Luitgard Neumann

Luitgard Neumann

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Luitgard Neumann

Luitgard Neumann

Publications by authors named "Luitgard Neumann"

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Hay-Wells syndrome in a child with mutation in the TP73L gene.

J Dtsch Dermatol Ges 2007 Oct;5(10):919-23

Department of Dermatology and Allergy, Charité- Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1111/j.1610-0387.2007.06379.xDOI Listing
October 2007

Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood.

J Pediatr Surg 2007 Jul;42(7):1291-4

Department for General, Visceral and Transplantation Surgery, Charité, Campus Virchow Clinic, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.jpedsurg.2007.02.029DOI Listing
July 2007

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Eur J Hum Genet 2006 Dec 9;14(12):1274-9. Epub 2006 Aug 9.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201696DOI 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

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.

Eur J Dermatol 2005 Sep-Oct;15(5):353-8

Div of Dermatology, Duke Univ Medical Centre, Durham, NC, USA.

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January 2006

Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms.

Arch Dermatol 2005 May;141(5):611-3

Department of Neonatology and Pediatric Intensive Care, University Children's Hospital, Greifswald, Germany.

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http://dx.doi.org/10.1001/archderm.141.5.611DOI Listing
May 2005

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Am J Hum Genet 2004 Aug 15;75(2):261-6. Epub 2004 Jun 15.

Institute of Human Genetics, Charité Universitary Medicine Berlin, Campus Virchow, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1086/422855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1216060PMC
August 2004

Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl.

Eur J Pediatr 2004 Apr 11;163(4-5):214-7. Epub 2004 Feb 11.

Department of Neuropaediatrics, Charité, Berlin, Germany.

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http://dx.doi.org/10.1007/s00431-004-1407-zDOI Listing
April 2004

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.

Pediatr Radiol 2003 Nov 5;33(11):786-90. Epub 2003 Sep 5.

Institute of Human Genetics and Children's Hospital, Charité Campus, Humboldt University, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s00247-003-1055-xDOI Listing
November 2003

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Eur J Pediatr 2003 Oct 2;162(10):710-3. Epub 2003 Aug 2.

Institute of Human Genetics, Charité Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1007/s00431-003-1278-8DOI Listing
October 2003

Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims).

Pediatr Radiol 2003 Sep 12;33(9):637-40. Epub 2003 Jun 12.

Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, Humboldt University, 13353 Berlin,

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http://link.springer.com/10.1007/s00247-003-0944-3
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http://dx.doi.org/10.1007/s00247-003-0944-3DOI Listing
September 2003

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.

Am J Med Genet A 2003 Aug;121A(2):163-7

Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20225DOI Listing
August 2003

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

AJNR Am J Neuroradiol 2003 May;24(5):825-8

Clinic for Pediatric Neurology, Institute for Human Genetics, Charité Campus Virchow, Berlin, Germany.

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http://www.ajnr.org/content/24/5/825.full.pdf
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May 2003

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Hum Mutat 2002 Sep;20(3):153-61

Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany.

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http://dx.doi.org/10.1002/humu.10113DOI Listing
September 2002

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Am J Hum Genet 2002 Apr 20;70(4):1015-22. Epub 2002 Feb 20.

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

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http://dx.doi.org/10.1086/339518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379095PMC
April 2002

Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature.

J Neurosurg 2002 Jan;96(1 Suppl):112-7

Unfall- und Wiederherstellungschirurgie, and Institut für Humangenetik, Universitätsklinikum Charité der Humboldt Universität Berlin, Germany.

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http://dx.doi.org/10.3171/spi.2002.96.1.0112DOI Listing
January 2002