Results 51 to 60 of about 81,827 (263)

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings [PDF]

, 2011
Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology.
Reeves, Roger H, Richtsmeier, Joan, Starbuck, John M   +2 more
core   +1 more source

Molecular characterization of the A52 murine hepatocellular carcinoma cell line

Animal Models and Experimental Medicine, EarlyView.
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman, Eun Jin Sun, Miriam Wankell, Matt A. Field, Ulf Schmitz, Lionel Hebbard   +5 more
wiley   +1 more source

Analysis of the intracellular traffic of IgG in the context of Down syndrome (trisomy 21)

Scientific Reports, 2021
Persons with Down syndrome (DS, trisomy 21) have widespread cellular protein trafficking defects. There is a paucity of data describing the intracellular transport of IgG in the context of endosomal-lysosomal alterations linked to trisomy 21.
R. B. Cejas, M. Tamaño-Blanco, J. G. Blanco   +2 more
doaj   +1 more source

Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84 [PDF]

, 1986
The localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and nonradioactive in situ hybridization techniques with a DNA clone designated L1.84.
A. Brückner, AHN Hopman, AL Jørgensen, AR Mitchell, B Trask, BU Zabel, CD Bloomfield, D Pinkel, GA Rappold, GA Rappold, H Hoehn, H. D. Hager, H. P. Scholl, HF Willard, J Wolfe, J. Landegent, JC Wu, JE Landegent, JE Landegent, L Manuelidis, LA Herzenberg, M Schardin, M Schmid, M Spaeter, M. Schardin, M. van der Ploeg, MM LeBeau, P Devilee, P Devilee, P. Devilee, P. Pearson, T Cremer, T. Cremer, W Schempp   +33 more
core   +1 more source

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

Correlation between telomere shortening in maternal peripheral blood and fetal aneuploidy

BMC Pregnancy and Childbirth
Background This study aimed to assess whether maternal telomere length is a more accurate predictor of trisomy 21 than maternal age while also exploring the factors influencing maternal and fetal telomere length.
Xiao-Xi Zhao, Le Le Bai
doaj   +1 more source

Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report [PDF]

, 2009
Introduction Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18.
Kotb A Metwalley, Hekma S Farghalley, Alaa A Abd-Elsayed   +2 more
core   +2 more sources

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction—A Retrospective Cohort Study of 112 Patients

Children, 2022
Background: Duodenal obstruction (DO) is a congenital anomaly that is highly associated with other anomalies, such as cardiac anomalies and trisomy 21. However, an overview of additional anomalies and patient-specific risk factors for cardiac anomalies ...
Adinda G. H. Pijpers, Laurens D. Eeftinck Schattenkerk, Bart Straver, Petra J. G. Zwijnenburg, Chantal J. M. Broers, Ernest L. W. Van Heurn, Ramon R. Gorter, Joep P. M. Derikx   +7 more
doaj   +1 more source