Marie France Portnoi

Summary

Country: France

Publications

  1. pmc 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
  2. doi request reprint 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
  3. doi request reprint 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
  4. doi request reprint 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
  5. doi request reprint Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers
    Alexandre Rouen
    Medical Genetics and Embryology Department, AP HP, Armand Trousseau Hospital, 28 avenue du Dr Arnold Netter, Paris, France
    Hum Reprod 28:2003-9. 2013
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. doi request reprint Discovery of a large deletion of KAL1 in 2 deaf brothers
    Sandrine Marlin
    Centre de Référence des Surdités Génétiques, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Service de Génétique médicale, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris INSERM UMRS1120 Département de génétique et d embryologie médicales, Inserm U933, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris Département de génétique clinique, CHU de Nantes Service d ORL pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Laboratoire de Génétique moléculaire, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Institut de la Vision UPMC, Universite Pierre et Marie Curie, Paris 6 and Laboratoire de biochimie et biologie moléculaire, Hopital Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    Otol Neurotol 34:1590-4. 2013
  9. doi request reprint 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

Publications9

  1. pmc 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...
  2. doi request reprint 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
    ....
  3. doi request reprint 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...
  4. doi request reprint 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...
  5. doi request reprint Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers
    Alexandre Rouen
    Medical Genetics and Embryology Department, AP HP, Armand Trousseau Hospital, 28 avenue du Dr Arnold Netter, Paris, France
    Hum Reprod 28:2003-9. 2013
    ..Can the proportion of unbalanced spermatozoa in chromosomal rearrangement carriers be decreased through the use of discontinuous gradient centrifugation (DGC)?..
  6. ncbi request reprint 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...
  7. ncbi request reprint 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)...
  8. doi request reprint Discovery of a large deletion of KAL1 in 2 deaf brothers
    Sandrine Marlin
    Centre de Référence des Surdités Génétiques, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Service de Génétique médicale, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris INSERM UMRS1120 Département de génétique et d embryologie médicales, Inserm U933, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris Département de génétique clinique, CHU de Nantes Service d ORL pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Laboratoire de Génétique moléculaire, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Institut de la Vision UPMC, Universite Pierre et Marie Curie, Paris 6 and Laboratoire de biochimie et biologie moléculaire, Hopital Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    Otol Neurotol 34:1590-4. 2013
    ..Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family...
  9. doi request reprint 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...