Results 51 to 60 of about 2,952 (186)

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

open access: yesArchives of Medical Science, 2020
Introduction Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as
Agnieszka Gach   +13 more
doaj   +1 more source

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

open access: yesEndocrine Connections, 2022
Objective: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty.
Ja Hye Kim   +5 more
doaj   +1 more source

EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder

open access: yesMovement Disorders, EarlyView.
ABSTRACT Background Congenital mirror movement disorders (CMMs) are clinically and genetically heterogeneous in human patients. CMMs have not been documented to occur spontaneously in animals. Objective The objective of this work was to document the first case of CMMs spontaneously occurring in Weimaraner dogs and to identify the underlying genetic ...
Cleo Schwarz   +11 more
wiley   +1 more source

Clinical and inheritance profiles of Kallmann syndrome in Jordan

open access: yesReproductive Health, 2004
Background Proper management of patients with Kallmann syndrome (KS) allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients ...
Shegem Nadima S   +4 more
doaj   +1 more source

Kisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders

open access: yesAndrology, EarlyView.
Abstract The hypothalamic–pituitary–gonadal axis is regulated by the gonadotropin‐releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and ...
Aureliane C. S. Pierret   +5 more
wiley   +1 more source

The aporetic dialogues of Modena on gender differences: Is it all about testosterone? Episode II: Empathy

open access: yesAndrology, EarlyView.
Abstract The exploration of gender differences in non‐andrological fields was the core focus of a series of discussions, which took place at the Endocrinology Unit in Modena, Italy in the form of the aporetic dialogue of ancient Greece. This second episode reports the transcript of the actual debate on testosterone's role in defining empathic behavior ...
Giulia Brigante   +6 more
wiley   +1 more source

Mutations in FEZF1 Cause Kallmann Syndrome [PDF]

open access: yesThe American Journal of Human Genetics, 2014
Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic ...
La Kotan, L. Dam   +12 more
openaire   +5 more sources

Corticospinal Tract Development, Evolution, and Skilled Movements

open access: yesMovement Disorders, Volume 40, Issue 7, Page 1221-1232, July 2025.
Abstract The evolution of the corticospinal tract (CST) is closely linked to the development of skilled voluntary movements in mammals. The main evolutionary divergence concerns the position of the CST within the spinal cord white matter and its postsynaptic targets in the grey matter.
Emmanuel Roze   +2 more
wiley   +1 more source

A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome

open access: yesThe Application of Clinical Genetics, 2014
Antonette Souto El Husny,1 Milene Raiol-Moraes,1 Milena Coelho Fernandes-Caldato,2,3 Ândrea Ribeiro-dos-Santos1 1Laboratory of Human and Medical Genetics, Federal University of Pará, 2João de Barros Barreto University Hospital ...
El Husny AS   +3 more
doaj  

Kallmann Syndrome - causes, symptoms, treatment - review of literature

open access: yesQuality in Sport
Background: Kallmann syndrome is a rare congenital disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia. KS results from abnormalities in the migration of GnRH neurons from the nasal placode to the hypothalamus.
Natalia Żak
doaj   +1 more source

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