Ute Moog

Ute Moog

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Ute Moog

Publications by authors named "Ute Moog"

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What do parents expect from a genetic diagnosis of their child with intellectual disability?

J Appl Res Intellect Disabil 2019 Sep 15;32(5):1129-1137. Epub 2019 Apr 15.

Section for Neuropediatrics and Inborn Errors of Metabolism, University Children's Hospital, Clinic I, Heidelberg, Germany.

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http://dx.doi.org/10.1111/jar.12602DOI Listing
September 2019

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.

Am J Med Genet C Semin Med Genet 2018 12;178(4):414-422

Department of Pediatrics, University of Washington, Seattle, Washington.

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http://doi.wiley.com/10.1002/ajmg.c.31667
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http://dx.doi.org/10.1002/ajmg.c.31667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501825PMC
December 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Am J Med Genet A 2017 Jul 10;173(7):1878-1886. Epub 2017 May 10.

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

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http://dx.doi.org/10.1002/ajmg.a.38252DOI Listing
July 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.

Fam Cancer 2017 04;16(2):303-309

Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10689-016-9952-y
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http://dx.doi.org/10.1007/s10689-016-9952-yDOI Listing
April 2017

Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports.

European J Pediatr Surg Rep 2016 Dec 13;4(1):17-21. Epub 2016 May 13.

Department of Pediatric Surgery and Urology, Cnopfsche Kinderklinik, Nürnberg, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1582443
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http://dx.doi.org/10.1055/s-0036-1582443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177561PMC
December 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

J Med Genet 2016 Feb 26;53(2):98-110. Epub 2015 Oct 26.

Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752661PMC
February 2016

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

Am J Med Genet A 2014 Dec 24;164A(12):3088-94. Epub 2014 Sep 24.

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

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http://dx.doi.org/10.1002/ajmg.a.36770DOI Listing
December 2014

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.

Am J Med Genet A 2014 Nov 22;164A(11):2947-51. Epub 2014 Sep 22.

Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36727DOI Listing
November 2014

Genome-wide UPD screening in patients with intellectual disability.

Eur J Hum Genet 2014 Oct 7;22(10):1233-5. Epub 2014 May 7.

1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169544PMC
October 2014

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

Fam Cancer 2012 Sep;11(3):529-33

Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10689-012-9538-2DOI Listing
September 2012

A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.

Am J Med Genet A 2012 Mar 2;158A(3):680-4. Epub 2012 Feb 2.

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

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http://dx.doi.org/10.1002/ajmg.a.34433DOI Listing
March 2012

Rett syndrome: a study of the face.

Am J Med Genet A 2011 Jul 27;155A(7):1563-7. Epub 2011 May 27.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.34027
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http://dx.doi.org/10.1002/ajmg.a.34027DOI Listing
July 2011

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Am J Med Genet A 2011 Feb 28;155A(2):372-9. Epub 2010 Oct 28.

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

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http://dx.doi.org/10.1002/ajmg.a.33656DOI 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

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment.

Authors:
Ute Moog

Acta Psychiatr Scand 2010 Aug 22;122(2):166. Epub 2009 Dec 22.

Institute of Human Genetics, Heidelberg University, Germany.

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http://doi.wiley.com/10.1111/j.1600-0447.2009.01520.x
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http://dx.doi.org/10.1111/j.1600-0447.2009.01520.xDOI Listing
August 2010

Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism.

BMJ Case Rep 2010 May 19;2010. Epub 2010 May 19.

University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Mannheim, Germany.

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http://dx.doi.org/10.1136/bcr.08.2009.2214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047285PMC
May 2010

Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.

Int J Dermatol 2008 Nov;47 Suppl 1:52-5

Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.

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http://doi.wiley.com/10.1111/j.1365-4632.2008.03962.x
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http://dx.doi.org/10.1111/j.1365-4632.2008.03962.xDOI Listing
November 2008

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Am J Med Genet A 2007 Dec;143A(24):2973-80

Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31957DOI Listing
December 2007

Brain anomalies in encephalocraniocutaneous lipomatosis.

Am J Med Genet A 2007 Dec;143A(24):2963-72

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

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http://dx.doi.org/10.1002/ajmg.a.32074DOI Listing
December 2007

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

Am J Med Genet C Semin Med Genet 2007 Aug;145C(3):293-301

Department of Clinical Genetics, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.30142DOI Listing
August 2007

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.

Brain Dev 2006 Jun 10;28(5):305-10. Epub 2006 Jan 10.

Department of Clinical Genetics, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040500212
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http://dx.doi.org/10.1016/j.braindev.2005.10.007DOI Listing
June 2006

The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes.

Authors:
Ute Moog

Am J Med Genet A 2005 Aug;137(2):228-31

Department of Clinical Genetics, University Hospital Maastricht, PO Box 5000, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30841DOI Listing
August 2005

The decision evaluation scales.

Patient Educ Couns 2005 Jun;57(3):286-93

Medical Technology Assessment, University Medical Centre Nijmegen, Postbus 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.pec.2004.07.010DOI Listing
June 2005

Development and characterization of chloroplast microsatellite markers in Macaranga (Euphorbiaceae).

Genome 2003 Oct;46(5):845-57

Department of Sciences, University of Kassel, Germany.

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http://www.nrcresearchpress.com/doi/10.1139/g03-068
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http://dx.doi.org/10.1139/g03-068DOI Listing
October 2003

Chromosome bands and ends revisited.

Am J Med Genet A 2003 Aug;121A(1):88-9

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http://dx.doi.org/10.1002/ajmg.a.20153DOI Listing
August 2003

Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.

Genet Med 2002 Nov-Dec;4(6):464-7

Division of Genetics, Department of Pediatrics, University California, Irvine, California 92697, USA.

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http://dx.doi.org/10.1097/00125817-200211000-00011DOI Listing
May 2003

Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.

Clin Dysmorphol 2003 Jan;12(1):35-9

Department of Clinical Genetics, University Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands.

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http://dx.doi.org/10.1097/00019605-200301000-00006DOI Listing
January 2003

Thrips pollination of the dioecious ant plant Macaranga hullettii (Euphorbiaceae) in Southeast Asia.

Am J Bot 2002 Jan;89(1):50-9

Department of Zoology, J.W. Goethe-University of Frankfurt, Siesmayerstr. 70, D-60054 Frankfurt, Germany;

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http://dx.doi.org/10.3732/ajb.89.1.50DOI Listing
January 2002