Results 91 to 100 of about 331,784 (343)

Thyroid hormone receptors and ligand, tissue distribution and sexual behavior [PDF]

open access: yes, 2018
The thyroid hormones (THs) triiodothyronine (T3) and tetraiodothyronine, or thyroxine (T4), not only dramatically impact on development and differentiation, but also on the sexual and reproductive function.
Carosa, E, Jannini, Ea, Lenzi, A
core   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

Testicular degeneration and infertility following arbovirus infection [PDF]

open access: yes, 2018
Arboviruses can cause a variety of clinical signs including febrile illness, arthritis, encephalitis and hemorrhagic fever. The recent Zika epidemic highlighted the possibility that arboviruses may also negatively affect the male reproductive tract.
Dattena, Maria   +11 more
core   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Perineal ectopic testis with unilateral scrotal hypoplasia

open access: yesJournal of Pediatric Surgery Case Reports, 2019
Perineal ectopic testis, is one of the least commonly seen abnormalities of testicular descent. Ectopic testis represents approximately one percent of undescended testis cases.
V. Jafarov
doaj  

Developmental changes in the histological structure of the testes, and testosterone profiles in male guinea fowls (Numida meleagris) [PDF]

open access: yes, 2017
Owing to the paucity of information on the reproductive biology of guinea fowls, a study involving a total of 66 males was conducted, and documented the developmental changes in histological structure of the testes of guinea cocks from hatching until ...
Abdul-Rahman, Iddriss I.   +2 more
core   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas   +2 more
wiley   +1 more source

Profiling of testis-specific long noncoding RNAs in mice

open access: yesBMC Genomics, 2018
Background Spermatogenesis, which is the complex and highly regulated process of producing haploid spermatozoa, involves testis-specific transcripts. Recent studies have discovered that long noncoding RNAs (lncRNAs) are novel regulatory molecules that ...
Seong Hyeon Hong   +6 more
doaj   +1 more source

A new species of Dermopristis Kearn, Whittington & Evans-Gowing, 2010 (Monogenea: Microbothriidae), with observations on associations between the gut diverticula and reproductive system and on the presence of denticles in the nasal fossae of the host Glaucostegus typus (Bennett) (Elasmobranchii: Rhinobatidae) [PDF]

open access: yes, 2011
Dermopristis cairae n. sp. (Microbothriidae) is described from the skin and possibly from the nasal fossae of the giant shovelnosed ray Glaucostegus typus (Bennett). The new species is distinguished from D.
EM Perkins   +14 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

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