A Bohring

Summary

Publications

  1. ncbi request reprint OEIS complex, VATER, and the ongoing difficulties in terminology and delineation
    Axel Bohring
    Am J Med Genet 107:72-6. 2002
  2. ncbi request reprint New cases of Bohring-Opitz syndrome, update, and critical review of the literature
    Axel Bohring
    Institut fur Humangenetik, Westfalische Wilhelms Universitat, Munster, Germany
    Am J Med Genet A 140:1257-63. 2006
  3. ncbi request reprint Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
    A Bohring
    Department of Pediatrics, Ostholstein Kliniken, Eutin, Germany
    Am J Med Genet 85:438-46. 1999
  4. ncbi request reprint Polytopic anomalies with agenesis of the lower vertebral column
    A Bohring
    Department of Pediatrics, Ostholstein Kliniken, Eutin, Germany
    Am J Med Genet 87:99-114. 1999
  5. pmc WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes
    Axel Bohring
    Institut fur Humangenetik, Westfalische Wilhelms Universitat, 48149 Munster, Germany
    Am J Hum Genet 85:97-105. 2009
  6. pmc Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome
    Tadashi Kaname
    Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan
    Am J Hum Genet 81:835-41. 2007
  7. ncbi request reprint Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
    Valeska Frank
    Department of Human Genetics, RWTH Aachen University, Aachen, Germany
    Hum Mutat 28:638-9. 2007
  8. ncbi request reprint Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
    Ute Hehr
    Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz Josef Strauss Allee 11, Regensburg 93053, Germany
    Neurogenetics 8:279-88. 2007

Collaborators

Detail Information

Publications8

  1. ncbi request reprint OEIS complex, VATER, and the ongoing difficulties in terminology and delineation
    Axel Bohring
    Am J Med Genet 107:72-6. 2002
  2. ncbi request reprint New cases of Bohring-Opitz syndrome, update, and critical review of the literature
    Axel Bohring
    Institut fur Humangenetik, Westfalische Wilhelms Universitat, Munster, Germany
    Am J Med Genet A 140:1257-63. 2006
    ..We also update the clinical outcome of the patients reported in the original article by Bohring et al. [Am J Med Genet 85:438-446] and critically review the subsequently published cases considered to have Bohring-Opitz syndrome...
  3. ncbi request reprint Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
    A Bohring
    Department of Pediatrics, Ostholstein Kliniken, Eutin, Germany
    Am J Med Genet 85:438-46. 1999
    ..Although there is overlap, a clinical distinction from the Opitz trigonocephaly and other syndromes seems possible, and thus a specific causal entity may be postulated...
  4. ncbi request reprint Polytopic anomalies with agenesis of the lower vertebral column
    A Bohring
    Department of Pediatrics, Ostholstein Kliniken, Eutin, Germany
    Am J Med Genet 87:99-114. 1999
    ..This concept appears applicable in our cases and makes such terms such as "caudal regression syndrome" or "axial mesodermal dysplasia spectrum" redundant...
  5. pmc WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes
    Axel Bohring
    Institut fur Humangenetik, Westfalische Wilhelms Universitat, 48149 Munster, Germany
    Am J Hum Genet 85:97-105. 2009
    ....
  6. pmc Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome
    Tadashi Kaname
    Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan
    Am J Hum Genet 81:835-41. 2007
    ..Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth...
  7. ncbi request reprint Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
    Valeska Frank
    Department of Human Genetics, RWTH Aachen University, Aachen, Germany
    Hum Mutat 28:638-9. 2007
    ..Overall, our data have immediate implications for genetic counselling and testing approaches in MKS...
  8. ncbi request reprint Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
    Ute Hehr
    Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz Josef Strauss Allee 11, Regensburg 93053, Germany
    Neurogenetics 8:279-88. 2007
    ..This supports the notion that additional environmental and/or genetic factors may contribute to the observed broad spectrum of POMGnT1-associated phenotypes...