Teresa M Neuhann

Teresa M Neuhann

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Teresa M Neuhann

Teresa M Neuhann

Publications by authors named "Teresa M Neuhann"

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12Publications

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A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

J Hum Genet 2017 Feb 8;62(2):325-328. Epub 2016 Sep 8.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/jhg.2016.111DOI Listing
February 2017

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 2016

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Am J Med Genet A 2015 Oct 14;167A(10):2376-81. Epub 2015 May 14.

Klinische Genetik, Universitätskinderklinik, Paracelsus Medizinische Privatuniversität, Salzburg, Austria.

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http://dx.doi.org/10.1002/ajmg.a.37157DOI Listing
October 2015

Generalized epilepsy in two patients with 5p duplication.

Neuropediatrics 2013 Aug 12;44(4):225-9. Epub 2013 Mar 12.

Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.

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http://dx.doi.org/10.1055/s-0033-1333872DOI Listing
August 2013

Macrocerebellum: significance and pathogenic considerations.

Cerebellum 2012 Dec;11(4):1026-36

Department of Pediatric Neurology, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s12311-012-0379-1DOI Listing
December 2012

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.

BMC Cancer 2012 Nov 20;12:531. Epub 2012 Nov 20.

Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1186/1471-2407-12-531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537684PMC
November 2012

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

Invest Ophthalmol Vis Sci 2011 Feb 3;52(2):695-700. Epub 2011 Feb 3.

Institute of Clinical Genetics, Dresden, Germany.

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http://dx.doi.org/10.1167/iovs.10-5740DOI Listing
February 2011

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Am J Med Genet A 2010 Nov;152A(11):2908-11

Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33692DOI Listing
November 2010