Publications by authors named "Nuria C Bramswig"

24Publications

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

J Endocr Soc 2019 Jul 20;3(7):1383-1389. Epub 2019 May 20.

Pediatric Endocrinology and Diabetology, Children's Hospital, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1210/js.2019-00073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608559PMC
July 2019

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Hum Genet 2017 03 25;136(3):297-305. Epub 2017 Jan 25.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.

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http://dx.doi.org/10.1007/s00439-017-1757-zDOI Listing
March 2017

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.

Clin Dysmorphol 2016 Apr;25(2):73-6

aInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Duisburg and Essen bDepartment of Neonatology, Vest Children's Hospital Datteln, University Witten/Herdecke, Datteln cInstitute of Human Genetics, Biozentrum, University of Würzburg, Würzburg dDepartment of Obstetrics and Prenatal Medicine, University Bonn Medical School, Bonn eInstitute of Pathology, Charite - Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000111DOI Listing
April 2016

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Hum Genet 2015 Oct 12;134(10):1089-97. Epub 2015 Aug 12.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.

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http://dx.doi.org/10.1007/s00439-015-1590-1DOI Listing
October 2015

Epigenetic regulation of the DLK1-MEG3 microRNA cluster in human type 2 diabetic islets.

Cell Metab 2014 Jan 26;19(1):135-45. Epub 2013 Dec 26.

Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2013.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932527PMC
January 2014

Transcriptional and epigenetic regulation in human islets.

Diabetologia 2014 Mar 21;57(3):451-4. Epub 2013 Dec 21.

Department of Genetics, Perelman School of Medicine, University of Pennsylvania, 12-126 Translational Research Center, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00125-013-3150-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945729PMC
March 2014

Epigenomic plasticity enables human pancreatic α to β cell reprogramming.

J Clin Invest 2013 Mar 22;123(3):1275-84. Epub 2013 Feb 22.

Department of Genetics and Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1172/JCI66514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582140PMC
March 2013

Epigenetics and diabetes treatment: an unrealized promise?

Trends Endocrinol Metab 2012 Jun 14;23(6):286-91. Epub 2012 Mar 14.

Department of Genetics and Institute of Diabetes, Obesity & Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.tem.2012.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3367121PMC
June 2012

Organogenesis and functional genomics of the endocrine pancreas.

Cell Mol Life Sci 2012 Jul 13;69(13):2109-23. Epub 2012 Jan 13.

Department of Genetics, Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00018-011-0915-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340510PMC
July 2012

MicroRNAs control intestinal epithelial differentiation, architecture, and barrier function.

Gastroenterology 2010 Nov 24;139(5):1654-64, 1664.e1. Epub 2010 Jul 24.

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19103, USA.

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http://dx.doi.org/10.1053/j.gastro.2010.07.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156097PMC
November 2010