Cost-effectiveness of a screening strategy for Q fever among pregnant women in risk areas: a clustered randomized controlled trial

Autor: Lo-Ten-Foe Jerome R, Meekelenkamp Jamie, de Vries Esther, Hamilton Carl JCM, Stolk Ronald P, Riphagen-Dalhuisen Josien, Rietveld Ariene, Schneeberger Peter M, van der Hoek Wim, Leenders Alexander CAP, Munster Janna M, Timmer Albertus, De Jong - van den Berg Lolkje TW, Aarnoudse Jan G, Hak Eelko

Publikováno v: BMC Women's Health, Vol 10, Iss 1, p 32 (2010)

Abstract Background In The Netherlands the largest human Q fever outbreak ever reported in the literature is currently ongoing with more than 2300 notified cases in 2009. Pregnant women are particularly at risk as Q fever during pregnancy may cause m

Externí odkaz: https://doaj.org/article/70f6aaedc4604d0ebaff4a31294462d7

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Autor: von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Chai G; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China., Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Casar C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Qi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Centre of Excellence for Human Genetics, National Research Centre, Cairo 12311, Egypt., Arndt F; Department for Pediatric Cardiology, University Heart & Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Yang X; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Stanley V; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Publikováno v: Brain : a journal of neurology [Brain] 2022 May 24; Vol. 145 (4), pp. 1551-1563.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Autor: Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin 682041, Kerala, India., Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin 682041, Kerala, India., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Knisely AS; Institut für Pathologie, Medizinische Universität Graz, 8010 Graz, Austria., Müller T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria., Plecko B; Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8010 Graz, Austria., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Publikováno v: Brain : a journal of neurology [Brain] 2021 Nov 29; Vol. 144 (10), pp. 3036-3049.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Autor: Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Patil SJ; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Arun KM; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Suresh PV; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Kiran VS; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Siddaiah S; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Maiya S; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Venkatachalagupta SK; Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Rau I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Wey-Fabrizius A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Van Den Heuvel L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Meester J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Loeys B; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. girish.katta@manipal.edu., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de.

Publikováno v: Scientific reports [Sci Rep] 2021 Jan 12; Vol. 11 (1), pp. 764. Date of Electronic Publication: 2021 Jan 12.

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Autor: Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Nov; Vol. 182 (11), pp. 2793-2796. Date of Electronic Publication: 2020 Aug 11.