Nasal placode development, GnRH neuronal migration and Kallmann syndrome
HJ Cho, Y Shan, NC Whittington… - Frontiers in Cell and …, 2019 - frontiersin.org
The development of Gonadotropin releasing hormone-1 (GnRH) neurons is important for a
functional reproduction system in vertebrates. Disruption of GnRH results in hypogonadism …
functional reproduction system in vertebrates. Disruption of GnRH results in hypogonadism …
Targeted gene panel sequencing for molecular diagnosis of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
JH Kim, GH Seo, GH Kim, J Huh… - Experimental and …, 2019 - thieme-connect.com
Background Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified
either as Kallmann syndrome (KS) with anosmia or normosmic idiopathic hypogonadotropic …
either as Kallmann syndrome (KS) with anosmia or normosmic idiopathic hypogonadotropic …
Altered white matter organization in the TUBB3 E410K syndrome
Seven unrelated individuals (four pediatric, three adults) with the TUBB3 E410K syndrome,
harboring identical de novo heterozygous TUBB3 c. 1228 G> A mutations, underwent …
harboring identical de novo heterozygous TUBB3 c. 1228 G> A mutations, underwent …
Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles
G Heidary, S Mackinnon, A Elliott, BJ Barry… - Journal of American …, 2019 - Elsevier
Purpose To detail surgical strategy and strabismus outcomes in a genetically defined cohort
of patients with congenital fibrosis of the extraocular muscles (CFEOM). Methods A total of …
of patients with congenital fibrosis of the extraocular muscles (CFEOM). Methods A total of …
Anomalous superior oblique muscles and tendons in congenital fibrosis of the extraocular muscles
Purpose To evaluate the finding of anomalous superior oblique muscles in congenital
fibrosis of the extraocular muscles (CFEOM), a feature not previously emphasized in this …
fibrosis of the extraocular muscles (CFEOM), a feature not previously emphasized in this …
BRAFV600E expression in mouse neuroglial progenitors increase neuronal excitability, cause appearance of balloon-like cells, neuronal mislocalization, and …
RU Goz, A Silas, S Buzel, JJ LoTurco - bioRxiv, 2019 - biorxiv.org
BACKGROUND Frequent de-novo somatic mutations in major components (PI3KCA, AKT3,
TSC1, TSC2, mTOR, BRAF) of molecular pathways crucial for cell differentiation …
TSC1, TSC2, mTOR, BRAF) of molecular pathways crucial for cell differentiation …
Congenital and genetic disruptions of human ocular motility and alignment–phenotypic/genotypic bi-directional algorithm
DT Oystreck - 2019 - scholar.sun.ac.za
Our understanding of congenital and genetic disruption to human ocular motility and
alignment has expanded significantly over the past 15 years due in large part to advances in …
alignment has expanded significantly over the past 15 years due in large part to advances in …