M Stuhrmann

Summary

Affiliation: Hannover Medical School
Country: Germany

Publications

  1. ncbi Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23
    M Stuhrmann
    Institute of Human Genetics, Hannover Medical School, Germany
    Clin Genet 73:566-72. 2008
  2. ncbi Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family
    M Stuhrmann
    Institute of Human Genetics, Medical School Hannover, Carl Neuberg Strasse 1, 30625 Hannover, Germany
    Br J Haematol 112:616-20. 2001
  3. ncbi The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D
    M Ahmed
    Department of Pathology, King Fahad Hospital of the University, King Faisal University, Al-Khobar, Saudi Arabia
    Ann Hematol 80:629-33. 2001
  4. ncbi [Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology]
    B Tummler
    Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover
    Internist (Berl) 44:S7-15. 2003
  5. ncbi Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis
    N Derichs
    Clin Genet 67:529-31. 2005
  6. ncbi Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family
    I A Bukhari
    J Eur Acad Dermatol Venereol 20:628-9. 2006

Collaborators

  • I A Bukhari
  • N Derichs
  • B Tummler
  • M Ahmed
  • E A El-Harith
  • I Grund
  • A Schuster
  • P Kozlowski
  • S Gallati
  • M Ballmann
  • A Ernsting
  • C Stolpe
  • E H El-Harith
  • L Bashawri

Detail Information

Publications7

  1. ncbi Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23
    M Stuhrmann
    Institute of Human Genetics, Hannover Medical School, Germany
    Clin Genet 73:566-72. 2008
    ..4, spanning a distance of 18.9 cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders...
  2. ncbi Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family
    M Stuhrmann
    Institute of Human Genetics, Medical School Hannover, Carl Neuberg Strasse 1, 30625 Hannover, Germany
    Br J Haematol 112:616-20. 2001
    ..We postulate the existence of a new locus for FT whereby the disease is transmitted as a recessive, possibly X-linked trait...
  3. ncbi The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D
    M Ahmed
    Department of Pathology, King Fahad Hospital of the University, King Faisal University, Al-Khobar, Saudi Arabia
    Ann Hematol 80:629-33. 2001
    ....
  4. ncbi [Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology]
    B Tummler
    Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover
    Internist (Berl) 44:S7-15. 2003
    ....
  5. ncbi Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis
    N Derichs
    Clin Genet 67:529-31. 2005
  6. ncbi Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family
    I A Bukhari
    J Eur Acad Dermatol Venereol 20:628-9. 2006