Irina Giurgea

Summary

Country: France

Publications

  1. doi request reprint TCF4 deletions in Pitt-Hopkins Syndrome
    Irina Giurgea
    INSERM U841, IMRB, Département de génétique, Equipe 11, Creteil, F 94000, France
    Hum Mutat 29:E242-51. 2008
  2. doi request reprint A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
    Catherine Costa
    APHP, Groupe Hospitalier Henri Mondor, Service de Biochimie Génétique, Creteil, F 94010, France
    J Cyst Fibros 10:479-82. 2011
  3. doi request reprint Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy
    Alix de Becdelievre
    Service de Biochimie Génétique, APHP, Groupe Hospitalier Henri Mondor Albert Chenevier, UF de Génétique, Creteil, 94010, France
    Hum Genet 129:387-96. 2011

Collaborators

Detail Information

Publications3

  1. doi request reprint TCF4 deletions in Pitt-Hopkins Syndrome
    Irina Giurgea
    INSERM U841, IMRB, Département de génétique, Equipe 11, Creteil, F 94000, France
    Hum Mutat 29:E242-51. 2008
    ..In this report, we also further specify the phenotypic spectrum of PHS, enlarged to behavior, with aim to increase the rate and specificity of PHS diagnosis...
  2. doi request reprint A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
    Catherine Costa
    APHP, Groupe Hospitalier Henri Mondor, Service de Biochimie Génétique, Creteil, F 94010, France
    J Cyst Fibros 10:479-82. 2011
    ..870-1113_1110delGAAT, in one patient of our series with mild CF symptoms and in three CF patients of an Italian study, led us to evaluate the mutation frequency and phenotype/genotype correlations...
  3. doi request reprint Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy
    Alix de Becdelievre
    Service de Biochimie Génétique, APHP, Groupe Hospitalier Henri Mondor Albert Chenevier, UF de Génétique, Creteil, 94010, France
    Hum Genet 129:387-96. 2011
    ....