[HTML][HTML] Advances in genetic diagnosis of Kallmann syndrome and genetic interruption

Y Liu, X Zhi - Reproductive Sciences, 2022 - Springer
Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic
heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the …

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

E Deneault, M Faheem, SH White, DC Rodrigues… - Elife, 2019 - elifesciences.org
Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism
Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the …

Comparison of cortical folding measures for evaluation of developing human brain

JS Shimony, CD Smyser, G Wideman, D Alexopoulos… - Neuroimage, 2016 - Elsevier
We evaluated 22 measures of cortical folding, 20 derived from local curvature (curvature-
based measures) and two based on other features (sulcal depth and gyrification index), for …

[HTML][HTML] Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

K Kinjo, K Nagasaki, K Muroya, E Suzuki, K Ishiwata… - Scientific reports, 2020 - nature.com
Isolated hypogonadotropic hypogonadism (IHH), combined pituitary hormone deficiency
(CPHD), and septo-optic dysplasia (SOD) constitute a disease spectrum whose etiology …

The olfactory nerve: anatomy and pathology

AC Ottaiano, TAL Freddi, LL Lucio - Seminars in Ultrasound, CT and MRI, 2022 - Elsevier
The human sense of smell is the unique sense through which the olfactory system can
identify aromatic molecules within the air and provide a taste sensation. Still, also it plays an …

Sniffin'Sticks and olfactory system imaging in patients with Kallmann syndrome

G Ottaviano, E Cantone, A D'Errico… - International forum of …, 2015 - Wiley Online Library
Background The relationship between olfactory function, rhinencephalon and forebrain
changes in Kallmann syndrome (KS) have not been adequately investigated. We evaluated …

[HTML][HTML] A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome

R Zheng, Y Zhao, J Wu, Y Wang… - Molecular …, 2018 - spandidos-publications.com
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and
chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been …

Bone involvement in males with Kallmann disease

G Iolascon, L Frizzi, M Bianco, F Gimigliano… - Aging clinical and …, 2015 - Springer
Background Kallmann syndrome (KS) is a rare genetic condition characterized by
congenital early-onset hypogonadotropic hypogonadism and anosmia or hyposmia. Male …

Septo-optic dysplasia: assessment of associated findings with special attention to the olfactory sulci and tracts

JC Benson, D Nascene, C Truwit, AM McKinney - Clinical Neuroradiology, 2019 - Springer
Purpose Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia
and absent septum pellucidum. While associated anomalies have been described, olfactory …

A multimodal MR-compatible olfactometer with real-time controlling capability

SF Hosseini, SK Kamrava, S Asadi… - Journal of Medical …, 2020 - Taylor & Francis
Abstract Design of an MR-compatible and computer-controlled odour stimuli system is
essential in the studies of human olfactory function. Olfactometers are used to deliver odours …