An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient

Autor: Thomas Liehr, Heike Nelle, Peter Burfeind, EA Alsat, Franco Laccone, C Thiels, Gabriela Salinas-Riester, Bernd Auber, Moneef Shoukier, Iris Bartels

Publikováno v: Clinical Genetics. 77:593-597

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3376ee2c488571c0b278daa9c458bccb
https://doi.org/10.1111/j.1399-0004.2009.01363.x

Blood pressure and kidney function in neonates and young infants with intrauterine growth restriction.

Autor: Heuchel KM; Faculty of Medicine, University Bonn, Bonn, Germany., Ebach F; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany., Alsat EA; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany., Reutter H; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany., Mueller A; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany., Hilger AC; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany. Alina.Hilger@uk-erlangen.de.; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany. Alina.Hilger@uk-erlangen.de.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, Erlangen, Germany. Alina.Hilger@uk-erlangen.de.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2023 Apr; Vol. 38 (4), pp. 1223-1232. Date of Electronic Publication: 2022 Sep 02.

DMBT1 amount in amniotic fluid depends on gestational age.

Autor: Blickwedel J; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany., Bagci S; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany., Alsat EA; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany., Strizek B; Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany., Renner M; Institute of Pathology, University of Heidelberg, Heidelberg, Germany., Müller A; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany., Müller H; Neonatology and Pediatric Intensive Care, Department of Pediatrics, University of Marburg, Marburg, Germany.; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Hospital Erlangen, University of Erlangen-Nürnberg, Erlangen, Germany.

Publikováno v: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2022 Dec; Vol. 35 (25), pp. 7058-7064. Date of Electronic Publication: 2021 Jun 09.

Dramatically altered environmental lighting conditions in women with high-risk pregnancy during hospitalization.

Autor: Wieduwilt A; Department of Neonatology and Pediatric Intensive Care Medicine, Children's Hospital, University of Bonn , Bonn, Germany., Alsat EA; Department of Neonatology and Pediatric Intensive Care Medicine, Children's Hospital, University of Bonn , Bonn, Germany., Blickwedel J; Department of Neonatology and Pediatric Intensive Care Medicine, Children's Hospital, University of Bonn , Bonn, Germany., Strizek B; Department of Obstetrics and Prenatal Medicine, University of Bonn , Bonn, Germany., Di Battista C; Engineering and Architecture, University of Lucerne , Lucerne, Switzerland., Lachner AB; Applied Sciences, Munich University , Germany., Plischke H; Applied Sciences, Munich University , Germany., Melaku T; Department of Neonatology and Pediatric Intensive Care Medicine, Children's Hospital, University of Bonn , Bonn, Germany., Müller A; Department of Neonatology and Pediatric Intensive Care Medicine, Children's Hospital, University of Bonn , Bonn, Germany., Bagci S; Department of Neonatology and Pediatric Intensive Care Medicine, Children's Hospital, University of Bonn , Bonn, Germany.

Publikováno v: Chronobiology international [Chronobiol Int] 2020 Aug; Vol. 37 (8), pp. 1201-1206. Date of Electronic Publication: 2020 Aug 04.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Autor: Shoukier M; Institute of Human Genetics, University of Göttingen, Germany. moneef.shoukier@med.unigoettingen.de, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B

Publikováno v: Clinical genetics [Clin Genet] 2013 Jan; Vol. 83 (1), pp. 53-65. Date of Electronic Publication: 2012 Feb 21.