Cutis verticis gyrata in a patient with multiple basal cell carcinomas; case presentation and review of the literature [PDF]
, 2016 Cutis verticis gyrata is a rare disease characterized by convoluted folds and deep furrows of the scalp, resembling the gyri and sulci of the cerebral cortex.
Benea, Vasile +6 more
core +4 more sources
Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]
, 2019 ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele +9 more
core +1 more source
A structural magnetic resonance imaging study in transgender persons on cross-sex hormone therapy [PDF]
, 2016 <b><i>Background:</i></b> To date, research findings are inconsistent about whether the neuroanatomy in transgender persons resembles that of their natal sex or their gender identity.
Landré, Lionel +3 more
core +2 more sources
Influence of the X-chromosome on neuroanatomy: evidence from Turner and Klinefelter syndromes. [PDF]
, 2014 Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act ...
Hoeft, Fumiko +6 more
core +2 more sources
A rare case of multiple impacted teeth in a Klinefelter patient
Journal of Craniomaxillofacial Research, 2015 Klinefelter syndrome includes a group of chromosomal disorders with at least one additional X chromosome in male karyotype (46,XY). Up to now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel ...
Alireza Parhiz
doaj
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells article [PDF]
, 2018 The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty.
Aksglaede, Lise +11 more
core +2 more sources
Clinical Pediatric Hematology-Oncology, 2020 Background : : Approximately 8% of male patients presenting with primary mediastinal germ cell tumors (GCTs) have Klinefelter syndrome (KS), while patients diagnosed with retroperitoneal GCTs also exhibit a range of chromosomal abnormalities.
Yura Kim +5 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2006 Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY ...
Daniel R. Carvalho +2 more
doaj +1 more source
The clinical impact of chromosomal microarray on paediatric care in Hong Kong [PDF]
, 2014 Objective To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. Methods We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID ...
Chan, YK +13 more
core +1 more source
Développement et utilisation d'un questionnaire d'évaluation de la transition de l'adolescent atteint du syndrome de Klinefelter [PDF]
, 2014 1.1.Introduction Le but de cette étude est de développer un programme de suivi et de transition structuré pour les enfants adolescents et jeunes adultes atteints d'un syndrome de Klinefelter (KS), afin de les guider avec leur entourage dans la ...
HERITIER, V.
core