Marie France Portnoi

Summary

Country: France

Publications

  1. ncbi Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling
    Marie France Portnoi
    Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, France
    Eur J Med Genet 55:635-40. 2012
  2. ncbi Microduplication 22q11.2: a new chromosomal syndrome
    Marie France Portnoi
    Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, 26 rue du Dr Arnold Netter, AP HP, 75012 Paris, France
    Eur J Med Genet 52:88-93. 2009
  3. ncbi A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation
    Capucine Hyon
    Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, Paris, France
    Eur J Med Genet 54:287-91. 2011
  4. ncbi Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients
    Marie France Portnoi
    Cytogenetics Laboratory, AP HP, Saint Antoine s Hospital, Pierre and Marie Curie University, Paris, France
    Clin Dysmorphol 16:247-52. 2007
  5. ncbi Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism
    Jonathan Levy
    Service de génétique et d embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, 75012 Paris, France
    Case Rep Genet 2013:592702. 2013
  6. ncbi Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter
    Nicolas Gruchy
    Laboratoire de Cytogenetique, AP HP, Hopital Saint Antoine, Universite Pierre et Marie Curie, Paris, France
    Am J Med Genet A 143:2417-22. 2007
  7. ncbi Myoclonus-dystonia due to maternal uniparental disomy
    Emilie Guettard
    Service de Neurologie, Hopital Saint Antoine, AP HP, Paris, France
    Arch Neurol 65:1380-5. 2008

Collaborators

Detail Information

Publications7

  1. ncbi Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling
    Marie France Portnoi
    Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, France
    Eur J Med Genet 55:635-40. 2012
    ....
  2. ncbi Microduplication 22q11.2: a new chromosomal syndrome
    Marie France Portnoi
    Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, 26 rue du Dr Arnold Netter, AP HP, 75012 Paris, France
    Eur J Med Genet 52:88-93. 2009
    ..2 disorder...
  3. ncbi A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation
    Capucine Hyon
    Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, Paris, France
    Eur J Med Genet 54:287-91. 2011
    ..3 microduplication syndrome...
  4. ncbi Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients
    Marie France Portnoi
    Cytogenetics Laboratory, AP HP, Saint Antoine s Hospital, Pierre and Marie Curie University, Paris, France
    Clin Dysmorphol 16:247-52. 2007
    ..22. The boy and his mother had a smaller deletion (8 Mb), with a breakpoint in 18p11.23. These findings suggest that the distal region on 18p is involved in the main clinical features, and GH deficiency, in 18p deletions...
  5. ncbi Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism
    Jonathan Levy
    Service de génétique et d embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, 75012 Paris, France
    Case Rep Genet 2013:592702. 2013
    ..A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy...
  6. ncbi Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter
    Nicolas Gruchy
    Laboratoire de Cytogenetique, AP HP, Hopital Saint Antoine, Universite Pierre et Marie Curie, Paris, France
    Am J Med Genet A 143:2417-22. 2007
    ..The phenotypic effects of the terminal deletion of 2p in addition to the trisomy are discussed. This is the third patient presenting with a severe clinical phenotype and a de novo inv dup del (2p)...
  7. ncbi Myoclonus-dystonia due to maternal uniparental disomy
    Emilie Guettard
    Service de Neurologie, Hopital Saint Antoine, AP HP, Paris, France
    Arch Neurol 65:1380-5. 2008
    ..Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7...