Publications by authors named "Alma Kuechler"

66Publications

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

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Hum Genet 2018 May 23;137(5):401-411. Epub 2018 May 23.

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-018-1892-1DOI Listing
May 2018

Cochlear Implantation in Siblings With Refsum's Disease.

Ann Otol Rhinol Laryngol 2017 Aug 6;126(8):611-614. Epub 2017 Jul 6.

1 Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, Essen, Germany.

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http://dx.doi.org/10.1177/0003489417717269DOI Listing
August 2017

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Mol Cell Probes 2015 Oct 13;29(5):330-4. Epub 2015 Jul 13.

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

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http://dx.doi.org/10.1016/j.mcp.2015.07.003DOI Listing
October 2015

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

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

Clin Dysmorphol 2014 Apr;23(2):67-70

aInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany bMedical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000035DOI Listing
April 2014

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

Am J Med Genet A 2013 Feb 10;161A(2):295-300. Epub 2013 Jan 10.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35735DOI Listing
February 2013

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Am J Med Genet A 2011 Aug 7;155A(8):1857-64. Epub 2011 Jul 7.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34072DOI Listing
August 2011

Wiedemann-Steiner syndrome: three further cases.

Am J Med Genet A 2010 Sep;152A(9):2372-5

Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33587DOI Listing
September 2010

Comet fluorescence in situ hybridization analysis for oxidative stress-induced DNA damage in colon cancer relevant genes.

Toxicol Sci 2007 Apr 27;96(2):279-84. Epub 2006 Dec 27.

Institute for Nutrition, Dornburger Strasse 25, Friedrich-Schiller-University Jena, 07743 Jena, Germany.

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http://dx.doi.org/10.1093/toxsci/kfl197DOI Listing
April 2007

Cytogenetic instability in young patients with multiple primary cancers.

Cancer Genet Cytogenet 2005 Feb;157(1):25-32

Department of Radiation Oncology, Friedrich-Alexander-University Erlangen-Nuremberg, Universitätsstrasse 27, D-91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.cancergencyto.2004.05.018DOI Listing
February 2005

Impact of various parameters in detecting chromosomal aberrations by FISH to describe radiosensitivity.

Strahlenther Onkol 2004 May;180(5):289-96

Division of Radiobiology, Department of Radiotherapy, Erlangen, Germany.

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http://dx.doi.org/10.1007/s00066-004-1200-yDOI Listing
May 2004

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.

Hum Mutat 2004 Apr;23(4):368-78

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

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http://dx.doi.org/10.1002/humu.20011DOI Listing
April 2004

Residual chromosomal damage after radiochemotherapy with and without amifostine detected by 24-color FISH.

Strahlenther Onkol 2003 Jul;179(7):493-8

Department of Radiation Oncology, Friedrich Schiller University, Jena, Germany.

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http://dx.doi.org/10.1007/s00066-003-1095-zDOI Listing
July 2003

Human adenoma cells are highly susceptible to the genotoxic action of 4-hydroxy-2-nonenal.

Mutat Res 2003 May;526(1-2):19-32

Department of Nutritional Toxicology, Institute for Nutrition, Friedrich Schiller University Jena, Dornburger Strasse 25, Germany.

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http://dx.doi.org/10.1016/s0027-5107(03)00012-5DOI Listing
May 2003

Microdissection based high resolution multicolor banding for all 24 human chromosomes.

Int J Mol Med 2002 Apr;9(4):335-9

Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany.

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April 2002