Eberhard Schwinger


Ontology type: schema:Person     


Person Info

NAME

Eberhard

SURNAME

Schwinger

Publications in SciGraph latest 50 shown

  • 2015-02 Clinical utility gene card for: Angelman Syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-09 Clinical utility gene card for: Prader-Willi Syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-09 Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007 Polkörperdiagnostik für monogene Erkrankungen als deutsche Alternative zur Präimplantationsdiagnostik in DAS DEUTSCHE IVF-REGISTER 1996–2006
  • 2006-08 Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia in JOURNAL OF NEUROLOGY
  • 2006-07 Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration in JOURNAL OF NEURAL TRANSMISSION
  • 2005-12 Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes in BMC MEDICAL GENETICS
  • 2005-12 Spinocerebellar ataxia type 4 in JOURNAL OF NEUROLOGY
  • 2005-06 Corrigendum: Sarcoidosis is associated with a truncating splice site mutation in the gene BTNL2 in NATURE GENETICS
  • 2005-04 Sarcoidosis is associated with a truncating splice site mutation in BTNL2 in NATURE GENETICS
  • 2005-02 Chromosomale Ursachen habitueller Aborte in GYNÄKOLOGISCHE ENDOKRINOLOGIE
  • 2005 Präimplantationsdiagnostik in MOLEKULARMEDIZINISCHE GRUNDLAGEN VON FETALEN UND NEONATALEN ERKRANKUNGEN
  • 2005-01 Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-11 FMR1 premutation as a rare cause of late onset ataxia in JOURNAL OF NEUROLOGY
  • 2004-11 Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-05 Low-Level Gonosomal Mosaicism in Women Undergoing ICSI Cycles in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
  • 2004-05 Aprataxin mutations are a rare cause of early onset ataxia in Germany in JOURNAL OF NEUROLOGY
  • 2003-08 SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-06 Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region in JOURNAL OF NEUROLOGY
  • 2003-02 Phenotypical variability of expanded alleles in the TATA-binding protein gene in JOURNAL OF NEUROLOGY
  • 2002-11 Chromatin preferences of the perichromosomal layer constituent pKi-67 in CHROMOSOME RESEARCH
  • 2002-11 CFTR gene mutations in sarcoidosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-03 Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-09 Die intrauterine Wachstumsrestriktion in DER GYNÄKOLOGE
  • 2001-03 Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-02 Genetik der männlichen Infertilität in DER GYNÄKOLOGE
  • 1998-07 Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor in HUMAN GENETICS
  • 1997-08 CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles in HUMAN GENETICS
  • 1997-03 Genetische Aspekte kongenitaler fetaler Herzerkrankungen in DER GYNÄKOLOGE
  • 1996-07 Analysis of sex and ΔF508 in single amniocytes using primer extension preamplification in HUMAN GENETICS
  • 1996-06 Eye tracking dysfunction in families with multiple cases of schizophrenia in EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
  • 1995-02 Common CFTR mutations are not likely to predispose to chronic bronchitis in Northern Germany in HUMAN GENETICS
  • 1995-01 Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28 in HUMAN GENETICS
  • 1994-08 Corrigendum: Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness in NATURE GENETICS
  • 1994-07 Teratogenic effects in a case of maternal treatment for acute myelocytic leukaemia—neonatal and infantile course in EUROPEAN JOURNAL OF PEDIATRICS
  • 1994-06-01 Teratogenic effects in a case of maternal treatment for acute myelocytic leukaemia ? neonatal and infantile course in EUROPEAN JOURNAL OF PEDIATRICS
  • 1994-05 Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness in NATURE GENETICS
  • 1994-05 Molecular characterization of the androgen receptor gene in boys with hypospadias in EUROPEAN JOURNAL OF PEDIATRICS
  • 1994-02 TERATOGENIC EFFECTS IN A CASE OF MATERNAL TREATMENT FOR ACUTE LYMPHOBLASTIC LEUKEMIA (ALL) in PEDIATRIC RESEARCH
  • 1994-02 D3S1229 and D3S1246 correspond to the same dinucleotide repeat polymorphism in HUMAN GENETICS
  • 1993-12 Der Einfluß der Präimplantationsdiagnostik auf die Geburtsmedizin in ARCHIVES OF GYNECOLOGY AND OBSTETRICS
  • 1993-09 Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene in HUMAN GENETICS
  • 1993-09 Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome in HUMAN GENETICS
  • 1993-07 Polyploidies in abortion material decrease with maternal age in HUMAN GENETICS
  • 1993 Der Einfluß der Präimplantationsdiagnostik auf die Geburtsmedizin in GYNÄKOLOGIE UND GEBURTSHILFE 1992
  • 1993 Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa in RETINAL DEGENERATION
  • 1992-05 Gene diagnosis and carrier detection in hunter syndrome by the iduronate-2-sulphatase cDNA probe in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-12 123 MOLECULAR GENETIC ANALYSIS IN HUNTER DISEASE in PEDIATRIC RESEARCH
  • 1991-06 A third allele of the PstI RFLP at DXS94 in HUMAN GENETICS
  • 1989-07 Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions? in HUMAN GENETICS
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