ABSTRACT Variants in the CNTNAP2 gene, encoding the cell adhesion molecule CASPR2, have been identified as genetic risk factors for autism spectrum disorder (ASD). However, the mechanisms through which CNTNAP2 dysfunction alters circuit function remain unknown.
Krisztina Sáfár +10 more
wiley +1 more source
Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene. [PDF]
Li T +6 more
europepmc +1 more source
Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model
ABSTRACT Estimating the prevalence of genetic disorders is complicated by many factors including sampling bias and differing methods of estimation. However, establishing the true prevalence of these disorders is critical for understanding disease burden, pharmacoeconomic modeling, and resource allocation for testing and care.
Tess Levy +22 more
wiley +1 more source
Developmental Profiling of Structural and Functional Maturation in Mouse Corpus Callosum. [PDF]
Johnson H +4 more
europepmc +1 more source
Within the ConcePTION project we set out to design two mother–infant pair studies collecting breast milk and plasma from the mother and plasma from the infant (for metformin and prednisolone) in order to demonstrate the premises and conditions for investigating potential drug transfer in association with breastfeeding.
Mats Hansson +11 more
wiley +1 more source
Lamb behaviours in the first three hours postnatal in the Kivircik breed: associations with growth performance and influencing factors. [PDF]
Ekiz B, Yalcintan H, Kocak O, Kecici PD.
europepmc +1 more source
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis +5 more
wiley +1 more source
Ultrasonographic evaluation of suprahyoid muscle thickness during the transition to full oral feeding in preterm infants. [PDF]
Uygun SS +5 more
europepmc +1 more source
Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul +7 more
wiley +1 more source

