Results 31 to 40 of about 1,324,455 (379)

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Practical Stepwise Approach to Performing Neonatal Brain MR Imaging in the Research Setting

Children, 2023
Magnetic resonance imaging (MRI) is a non-invasive imaging technique that is commonly used for the visualization of newborn infant brains, both for clinical and research purposes.
Regan King, Selma Low, Nancy Gee, Roger Wood, Bonny Hadweh, Joanne Houghton, Lara M. Leijser   +6 more
doaj   +1 more source

Parents’ Knowledge of Danger Signs and Health Seeking Behavior in Newborn and Young Infant Illness in Tiro Afeta District, Southwest Ethiopia: A Community-based Study [PDF]

, 2019
BACKGROUND: Neonatal mortality rates in Ethiopia are among the highest in the world. Reducing neonatal and young infant mortality highly relies on early recognition of symptoms and appropriate care-seeking behavior of parents/care givers. The main aim of
Berhane, Melkamu, Jibat, Nega, Yimam, Hadiya, Zewdu, Mesfin   +3 more
core   +2 more sources

Sialylated Oligosaccharides and Glycoconjugates of Human Milk. The Impact on Infant and Newborn Protection, Development and Well-Being

Nutrients, 2019
Human milk not only has nutritional value, but also provides a wide range of biologically active molecules, which are adapted to meet the needs of newborns and infants.
Jolanta Lis-Kuberka, M. Orczyk-Pawiłowicz   +1 more
semanticscholar   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

A Proposal for a New Method of Evaluation of the Newborn Infant

Anesthesia and Analgesia, 2015
In this article, Apgar described her innovative method for assessing the viability of newborn infants by assigning "scores" of 0, 1, or 2 to the infant's respiration, pulse, color, muscle tone, and response to stimuli one minute after birth.
Virginia Apgar
semanticscholar   +1 more source

Thrombosis in newborn infants [PDF]

Archivos Argentinos de Pediatria, 2016
The incidence of thrombosis is higher among newborn infants than in any other stage of pediatric development. This fact is the consequence of labile characteristics of the neonatal hemostatic system, in addition to exposure to multiple risk factors and the wide use of vascular catheters.
Myriam Attie, Viviana Bacciedoni, Hugo Donato, Oncología y Medicina Transfusional Comité Nacional de Hematología   +3 more
openaire   +2 more sources

Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths

Journal of the American Medical Association (JAMA), 2017
Importance In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown. Objective To assess
Rahi Abouk, S. Grosse, E. Ailes, M. Oster   +3 more
semanticscholar   +1 more source

The influence of infant irritability on maternal sensitivity in a sample of very premature infants [PDF]

, 2003
The relationship between maternal sensitivity and infant irritability was investigated in a short-term longitudinal study of 29 very preterm infants.
Balleyguier, Beckwith, Bell, Biringen, Brazelton, Crnic, Crockenberg, Crockenberg, De Wolff, Fish, Fish, Gewirtz, Hubbard, Kaye, Lucas, Oberklaid, Seifer, St. James-Roberts, St. James-Roberts, St. James-Roberts, van den Boom, Washington, Wolke, Wolke, Wolke, Zahr   +25 more
core   +1 more source

What do we really know about newborn infant pain? [PDF]

, 2015
Increased awareness of pain in the newborn has led to the development of numerous assessment tools for use in neonatal intensive care units. Here, I argue that we still know too little about the neurophysiological basis for infant pain to interpret data ...
Fitzgerald, M
core   +1 more source