Publications by authors named "Barbara Mikat"

9Publications

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis.

PeerJ 2018 27;6:e4740. Epub 2018 Jun 27.

Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Nederlands.

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http://dx.doi.org/10.7717/peerj.4740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029584PMC
June 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.

Epigenetics 2016 03 18;11(3):216-26. Epub 2016 Feb 18.

a Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen , Essen , Germany.

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http://dx.doi.org/10.1080/15592294.2016.1145330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854546PMC
March 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

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

Cerebellum Ataxias 2015 16;2:19. Epub 2015 Dec 16.

Department of Neurology, Philipps University of Marburg, Baldinger straße, 53043 Marburg, Germany.

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http://dx.doi.org/10.1186/s40673-015-0038-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681123PMC
December 2015

βhCG and PAPP-A in first trimester: predictive factors for preeclampsia?

Hypertens Pregnancy 2012 9;31(2):261-7. Epub 2011 Dec 9.

Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.3109/10641955.2011.638956DOI Listing
September 2012