences of sex development |  (DSD) from across Indonesia. Here, we describe our
关键词: Chromosomes |  Disorders of sex development |  Genes |  Indonesia |  Multidisciplinary team.

7. The Effects of Pifithrin-μ on Spermatogonial Stem Cell Viability and Pluripotency NSTL国家科技图书文献中心

Sara Moghadasi |  Ehsan Razeghian... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(4/6) - 190~197 - 共8页

摘要:Introduction: Spermatogonial stem cells (SSCs | ) offer remarkable competencies for animal reproduction |  and overcoming human disease as a result of their |  differentiation capability. We evaluated the effect of small |  molecule pifithrin-mu (PFT-μ), a well-known inhibitor of
关键词: Differentiation |  Pifithrin-mu |  Pluripotency |  Spermatogonial stem cells |  Viability.

8. Sex Determination and Ovarian Development in Reptiles and Amphibians: From Genetic Pathways to Environmental Influences NSTL国家科技图书文献中心

Christopher R.,Smaga |  Samantha L.,Bock... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(2/3) - 99~119 - 共21页

摘要:Background: Reptiles and amphibians provide |  untapped potential for discovering how a diversity of |  genetic pathways and environmental conditions are |  incorporated into developmental processes that can lead to |  similar functional outcomes. These groups display a
关键词: Temperature-dependent sex determination |  Ovary |  Differentiation |  Contaminants |  Gonad

9. Factors within the Developing Embryo and Ovarian Microenvironment That Influence Primordial Germ Cell Fate NSTL国家科技图书文献中心

Monica M.,Laronda -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(2/3) - 134~144 - 共11页 - 被引量:1

摘要:Background: Primordial germ cell (PGC) fate is |  dictated by the designation, taxis, and influence of the |  surrounding embryonic somatic cells. Whereas gonadal sex |  determination results from a balance of factors within the |  tissue microenvironment. Summary: Our understanding of
关键词: Ovary |  Oocyte primordial germ cells |  Gonadal development |  Ovarian development

10. Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report NSTL国家科技图书文献中心

Shizuka,Kirino |  Analia,Yogi... -  《Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation》 - 2023,17(1) - 51~55 - 共5页 - 被引量:4

摘要:Introduction: The variants in the zinc finger |  (ZF) domains 1–3 in WT1 are one of the major causes |  of 46,XY disorders of sex development (DSD | ). Recently, variants in the fourth ZF (ZF4 variants) were |  reported to cause 46,XX DSD. However, all the 9 patients
关键词: Disorders of sex development |  WT1 |  The 4th zinc finger domain |  Familial case
检索条件出处:molecular biology and evolution

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