Results 221 to 230 of about 58,582 (311)

Developmental Milestones for Children With Down Syndrome: Revised Estimates Using Moving Average Summaries

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Children with Down syndrome follow distinct developmental trajectories that require specialized monitoring and counseling. We aimed to provide updated estimates of developmental milestone attainment using a nonparametric approach and to compare these results with previously reported generalized linear mixed‐effects model (GLMM ...
Rahaf Tarawneh, Katherine Pawlowski, Nicole Baumer, Bo Zhang, Maitreyi Mazumdar   +4 more
wiley   +1 more source

Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo <i>TRIO</i> Variant in Dizygotic Twins. [PDF]

Mol Syndromol
Bouchahta H, Sahli M, Amllal N, Ouhenach M, Sbabou L, Sefiani A.   +5 more
europepmc   +1 more source

Effect of confining pressure on fracture characteristics and mineralogical behavior of tight sandstone specimens after hydraulic fracturing

Deep Underground Science and Engineering, EarlyView.
Hydraulic fracturing in tight sandstone and fracture propagation characteristics using backscattered electron‐scanning electron microscope (BSE‐SEM) images. Abstract This study focuses on hydraulic fracturing experiments conducted under triaxial conditions on tight sandstone specimens from Shivpuri district, Madhya Pradesh, India.
Pankaj Rawat, Narendra Kumar Samadhiya
wiley   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Characterization of a Splice Variant in <i>FLNA</i> Associated With Periventricular Nodular Heterotopia. [PDF]

Neurol Genet
Zhang Y, Huang Y, Huang X, Gao H, Lin J, He X, Li P, Mei L.   +7 more
europepmc   +1 more source

The β integrin modulates serotonin sensitivity via NPxY motifs to regulate egg laying and mechanosensation behaviors in Caenorhabditis elegans

Developmental Dynamics, EarlyView.
Abstract Background Integrin is an αβ heterodimeric receptor to the extracellular matrix; its binding to the matrix recruits focal adhesions to two NPxY motifs, the tyrosine phosphorylation sites in the cytoplasmic domain. Studies found that replacing tyrosines (Y) with phenylalanines (F) in the motif of β1 integrin displayed little developmental or ...
Josh Haram Bumm, Daniel Dogeon Lee, Zhongqiang Qiu, Angela Haeun Choi, Meghana Kolluri, Michael J. Olsen, Lianzijun Wang, Myeongwoo Lee   +7 more
wiley   +1 more source

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation. [PDF]

J Allergy Clin Immunol
Schmitz EG, Paul AJ, Ghosh R, Saucier N, Kolicheski A, Risma SI, McDaniels KP, Liu M, Lewis KL, de Jesus AA, Alehashemi S, Fronick CC, Stein D, Dominguez D, Hiraki LT, Lee JH, Norman S, Peng CR, Ward BR, Pettiford LH, Platt A, Lawrence MG, Rocco JM, Al-Herz W, Zerbe CS, Atkinson TP, Peng XP, Allenspach EJ, Hoytema van Konijnenburg DP, Platt CD, Elkins M, Walter JE, Bleesing JJ, Klion A, Ramaswami R, Uzel G, Lionakis MS, Dissanayake D, Su HC, Cortese I, Fuss IJ, Bergerson JRE, Dropulic L, Sereti I, Lisco A, Itan Y, Milner JD, Bogunovic D, Goldbach-Mansky R, Rao VK, Delmonte OM, Notarangelo LD, Keller MD, Durkee-Shock J, Cohen JI, Similuk MN, Holland SM, Griffith M, Griffith OL, Vogel TP, Canna S, Freeman AF, Walkiewicz MA, Cooper MA.   +63 more
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

A case report of Behcet's disease in a child with trisomy 8 and literature review. [PDF]

Front Pediatr
Zhang K, Wei C, Jiang L, Zhao X, Su Q, Qi X, Zhao H, Rong Z.   +7 more
europepmc   +1 more source