Oliver Bartsch

Oliver Bartsch

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Oliver Bartsch

Oliver Bartsch

Publications by authors named "Oliver Bartsch"

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Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Clin Dysmorphol 2019 Jul;28(3):137-141

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553355PMC
July 2019

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Clin Dysmorphol 2019 Jul;28(3):142-144

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000268DOI Listing
July 2019

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Hum Mol Genet 2018 04;27(8):1343-1352

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1093/hmg/ddy045DOI Listing
April 2018

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

Ear Hear 2016 Jul-Aug;37(4):e238-46

1Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany; 2Institute of Human Genetics, 3Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany; and 4Division of Communication Disorders, Department of Otorhinolaryngology, University Medical Centre, Mainz, Germany.

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http://dx.doi.org/10.1097/AUD.0000000000000278DOI Listing
January 2018

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Orphanet J Rare Dis 2018 01 26;13(1):23. Epub 2018 Jan 26.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.

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http://dx.doi.org/10.1186/s13023-018-0763-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787287PMC
January 2018

De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.

Clin Dysmorphol 2017 Jul;26(3):187-189

aMedical Genetics Laboratory, Victor Babes National Institute of Pathology bDepartment of Pediatric Neurology cDepartment of Child and Adolescent Psychiatry, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania dInstitute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000180DOI Listing
July 2017

Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.

Am J Med Genet A 2017 04;173(4):1090-1093

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.38107
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http://dx.doi.org/10.1002/ajmg.a.38107DOI Listing
April 2017

Chest Radiograph as Diagnostic Clue in a Floppy Infant.

J Pediatr 2016 Oct 26;177:324-324.e1. Epub 2016 Jul 26.

Department of Neonatology Department of Pediatrics University Medical Center of the Johannes Gutenberg-University Mainz Mainz, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2016.06.065DOI Listing
October 2016

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

Clin Dysmorphol 2016 Apr;25(2):50-3

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000117DOI Listing
April 2016

FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Hum Mol Genet 2015 Dec 11;24(23):6699-710. Epub 2015 Sep 11.

Centre for Reproductive Health, Hudson Institute of Medical Research, Melbourne, Australia, Department of Anatomy and Developmental Biology,

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http://hmg.oxfordjournals.org/content/24/23/6699.full.pdf
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
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http://dx.doi.org/10.1093/hmg/ddv374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634374PMC
December 2015

Key features and clinical variability of COG6-CDG.

Mol Genet Metab 2015 Nov 29;116(3):163-70. Epub 2015 Jul 29.

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153003
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http://dx.doi.org/10.1016/j.ymgme.2015.07.003DOI Listing
November 2015

Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

Fam Cancer 2015 Mar;14(1):161-5

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstraße 1, 55131, Mainz, Germany,

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http://dx.doi.org/10.1007/s10689-014-9754-zDOI Listing
March 2015

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Am J Med Genet A 2015 Feb 30;167A(2):394-9. Epub 2014 Oct 30.

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36838DOI Listing
February 2015

Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR.

EBioMedicine 2015 Feb 15;2(2):158-64. Epub 2015 Jan 15.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.

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http://dx.doi.org/10.1016/j.ebiom.2015.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484817PMC
February 2015

NDST1 missense mutations in autosomal recessive intellectual disability.

Am J Med Genet A 2014 Nov 14;164A(11):2753-63. Epub 2014 Aug 14.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36723DOI Listing
November 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

Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

J Clin Endocrinol Metab 2014 Mar 1;99(3):E489-96. Epub 2014 Jan 1.

Institute of Clinical Chemistry and Laboratory Medicine (J.K.B., S.S., K.J.L., H.R.), Institute of Pathology (A.S., E.S.), Department of Endocrinology and Metabolism, I Medical Department (M.M.W., C.F.), Department of Otorhinolaryngology (K.P., D.K., W.J.M.), Department of Endocrine Surgery (T.J.M.), Department of Nuclear Medicine (M.M.), and Institute of Human Genetics (O.B.), University Medical Center Mainz, 55131 Mainz, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2013-3486DOI Listing
March 2014

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.

Gene 2013 Dec 20;531(2):510-3. Epub 2013 Sep 20.

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.07.046DOI Listing
December 2013

High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET.

Eur J Nucl Med Mol Imaging 2013 Jun 2;40(6):889-96. Epub 2013 Feb 2.

Department of Nuclear Medicine, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1007/s00259-013-2346-6DOI Listing
June 2013

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

Behav Brain Funct 2013 Feb 18;9. Epub 2013 Feb 18.

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, D-55101, Mainz, Germany.

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http://dx.doi.org/10.1186/1744-9081-9-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599919PMC
February 2013

The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genes.

Clin Oral Investig 2013 Jan;17(1):123-30

Department of Oral and Maxillofacial Surgery, University Medical Center of the Johannes Gutenberg-University of Mainz, Augustusplatz 2, 55131 Mainz, Germany.

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http://dx.doi.org/10.1007/s00784-012-0676-6DOI Listing
January 2013

Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.

Gene 2012 Oct;508(1):117-20

Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119120090
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http://dx.doi.org/10.1016/j.gene.2012.07.053DOI Listing
October 2012

Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

Am J Med Genet A 2012 Sep 27;158A(9):2283-9. Epub 2012 Jul 27.

Department of Oral and Maxillofacial Surgery, Plastic Reconstruction, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35493DOI Listing
September 2012

Head and neck paragangliomas: Report of 175 patients (1989-2010).

Head Neck 2012 May 20;34(5):632-7. Epub 2011 Jun 20.

Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/hed.21790DOI Listing
May 2012

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

Eur J Med Genet 2012 Jan 27;55(1):49-55. Epub 2011 Aug 27.

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.08.001DOI Listing
January 2012

Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism.

J Appl Genet 2011 Aug 5;52(3):331-4. Epub 2011 Apr 5.

Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1007/s13353-011-0041-5DOI Listing
August 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

Rubinstein-Taybi syndrome (CREBBP, EP300).

Eur J Hum Genet 2011 Jan 28;19(1):preceeding 118-20. Epub 2010 Jul 28.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039496PMC
January 2011

Inheritance and variable expression in Rubinstein-Taybi syndrome.

Am J Med Genet A 2010 Sep;152A(9):2254-61

Institut für Humangenetik, Universitätsmedizin der Johannes-Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33598DOI Listing
September 2010

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

Am J Med Genet A 2010 Aug;152A(8):2099-102

Johannes Gutenberg-University Mainz, Institute of Human Genetics, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33542DOI Listing
August 2010

Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.

Eur J Pediatr 2010 Jul 3;169(7):789-93. Epub 2009 Dec 3.

Labor Lademannbogen, Professor Rüdiger Arndt Haus, Lademannbogen 61-63, 22339, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00431-009-1111-0DOI Listing
July 2010

An autoinhibitory domain confers redox regulation to maize glycerate kinase.

Plant Physiol 2010 Jun 22;153(2):832-40. Epub 2010 Apr 22.

Department of Plant Physiology, University of Rostock, D-18059 Rostock, Germany.

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http://www.plantphysiol.org/cgi/doi/10.1104/pp.110.157719
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http://dx.doi.org/10.1104/pp.110.157719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2879795PMC
June 2010

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Am J Med Genet A 2010 Feb;152A(2):305-12

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33198DOI Listing
February 2010

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

Am J Med Genet A 2010 Jan;152A(1):181-4

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Langenbeckstrasse 1, D-55131 Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33153DOI Listing
January 2010

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

Am J Med Genet A 2009 Oct;149A(10):2236-40

Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32993DOI Listing
October 2009

Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.

Turk J Pediatr 2008 May-Jun;50(3):265-8

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2008

Only plant-type (GLYK) glycerate kinases produce d-glycerate 3-phosphate.

FEBS Lett 2008 Sep 7;582(20):3025-8. Epub 2008 Aug 7.

Department of Plant Physiology, University of Rostock, Albert-Einstein-Strasse 3, D-18059 Rostock, Germany.

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http://doi.wiley.com/10.1016/j.febslet.2008.07.038
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http://dx.doi.org/10.1016/j.febslet.2008.07.038DOI Listing
September 2008

Girl with partial Turner syndrome and absence epilepsy.

Pediatr Neurol 2008 Apr;38(4):289-92

Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.11.008DOI Listing
April 2008

Two novel deletions (array CGH findings) in pigment dispersion syndrome.

Ophthalmic Genet 2007 Dec;28(4):216-9

Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1080/13816810701635269DOI Listing
December 2007

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

Eur J Hum Genet 2007 Aug 14;15(8):837-42. Epub 2007 Feb 14.

Institute for Human Genetics, Johannes Gutenberg-University, Mainz, Germany.

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http://www.nature.com/articles/5201791
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http://dx.doi.org/10.1038/sj.ejhg.5201791DOI Listing
August 2007

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

Healthy 12-year-old boy with mosaic inv dup(15)(q13).

Am J Med Genet A 2006 Mar;140(6):640-3

Institute of Clinical Genetics, Dresden University of Technology, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31118DOI Listing
March 2006

Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.

Eur J Hum Genet 2005 Nov;13(11):1192-204

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

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http://dx.doi.org/10.1038/sj.ejhg.5201473DOI Listing
November 2005

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Eur J Med Genet 2005 Jul-Sep;48(3):328-38

Department of Clinical Genetics, University Medical Center Carl Gustav Carus, Fetscherstr. 74, D-01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.024DOI Listing
November 2005

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Hum Genet 2005 Sep 14;117(5):485-93. Epub 2005 Jul 14.

Institut für Humangenetik, Klinikum, Universität Mainz, 55101, Mainz, Germany.

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http://dx.doi.org/10.1007/s00439-005-1331-yDOI Listing
September 2005

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.

Am J Med Genet A 2005 Sep;137A(3):323-7

Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.30890DOI Listing
September 2005

A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis.

Genes Chromosomes Cancer 2005 Jul;43(3):260-72

Gynäkologische Molekularbiologie, Abteilung Frauenheilkunde, Frauenklinik der Friedrich-Schiller-Universität Jena, Germany.

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http://dx.doi.org/10.1002/gcc.20192DOI Listing
July 2005

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).

Eur J Hum Genet 2005 May;13(5):592-8

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

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http://dx.doi.org/10.1038/sj.ejhg.5201378DOI Listing
May 2005

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.

Am J Med Genet A 2005 May;134(4):434-8

Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.30134DOI Listing
May 2005

Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies.

Turk J Pediatr 2004 Oct-Dec;46(4):384-7

Department of Medical Biology and Genetics, Gazi University Faculty of Medicine, Ankara, Turkey.

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April 2005

Androstadienone odor thresholds in adolescents.

Horm Behav 2005 Mar 16;47(3):306-10. Epub 2005 Jan 16.

Smell and Taste Clinic, Department of Otorhinolaryngology, University of Dresden Medical School, Fetscherstr. 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.yhbeh.2004.10.007DOI Listing
March 2005

Two sisters with Silver-Russell phenotype.

Am J Med Genet A 2004 Dec;131(3):301-6

Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu 51005 , Estonia.

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http://dx.doi.org/10.1002/ajmg.a.30379DOI Listing
December 2004

A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails.

Pediatr Dermatol 2004 Jan-Feb;21(1):44-7

Department of Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children's Hospital, Turkey.

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http://dx.doi.org/10.1111/j.0736-8046.2004.21108.xDOI Listing
June 2004

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.

Pediatr Nephrol 2004 Jun 9;19(6):602-8. Epub 2004 Mar 9.

Department of Pediatrics, University Hospital, Dresden University of Technology, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://link.springer.com/10.1007/s00467-004-1442-z
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http://dx.doi.org/10.1007/s00467-004-1442-zDOI Listing
June 2004

Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations.

Eur J Hum Genet 2004 Jun;12(6):505-8

Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201181DOI Listing
June 2004

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Eur J Hum Genet 2004 May;12(5):400-6

Department of Medical Genetics, University of Antwerp, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201163DOI Listing
May 2004

Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14.

Am J Med Genet A 2004 Feb;124A(4):397-401

Institute of Clinical Genetics, Dresden University of Technology, Fetscherstrasse 74, D-01307 Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20410DOI Listing
February 2004

Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?

Am J Med Genet A 2003 Jul;120A(3):429-33

Institut für Humangenetik, Universitätsklinikum, Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20060DOI Listing
July 2003

Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.

Clin Dysmorphol 2003 Apr;12(2):123-7

University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary.

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http://dx.doi.org/10.1097/01.mcd.0000059768.40218.9bDOI Listing
April 2003

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Am J Med Genet A 2003 Mar;117A(3):236-44

Institute of Human Genetics, Charité, Humboldt University, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.10017
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http://dx.doi.org/10.1002/ajmg.a.10017DOI Listing
March 2003

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.

Am J Med Genet A 2003 Feb;117A(1):1-5

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.10914DOI Listing
February 2003

Two new cases of analphoid marker chromosomes.

Am J Med Genet A 2003 Jan;116A(3):284-9

Institut für Klinische Genetik, Technische Universität, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.10916DOI Listing
January 2003

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.

Am J Med Genet 2002 Nov;113(2):207-12

Institute of Clinical Genetics, Technical University, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.10764DOI Listing
November 2002

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

Am J Med Genet 2002 Apr;108(4):322-6

Medical Genetic Center, Tartu University Clinics, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.10284DOI Listing
April 2002