Cyclic vomiting syndrome in children

U Raucci, O Borrelli, G Di Nardo, R Tambucci… - Frontiers in …, 2020 - frontiersin.org
Cyclic Vomiting Syndrome (CVS) is an underdiagnosed episodic syndrome characterized by
frequent hospitalizations, multiple comorbidities, and poor quality of life. It is often …

A balanced translocation in Kallmann syndrome implicates a long noncoding RNA, RMST, as a GnRH neuronal regulator

M Stamou, SY Ng, H Brand, H Wang… - The Journal of …, 2020 - academic.oup.com
Context Kallmann syndrome (KS) is a rare, genetically heterogeneous Mendelian disorder.
Structural defects in KS patients have helped define the genetic architecture of gonadotropin …

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

ML Dentici, V Maglione, E Agolini… - American Journal of …, 2020 - Wiley Online Library
The tubulinopathies refer to a wide range of brain malformations caused by mutations in one
of the seven genes encoding different tubulin's isotypes. The β‐tubulin isotype III (TUBB3) …

Autosomal dominant TUBB3-related syndrome: fetal, radiologic, clinical and morphological features

L Blumkin, Z Leibovitz, K Krajden-Haratz, A Arad… - European Journal of …, 2020 - Elsevier
Objective To describe fetal, clinical, radiological, morphological features of TUBB3 related
syndrome. Methods We report two families each of two generations harboring a novel and a …

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3

SC Smith, AH Olney, A Beavers… - American Journal of …, 2020 - Wiley Online Library
Missense variants in TUBB3 have historically been associated with either congenital fibrosis
of the extraocular muscles type 3 (CFEOM3) or malformations of cortical development …

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles

AO Khan - Journal of the American Association for Pediatric …, 2020 - jaapos.org
To the Editor: Heidary and colleagues 1 report their group's strabismus surgery experience
with genotyped congenital fibrosis of the extraocular muscle (CFEOM) types 1 and 3. In their …

[PDF][PDF] SOBRE LA CRÍTICA A LA DECONSTRUCCIÓN DE GÉNERO EN EL FEMINISMO ACTUAL

WAV Román - academia.edu
Este artículo teórico, pretende manifestar al lector la deconstrucción de género que está
pasando la sociedad con el feminismo actual y su ideología de género. Para acercar a la …

Functional Studies of Disease-Associated Variants in the Tubulin-Specific Chaperone D (TBCD) Gene

M Mariano - 2020 - research-repository.uwa.edu.au
During fetal brain development, the dynamic properties of microtubule (MT) cytoskeleton
underpin essential functions within fetal brain cells to regulate proliferation, migration, and …

Exploring asymmetries from genes, to brains, to minds: a multimodal neuroimaging approach to the putative role of the NODAL signalling pathway in neurocognitive …

G Romagnoli - 2020 - publications.aston.ac.uk
This thesis investigates the relationship between functional and structural hemispheric
asymmetries, by analysing brain anatomy, neurophysiology, neurocognitive and …