Results 171 to 180 of about 788,741 (309)

Bayesian Analysis of Structural Effects in an Ordered Equation System [PDF]

We describe a new simulation-based algorithm for Bayesian estimation of structural effects in models where the outcome of interest and an endogenous treatment variable are ordered. Our algorithm makes use of a reparameterization, suggested by Nandram and
Li, Mingliang, Tobias, Justin
core  

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Dabigatran Concentrations in an Actively Breastfeeding Mother–Infant Dyad: Extending the Evidence for Oral Thromboprophylaxis Postpartum

American Journal of Hematology, EarlyView.
Rasmus W. Green, Aljona Saleh, Pawel Baranczewski   +2 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Clinical factors associated with severe maternal outcomes in two South African hospitals: A case-control study. [PDF]

PLoS One
Pearl TSB, Duane B, Eckhart B, Freddie S.   +3 more
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Association of Intended Mode of Delivery With Neonatal and Maternal Outcomes at 22-25 Weeks of Gestation. [PDF]

O G Open
Hamilton JL, McGee PL, Sibai BM, Varner MW, Tita ATN, Longo M, Bell EF, Stoll BJ, Thorp JM, Reddy UM, Frey HA, Miller ES, Rouse DJ, Simhan HN, Bailit JL, Dugoff L, Saade GR, Eunice Kennedy Shriver National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network.   +17 more
europepmc   +1 more source

Maternal smoking during pregnancy and birthweight - A propensity score matching approach [PDF]

There is accumulated evidence of the existence of a deleterious effect of smoking on birth outcomes. Understanding the effect of smoking on pregnancy is a critical issue because of the public policy implications for dissuading maternal smoking.
Paula Veiga, Ronald P. Wilder
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Maternal Outcomes Associated with Delayed Cord Clamping in Hypertensive Disorders of Pregnancy: A Cross-Sectional Study. [PDF]

Diseases
Turekulova A, Dzhardemaliyeva N, Rabe H, Kulimbet M.   +3 more
europepmc   +1 more source