H Omran

Summary

Affiliation: University of Freiburg
Country: Germany

Publications

  1. ncbi Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene
    H Omran
    University Children s Hospital Freiburg, Freiburg University Hospital for Ear, Nose and Throat, Freiburg, Germany
    Am J Respir Cell Mol Biol 23:696-702. 2000
  2. ncbi Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice
    H Omran
    University Children s Hospital, Freiburg University, Freiburg, Germany
    J Am Soc Nephrol 12:107-13. 2001
  3. ncbi Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
    F Hildebrandt
    University Children s Hospital, Freiburg University, Freiburg, Germany
    Kidney Int 59:434-45. 2001
  4. ncbi Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
    U Tacke
    Department of Paediatric Neurology and Muscle Disease, University Children's Hospital, Freiburg, Germany
    Neuropediatrics 36:252-5. 2005
  5. ncbi Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree
    H Omran
    University Children s Hospital, 79106 Freiburg, Germany
    Am J Hum Genet 66:118-27. 2000
  6. ncbi Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease
    J Horvath
    Department of Pediatric Neurology and Muscle Disease, University Children s Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
    Neuropediatrics 34:270-3. 2003
  7. ncbi Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3
    A Volz
    Department of Pediatrics and Adolescent Medicine, Freiburg, Germany
    Cytogenet Genome Res 97:163-6. 2002
  8. ncbi Congenital myopathy with arrest of myogenesis prior to formation of myotubes
    U-P Ketelsen
    Department of Neuropediatrics and Muscle Disorders, Neuromuscular Pathology, Albert-Ludwigs-University, Freiburg, Germany
    Neuropediatrics 36:246-51. 2005
  9. ncbi L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene
    J O Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106, Freiburg, Germany
    J Inherit Metab Dis 31:S275-9. 2008
  10. ncbi Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
    R Birkenhäger
    University Children s Hospital, Freiburg University, D 79106 Freiburg, Germany
    Nat Genet 29:310-4. 2001

Collaborators

Detail Information

Publications17

  1. ncbi Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene
    H Omran
    University Children s Hospital Freiburg, Freiburg University Hospital for Ear, Nose and Throat, Freiburg, Germany
    Am J Respir Cell Mol Biol 23:696-702. 2000
    ..On the basis of the Chlamydomonas model for PCD, this gene represents an excellent candidate for PCD...
  2. ncbi Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice
    H Omran
    University Children s Hospital, Freiburg University, Freiburg, Germany
    J Am Soc Nephrol 12:107-13. 2001
    ....
  3. ncbi Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
    F Hildebrandt
    University Children s Hospital, Freiburg University, Freiburg, Germany
    Kidney Int 59:434-45. 2001
    ..Molecular genetic testing offers the only method for definite diagnosis of NPH1 and avoids invasive diagnostic measures like renal biopsy...
  4. ncbi Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
    U Tacke
    Department of Paediatric Neurology and Muscle Disease, University Children's Hospital, Freiburg, Germany
    Neuropediatrics 36:252-5. 2005
    ..In the third individual, two homozygous sequence variants were identified, which comprise the known G274R mutation and a novel K213E variant...
  5. ncbi Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree
    H Omran
    University Children s Hospital, 79106 Freiburg, Germany
    Am J Hum Genet 66:118-27. 2000
    ..These findings will have implications for diagnosis and genetic counseling in hereditary chronic renal failure and provide the basis for identification of the responsible gene...
  6. ncbi Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease
    J Horvath
    Department of Pediatric Neurology and Muscle Disease, University Children s Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
    Neuropediatrics 34:270-3. 2003
    ..Demonstration of the LAMP2 mutation in affected male and female siblings is compatible with X-linked dominant inheritance. Danon disease should be actively looked for in cardiomyopathy patients...
  7. ncbi Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3
    A Volz
    Department of Pediatrics and Adolescent Medicine, Freiburg, Germany
    Cytogenet Genome Res 97:163-6. 2002
    ..No mutation in KIAA0678 was detected. We conclude, KIAA0678 most likely is not responsible for NPH and SLS in the patients studied...
  8. ncbi Congenital myopathy with arrest of myogenesis prior to formation of myotubes
    U-P Ketelsen
    Department of Neuropediatrics and Muscle Disorders, Neuromuscular Pathology, Albert-Ludwigs-University, Freiburg, Germany
    Neuropediatrics 36:246-51. 2005
    ..These myopathological findings were absent in cardiac muscle, indicating that the defect exclusively affects skeletal muscle formation...
  9. ncbi L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene
    J O Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106, Freiburg, Germany
    J Inherit Metab Dis 31:S275-9. 2008
    ..None of the mutations was found in the control population, indicating that they are most probably causative. Mutation analysis may improve the quality of diagnosis and prenatal diagnosis of L-2-HGA...
  10. ncbi Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
    R Birkenhäger
    University Children s Hospital, Freiburg University, D 79106 Freiburg, Germany
    Nat Genet 29:310-4. 2001
    ..The gene encodes a hitherto unknown protein with two putative transmembrane alpha-helices and thus might function as a regulator for ion-transport proteins involved in aBS, or else as a new transporter or channel itself...
  11. ncbi Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma
    W G Janzarik
    Department of Neurology, University Hospital Freiburg, Freiburg, Germany
    Neuropediatrics 38:61-3. 2007
    ..These data suggest that Ras is rarely mutated in these tumors. Analyzed astrocytomas without mutations in Ras or neurofibromin may harbor mutations in other proteins of this pathway leading to hyperactive Ras signaling...
  12. ncbi Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
    D J Morris-Rosendahl
    Institute for Human Genetics and Anthropology, Albert Ludwigs University of Freiburg, Freiburg, Germany
    Clin Genet 74:425-33. 2008
    ....
  13. ncbi Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia
    J Neesen
    Institute of Human Genetics, University of Gottingen, Germany
    Cytogenet Genome Res 98:38-44. 2002
    ..However, this exchange was also detected in one control DNA. Our results indicate that mutations in the TCTE3 gene are not a main cause of primary ciliary dyskinesia...
  14. ncbi Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations
    A Kispert
    Thorax 58:552-4. 2003
  15. ncbi Neurological findings in aminoacylase 1 deficiency
    J O Sass
    Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Germany
    Neurology 68:2151-3. 2007
  16. ncbi Evidence for further genetic heterogeneity in nephronophthisis
    H Omran
    University Children's Hospital Freiburg, Germany
    Nephrol Dial Transplant 16:755-8. 2001
    ..The finding of further genetic heterogeneity in NPH has important implications for genetic counselling...
  17. ncbi Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Technology Aachen, Germany
    Neurology 60:983-7. 2003
    ..Other organ malformations or peripheral nerve involvement have been regarded as exclusion criteria for infantile SMA. Whether SMN protein deficiency can also lead to loss of sensory neurons has not been systematically addressed...