Marie France Portnoi

Summary

Country: France

Publications

  1. ncbi request reprint 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes
    Marie France Portnoi
    Laboratoire de Cytogenetique, Hopital Saint Antoine AP HP, Paris, France
    Am J Med Genet A 137:47-51. 2005
  2. 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
  3. 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
  4. 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
  5. ncbi request reprint Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report
    Francois Vialard
    Laboratoire de Cytogenetique, CHU de Rouen, Rouen, France
    Am J Med Genet A 118:229-34. 2003
  6. 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
  7. doi request reprint Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion
    Isabelle Rouillon
    Service d Otorhinolaryngologie et de Chirurgie Cervico Faciale, Hopital d Enfants Armand Trousseau, APHP and UPMC Univ Paris 6, 26 Avenue Arnold Netter, 75571 Paris Cedex 12, France
    Arch Otolaryngol Head Neck Surg 135:652-6. 2009
  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. ncbi request reprint Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature
    Francois Vialard
    Laboratoire de Cytogenetique, Hopital Saint Antoine, Paris, France
    Fertil Steril 86:1001.e1-5. 2006
  10. ncbi request reprint Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency
    Frederic Lirussi
    Service de Biochime et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Am J Med Genet A 143:2796-803. 2007

Collaborators

Detail Information

Publications12

  1. ncbi request reprint 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes
    Marie France Portnoi
    Laboratoire de Cytogenetique, Hopital Saint Antoine AP HP, Paris, France
    Am J Med Genet A 137:47-51. 2005
    ..These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders...
  2. 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...
  3. 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...
  4. 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)...
  5. ncbi request reprint Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report
    Francois Vialard
    Laboratoire de Cytogenetique, CHU de Rouen, Rouen, France
    Am J Med Genet A 118:229-34. 2003
    ..We present several arguments for the mechanism involving two U-type exchanges occurring simultaneously at the pachytene stage of meiosis...
  6. 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)?..
  7. doi request reprint Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion
    Isabelle Rouillon
    Service d Otorhinolaryngologie et de Chirurgie Cervico Faciale, Hopital d Enfants Armand Trousseau, APHP and UPMC Univ Paris 6, 26 Avenue Arnold Netter, 75571 Paris Cedex 12, France
    Arch Otolaryngol Head Neck Surg 135:652-6. 2009
    ..To evaluate the results of velopharyngoplasty for velopharyngeal insufficiency (VPI) in relation to 22q11 deletion or nonsyndromic VPI...
  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. ncbi request reprint Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature
    Francois Vialard
    Laboratoire de Cytogenetique, Hopital Saint Antoine, Paris, France
    Fertil Steril 86:1001.e1-5. 2006
    ..To analyze unusual translocations involving a chromosome 1 whole arm and an acrocentric G chromosome p arm found in two men with azoospermia...
  10. ncbi request reprint Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency
    Frederic Lirussi
    Service de Biochime et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Am J Med Genet A 143:2796-803. 2007
    ..5. Because this minimal region of haplo-insufficiency falls into a common region of deletion in 18q- syndrome, we inferred that this macroglossia condition would follow a recessive pattern of inheritance...
  11. 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...
  12. doi request reprint Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays
    Marie Paule Beaujard
    Laboratoire de Cytogenetique, Institut de Puericulture, Paris, France
    Eur J Med Genet 52:321-7. 2009
    ..2. We conclude that FISH with the TBX1 probe is an accurate diagnostic tool for 22q11.2 DS, with a higher sensitivity than FISH using standard probes, detecting all but the rarest deletions, greatly reducing the false negative rate...