Results 21 to 30 of about 167,721 (218)

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +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

Chronological changes of incidence and prognosis of children with asymptomatic congenital cytomegalovirus infection in Sapporo, Japan

BMC Infectious Diseases, 2004
Background Chronological changes of the incidence of congenital cytomegalovirus (CMV) infection and the longitudinal prognosis in children with asymptomatic congenital infection were investigated.
Fujikawa Tomoko, Numazaki Kei
doaj   +1 more source

The modern view of congenital Сytomegalovirus infection

Детские инфекции (Москва), 2019
Congenital cytomegalovirus infection (CMVI) ranks first among congenital infections, making contribution significantly to the variety of congenital defects formation.
N. V. Kholodnova, L. N. Mazankova, A. A. Volter, I. E. Turina   +3 more
doaj   +1 more source

Congenital cutaneous candidiasis in a premature neonate: A case report

Clinical Case Reports, 2022
Congenital cutaneous candidiasis (CCC) is a rare and usually benign disorder that develops within the first week of life. It predominantly presents with diffuse maculopapular and papulopustular erythematous desquamating patches.
Jose Ricardo Ruiz‐Cabrera, Daniela Meléndrez‐Vásquez, Diana Melissa Moreno, Reinaldo Prieto‐Jure   +3 more
doaj   +1 more source

The Placental Response to Guinea Pig Cytomegalovirus Depends Upon the Timing of Maternal Infection

Frontiers in Immunology, 2021
Human cytomegalovirus (HCMV) infects the placenta, and these placental infections can cause fetal injury and/or demise. The timing of maternal HCMV infection during pregnancy is a determinant of fetal outcomes, but how development affects the placenta’s ...
Zachary W. Berkebile, Dira S. Putri, Juan E. Abrahante, Davis M. Seelig, Mark R. Schleiss, Craig J. Bierle   +5 more
doaj   +1 more source

OMIC Technologies and Vaccine Development: From the Identification of Vulnerable Individuals to the Formulation of Invulnerable Vaccines

Journal of Immunology Research, 2019
Routine vaccination is among the most effective clinical interventions to prevent diseases as it is estimated to save over 3 million lives every year. However, the full potential of global immunization programs is not realised because population coverage
Nicola Cotugno, Alessandra Ruggiero, Veronica Santilli, Emma Concetta Manno, Salvatore Rocca, Sonia Zicari, Donato Amodio, Manuela Colucci, Paolo Rossi, Ofer Levy, Federico Martinon-Torres, Andrew J. Pollard, Paolo Palma   +12 more
doaj   +1 more source

Congenital Rubella Syndrome with Blueberry Muffin Lesions and Extensive Metaphysitis [PDF]

Journal of Clinical and Diagnostic Research, 2014
We report a case of Congenital Rubella Syndrome (CRS) in a newborn. The baby had blueberry muffin skin lesions, long bone metaphysitis and congenital heart defects.
Mohemmed Ajij, Sushma Nangia, Bhavna Sharma Dubey   +2 more
doaj   +1 more source

Human Cytomegalovirus Infection Changes the Pattern of Surface Markers of Small Extracellular Vesicles Isolated From First Trimester Placental Long-Term Histocultures

Frontiers in Cell and Developmental Biology, 2021
Extracellular vesicles (EVs) have increasingly been recognized as key players in a wide variety of physiological and pathological contexts, including during pregnancy.
Mathilde Bergamelli, Hélène Martin, Mélinda Bénard, Mélinda Bénard, Jérôme Ausseil, Jérôme Ausseil, Jean-Michel Mansuy, Ilse Hurbain, Ilse Hurbain, Maïlys Mouysset, Marion Groussolles, Marion Groussolles, Marion Groussolles, Géraldine Cartron, Yann Tanguy le Gac, Nathalie Moinard, Nathalie Moinard, Elsa Suberbielle, Jacques Izopet, Jacques Izopet, Charlotte Tscherning, Graça Raposo, Graça Raposo, Daniel Gonzalez-Dunia, Gisela D’Angelo, Cécile E. Malnou   +25 more
doaj   +1 more source

Assessing Olfaction Using Ultrasonic Vocalization Recordings in Mouse Pups with a Sono-olfactometer [PDF]

Bio-protocol , Bio-protocol LCC, 2019, 9 (4), 2019
Olfaction is the first sensory modality to develop during fetal life in mammals, and plays a key role in the various behaviors of neonates such as feeding and social interaction. Odorant cues (i.e., mother or predator scents) can trigger potentiation or inhibition of ultrasonic vocalizations (USV) emitted by pups following their isolation.
arxiv   +1 more source