L M Neumann
Affiliation: Humboldt University
- Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin geneLuitgard M Graul-Neumann
Institute of Human Genetics, Charite, Campus Virchow Klinikum, Berlin, Germany
Am J Med Genet A 146:977-83. 2008..Analysis of ELN expression in fibroblasts provided evidence for a dominant-negative effect in the child, while due to an unknown mechanism, the father showed haploinsufficiency which might explain the significant clinical variability...
- Unexpected death of a 12 year old boy with monosomy 1p36L M Neumann
Institute of Human Genetics, Charite Campus Virchow Klinikum, 13353 Berlin, Germany
Genet Couns 15:19-26. 2004..To our knowledge there has been no previous report of episodes of transient unilateral muscle weakness and atonic hemiparesis, circulatory shock and sudden death associated with monosomy 1p36...
- Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasiaLuitgard M Neumann
Institute of Human Genetics, Charite University Medicine Berlin, Berlin, Germany
Am J Med Genet A 140:421-6. 2006..No mutation was identified in the SMC family, possibly suggesting genetic heterogeneity of this disorder...
- Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton typeLuitgard Neumann
Institute of Human Genetics and Children s Hospital, Charite Campus, Humboldt University, Augustenburger Platz 1, 13353, Berlin, Germany
Pediatr Radiol 33:786-90. 2003..In contrast to TD1/2 and PLD-SD, the Torrance-Luton type platyspondylic dysplasia is compatible with survival to adulthood...
- Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutationLuitgard M Neumann
Institute of Human Genetics, Charite Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Pediatr 162:710-3. 2003..Mutation analysis of the phosphomannomutase 2 gene (PMM2) revealed homozygosity for a 647A>T (N216I) mutation in our patient and heterozygosity in his consanguineous parents...
- Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypesSeval Turkmen
Institut fur Medizinische Genetik, Humboldt Universitat, Charite, Berlin, Germany
Eur J Hum Genet 11:858-65. 2003..The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1. Deletions covering the NSD1 locus were not found in the patients analyzed here...
- Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndromeMartin Zenker
Institute of Human Genetics, University of Erlangen, 91054 Erlangen, Germany
Am J Med Genet A 130:138-45. 2004..We propose that this syndrome should be designated microcoria-congenital nephrosis syndrome or Pierson syndrome. Possible overlap with Galloway-Mowat syndrome and relations to other oculo-renal syndromes are discussed...
- Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13H Tonnies
Institute of Human Genetics, Charite, Universitatsmedizin Berlin, Berlin, Germany
Cytogenet Genome Res 114:325-9. 2006..BAC-FISH confirmed the cytogenetic localization of the neocentromere in band 13q31.3. Thus the patient had a mosaic conventional karyotype mos 47,XX,+inv dup(13)(qter-->q21.3::q21.3-->q31.3-->neo-->q31.3-->qter)/46,XX ...
- Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 geneEva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Hum Genet 14:1274-9. 2006..We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes...
- Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhoodJan M Langrehr
Department for General, Visceral and Transplantation Surgery, Charite, Campus Virchow Clinic, 13353 Berlin, Germany
J Pediatr Surg 42:1291-4. 2007..This is the first report on the combination of a neuroendocrine pancreatic tumor with adrenal pheochromocytoma in a pediatric patient with von Hippel-Lindau (VHL) disease...
- Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive conditionHeidemarie Neitzel
Institute of Human Genetics, Charite, Campus Virchow, Humboldt University Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Hum Genet 70:1015-22. 2002..The rates of sister chromatid exchanges and the mitotic nondisjunction rates were inconspicuous. Premature entry of cells into mitosis suggests that a gene involved in cell-cycle regulation is mutated in these siblings...
- Hay-Wells syndrome in a child with mutation in the TP73L geneNatalie Garcia Bartels
Department of Dermatology and Allergy, Charite Universitatsmedizin Berlin, Germany
J Dtsch Dermatol Ges 5:919-23. 2007....
- Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesMartin Zenker
Institute of Human Genetics, Schwabachanlage 10, 91054 Erlangen, Germany
Hum Mol Genet 13:2625-32. 2004..In addition, components of the molecular interface between GBM and podocyte foot processes come in the focus as potential candidates for isolated and syndromic CNS...
- Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literatureHolger Tonnies
Institute of Human Genetics, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
Am J Med Genet A 121:163-7. 2003....
- Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)Luitgard M Neumann
Institute of Human Genetics, Charite, Campus Virchow Klinikum, Augustenburger Platz 1, Humboldt University, 13353 Berlin
Pediatr Radiol 33:637-40. 2003..We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual...
- Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locusS M Sauter
Institute of Human Genetics, University of Gottingen, Germany
Hum Mutat 23:98. 2004..481G>C (p.A161P) and c.740A>C (p.H247P). One of the novel mutations was found both in a family with early onset of symptoms and in a late onset family. Furthermore, we report on numerous polymorphisms detected in the SPG3A gene...
- A complex phenotype with cystic renal diseaseD Muller
Department of Pediatric Nephrology, Charite Campus Virchow, Berlin, Germany
Kidney Int 70:1656-60. 2006
- Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysisPeter N Robinson
Institut fur Medizinische Genetik, Universitatsklinikum Charite, Berlin, Germany
Am J Med Genet A 135:251-62. 2005..Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed...
- Mutations in microcephalin cause aberrant regulation of chromosome condensationMarc Trimborn
Institute of Human Genetics, Charité Universitary Medicine Berlin, Campus Virchow, Humboldt University, Berlin, Germany
Am J Hum Genet 75:261-6. 2004..Further characterization of MCPH1 is thus likely to lead to fundamental insights into both the regulation of chromosome condensation and neurodevelopment...
- Prenatal diagnosis of Alagille syndromeH Witt
Department of Paediatrics, Humboldt Universitat, Berlin, Germany
J Pediatr Gastroenterol Nutr 38:105-6. 2004
- Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
Hum Genet 121:501-9. 2007....
- Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeEva Klopocki
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Hum Genet 80:232-40. 2007..We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR)...
- MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory findingAnke Reinhold
Clinic for Pediatric Neurology, Institute for Human Genetics, Charite Campus Virchow, Berlin, Germany
AJNR Am J Neuroradiol 24:825-8. 2003..Cerebellar atrophy is considered the most prominent neuroradiologic finding in Marinesco-Sjögren syndrome (MSS). Our purpose was to investigate this neuroradiologic feature in a series of patients with MSS...
- Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNASylvia Bahring
Medical Faculty of the Charite, Experimental and Clinical Research Center, Max Delbruck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Berlin, Germany
Hypertension 51:426-31. 2008..We are pursuing the possibility of microRNA expression in affected patients that leads to complete down regulation of a spliced transcript...
- TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathiesStefanie Katzke
Institute of Medical Genetics, Charite University Hospital, Berlin, Germany
Hum Mutat 20:197-208. 2002....
- Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girlIrene Brunk
Department of Neuropaediatrics, Charite, Berlin, Germany
Eur J Pediatr 163:214-7. 2004..Findings on the spinal MRI scan were interpreted as spinal meningeal cysts. Over a period of 2 years, the patient developed no neurological deficits and no radiological signs of progression of the spinal lesions...
- Novel autosomal recessive progressive hyperpigmentation syndromeUlrike Huffmeier
Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Germany
Am J Med Genet A 135:195-9. 2005..Extensive review of the literature showed no previous report with this distinct combination of clinical and microscopic findings...
- Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch
Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Science 319:816-9. 2008..Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ)...
- Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Eur J Med Genet 48:97-111. 2005..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
- Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier
Institute of Human Genetics, Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 80:994-1001. 2007....
- Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptomsSven Armbrust
Department of Neonatology and Pediatric Intensive Care, University Children s Hospital, Greifswald, Germany
Arch Dermatol 141:611-3. 2005..The typical pathologic findings are striking: microstomia, micrognathia, thin but very tight translucent skin that tears spontaneously, and arthrogryposis multiplex. The mechanisms behind this disease are unknown...
- Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndromeOliver Bartsch
Institute for Human Genetics, Mainz University School of Medicine, 55101, Mainz, Germany
Hum Genet 120:179-86. 2006..Further studies are needed to delineate the clinical spectrum of the new disorder and to clarify the role of DNASE1...
- An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meningesHeather N Yeowell
Div of Dermatology, Duke Univ Medical Centre, Durham, NC, USA
Eur J Dermatol 15:353-8. 2005..Using the data from this study and other recent reports, we have updated the allele frequency for this mutation, based on 19 duplicated alleles out of a total of 104 genetically independent alleles from 53 EDS VIA families, to be 18.3%...
- Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber
Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
Eur J Hum Genet 12:879-90. 2004..The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described...