Vera Kalscheuer

Vera Kalscheuer

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Vera Kalscheuer

Publications by authors named "Vera Kalscheuer"

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Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Hum Mutat 2019 Aug 14;40(8):1057-1062. Epub 2019 May 14.

Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/humu.23775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688968PMC
August 2019

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Am J Med Genet A 2019 01 14;179(1):13-19. Epub 2018 Dec 14.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.40531DOI Listing
January 2019

variants: Improving our understanding of a rare neurologic disorder.

Neurol Genet 2017 Dec 15;3(6):e200. Epub 2017 Dec 15.

Institute of Neuroscience & Psychology (R.D.H., S.R.C.), University of Glasgow, UK, Drs. Hector and Cobb are currently with the Patrick Wild Centre and Centre for Discovery Brain Science, University of Edinburgh, UK; Group Development and Disease (V.M.K., F.H.), Max Planck Institute for Molecular Genetics, Berlin, Germany; Telethon Kids Institute (H.L., J.D.), The University of Western Australia, Perth, Western Australia; School of Physiotherapy and Exercise Science (J.D.), Curtin University, Perth, Australia; Institute of Medical Genetics (A.C.), School of Medicine, Cardiff University, Cardiff, Wales, UK; Departments of Pediatrics, Pharmacology, Neurology and Otolaryngology (T.A.B.), University of Colorado School of Medicine, Aurora, CO; Paedriatic Neuroscience (J.A., M.P.), Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain; Hospital Sant Joan de Déu Barcelona (J.A.), Esplugues de Llobregat, Spain; CIBERER (J.A.), Barcelona, Spain; Neuropediatrics (M.P.), Fundació Sant Joan de Déu, Esplugues de Llobregat, Spain; and School of Life Sciences (M.E.S.B.), College of Medical, Veterinary and Life Sciences, University of Glasgow, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732004PMC
December 2017

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

Eur J Hum Genet 2017 09 14;25(9):1078-1082. Epub 2017 Jun 14.

The Robinson Research Institute, The University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558180PMC
September 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446782PMC
June 2017

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene 2017 Mar 16;605:92-98. Epub 2016 Dec 16.

Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.12.013DOI Listing
March 2017

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.

Mol Cytogenet 2016 30;9:57. Epub 2016 Jul 30.

Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA USA ; Department of Neuroscience & Regenerative Medicine, Augusta University, Augusta, GA 30912 USA ; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, GA 30912 USA.

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http://dx.doi.org/10.1186/s13039-016-0264-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967518PMC
August 2016

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Eur J Med Genet 2015 Jun-Jul;58(6-7):364-8. Epub 2015 Apr 28.

Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.004DOI Listing
March 2016

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

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Hum Mutat 2015 Dec 10;36(12):1176-87. Epub 2015 Sep 10.

Department of Biochemistry and Biophysics, University of Rochester School of Medicine, Rochester, New York, 14642.

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http://dx.doi.org/10.1002/humu.22897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643400PMC
December 2015

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16.

Biochem J 2015 Aug 11;469(3):409-20. Epub 2015 Jun 11.

Nestlé Institute of Health Sciences SA, EPFL Innovation Park, bâtiment G, 1015 Lausanne, Switzerland School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1015 Lausanne, Switzerland

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http://dx.doi.org/10.1042/BJ20150486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613515PMC
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Hum Mol Genet 2015 Jun 3;24(12):3335-47. Epub 2015 Mar 3.

School of Paediatrics and Reproductive Health, Robinson Research Institute and School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide 5000, Australia,

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http://dx.doi.org/10.1093/hmg/ddv083DOI Listing
June 2015

[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].

Duodecim 2014 ;130(21):2202-5

Päijät-Hämeen sosiaali- ja terveydenhuollon kuntayhtymä.

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January 2015

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Hum Mol Genet 2014 Dec 1;23(23):6163-76. Epub 2014 Jul 1.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen N DK-2200, Denmark,

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http://dx.doi.org/10.1093/hmg/ddu337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222360PMC
December 2014

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Ann Neurol 2014 Nov 4;76(5):758-64. Epub 2014 Oct 4.

Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Anatomical Pathology and Cytopathology, Calgary Laboratory Services, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ana.24274DOI Listing
November 2014

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

J Med Genet 2014 Jul 8;51(7):487-94. Epub 2014 May 8.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Diseases, Radboud university medical center, Nijmegen, The Netherlands.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-102182
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http://dx.doi.org/10.1136/jmedgenet-2013-102182DOI Listing
July 2014

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

BMC Med Genet 2014 Jun 25;15:72. Epub 2014 Jun 25.

Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany.

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http://dx.doi.org/10.1186/1471-2350-15-72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077152PMC
June 2014

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Am J Med Genet A 2014 Mar 19;164A(3):789-95. Epub 2013 Dec 19.

Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.36348DOI Listing
March 2014

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Hum Mutat 2014 Mar 13;35(3):350-5. Epub 2014 Jan 13.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium; Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22498DOI Listing
March 2014

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

Hum Mol Genet 2013 Sep 21;22(18):3789-97. Epub 2013 May 21.

Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, SC 29634, USA.

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http://dx.doi.org/10.1093/hmg/ddt229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749864PMC
September 2013

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation.

EMBO Mol Med 2013 Sep 22;5(9):1431-42. Epub 2013 Aug 22.

Laboratory for Novel Sequencing Technology, Functional and Medical Genomics, Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Berlin, Germany.

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http://dx.doi.org/10.1002/emmm.201302663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799496PMC
September 2013

Synaptic MAGUK multimer formation is mediated by PDZ domains and promoted by ligand binding.

Chem Biol 2013 Aug;20(8):1044-54

Neuroscience Research Center and Cluster of Excellence NeuroCure, Charité-Universitätsmedizin, 10117 Berlin, Germany.

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http://dx.doi.org/10.1016/j.chembiol.2013.06.016DOI Listing
August 2013

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Eur J Med Genet 2013 Jul 27;56(7):379-82. Epub 2013 May 27.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.005DOI Listing
July 2013

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

Hum Genet 2013 Apr 18;132(4):461-71. Epub 2013 Jan 18.

Neuroscience Research Center, Charité CrossOver, Charité-Universitaetsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10117 Berlin, Germany.

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http://dx.doi.org/10.1007/s00439-012-1260-5DOI Listing
April 2013

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

Front Genet 2013 16;4:54. Epub 2013 Apr 16.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark ; Section for Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark.

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http://dx.doi.org/10.3389/fgene.2013.00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627139PMC
April 2013

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

Proc Natl Acad Sci U S A 2012 Sep 21;109(36):14514-9. Epub 2012 Aug 21.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.

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http://dx.doi.org/10.1073/pnas.1207488109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437887PMC
September 2012

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

Bioinformatics 2012 Mar 11;28(5):619-27. Epub 2012 Jan 11.

Department of Computer Science, Freie Universität Berlin, Takustrasse 9, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/bts019DOI Listing
March 2012

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Am J Med Genet A 2011 Dec 14;155A(12):3067-70. Epub 2011 Oct 14.

Humangenetik Ulm MVZ, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34291DOI Listing
December 2011

Modeling read counts for CNV detection in exome sequencing data.

Stat Appl Genet Mol Biol 2011 Nov 8;10(1). Epub 2011 Nov 8.

Max Planck Institute for Molecular Genetics.

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http://dx.doi.org/10.2202/1544-6115.1732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517018PMC
November 2011

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.

Eur J Med Genet 2011 Jul-Aug;54(4):e383-8. Epub 2011 Mar 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110004
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http://dx.doi.org/10.1016/j.ejmg.2011.03.008DOI Listing
October 2011

Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations.

Clin Dysmorphol 2010 Jul;19(3):157-60

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.

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http://dx.doi.org/10.1097/MCD.0b013e3283375886DOI Listing
July 2010

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

J Cell Sci 2010 Jun 18;123(Pt 12):2045-57. Epub 2010 May 18.

Signal Transduction in Pain and Mental Retardation, Department for Molecular Human Genetics, Max-Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1242/jcs.065144DOI Listing
June 2010

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Am J Hum Genet 2008 May 10;82(5):1165-70. Epub 2008 Apr 10.

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427221PMC
May 2008

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.

Eur J Hum Genet 2006 Dec 23;14(12):1317-20. Epub 2006 Aug 23.

Department Ropers, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201707DOI Listing
December 2006

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Hum Genet 2006 Sep 17;120(2):179-86. Epub 2006 Jun 17.

Institute for Human Genetics, Mainz University School of Medicine, 55101, Mainz, Germany.

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http://dx.doi.org/10.1007/s00439-006-0215-0DOI Listing
September 2006

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.

Eur J Med Genet 2006 May-Jun;49(3):215-23. Epub 2005 Aug 25.

Biology and Genetics Division, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120500121
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http://dx.doi.org/10.1016/j.ejmg.2005.07.004DOI Listing
July 2006

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

Eur J Med Genet 2006 May-Jun;49(3):225-34. Epub 2005 Aug 19.

Institute of Pathology, University Hospital Giessen, Langhansstr: 10, D 35392 Giessen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2005.07.002DOI Listing
July 2006