M Tartaglia

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. ncbi A competitive PCR-based method to measure human fibroblast growth factor receptor 1-4 (FGFR1-4) gene expression
    M Tartaglia
    Laboratorio di Metabolisma e Biochimica Patologica, Istituto Superiore di Sanita, Rome, Italy
    DNA Cell Biol 20:367-79. 2001
  2. ncbi Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
    M Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Genet 29:465-8. 2001
  3. ncbi Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
    M Tartaglia
    Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Rome, Italy
    Hum Genet 101:47-50. 1997
  4. ncbi Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis
    M Tartaglia
    Reparto di Genetica Molecolare, Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Viale Regina Elena, 299, I 00161 Rome, Italy
    Childs Nerv Syst 15:389-93; discussion 393-4. 1999
  5. ncbi Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes
    M Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Clin Genet 63:423-6. 2003
  6. doi Prenatal features of Noonan syndrome: prevalence and prognostic value
    G Baldassarre
    Department of Pediatrics, University of Torino, Torino, Italy
    Prenat Diagn 31:949-54. 2011
  7. doi Visual function in Noonan and LEOPARD syndrome
    P Alfieri
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Neuropediatrics 39:335-40. 2008
  8. ncbi Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
    M Tartaglia
    Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Rome, Italy
    Hum Genet 99:602-6. 1997
  9. pmc Noonan syndrome: clinical aspects and molecular pathogenesis
    M Tartaglia
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Mol Syndromol 1:2-26. 2010
  10. pmc Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome
    J S Lee
    J Med Genet 42:e11. 2005

Collaborators

  • B D Gelb
  • E Mercuri
  • E L Mehler
  • M Silengo
  • D Ricci
  • G Baldassarre
  • P Alfieri
  • M M Serrano-Martín
  • J S Lee
  • B F Goemans
  • E Banaudi
  • S Forzano
  • G B Ferrero
  • C Rossi
  • A Dotta
  • A Mussa
  • A Marinosci
  • M J Martínez-Aedo
  • F Pantaleoni
  • A Salerni
  • C Brogna
  • A Dickmann
  • L Cesarini
  • F Colitto
  • J P López-Siguero
  • S Staccioli
  • A Selicorni
  • I Vasta
  • M Cerutti
  • C Leoni
  • G Zampino
  • C Carta
  • K Hahlen
  • S Martinelli
  • G J L Kaspers
  • C A Stratakis
  • M C Heinrich
  • M T Collins
  • D de Lange
  • D Reinhardt
  • P G Robey
  • C M Zwaan
  • U Creutzig
  • P Harrell
  • S Sachs
  • K Fridrich
  • A Slavotinek
  • M Muenke

Detail Information

Publications12

  1. ncbi A competitive PCR-based method to measure human fibroblast growth factor receptor 1-4 (FGFR1-4) gene expression
    M Tartaglia
    Laboratorio di Metabolisma e Biochimica Patologica, Istituto Superiore di Sanita, Rome, Italy
    DNA Cell Biol 20:367-79. 2001
    ....
  2. ncbi Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
    M Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Nat Genet 29:465-8. 2001
    ..This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity...
  3. ncbi Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
    M Tartaglia
    Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Rome, Italy
    Hum Genet 101:47-50. 1997
    ..This finding indicates the genetic homogeneity of the "heterogeneous" Jackson-Weiss phenotype and a common molecular basis for these apparently "clinically distinct" craniosynostotic disorders...
  4. ncbi Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis
    M Tartaglia
    Reparto di Genetica Molecolare, Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Viale Regina Elena, 299, I 00161 Rome, Italy
    Childs Nerv Syst 15:389-93; discussion 393-4. 1999
    ....
  5. ncbi Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes
    M Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Clin Genet 63:423-6. 2003
    ..With our previous exclusion of PTPN11 mutations in CFC syndrome, these data suggest distinct genetic etiologies for Noonan, CFC and Costello syndromes...
  6. doi Prenatal features of Noonan syndrome: prevalence and prognostic value
    G Baldassarre
    Department of Pediatrics, University of Torino, Torino, Italy
    Prenat Diagn 31:949-54. 2011
    ..We have reviewed the prenatal findings in NS and we have correlated them with genotype and postnatal phenotype...
  7. doi Visual function in Noonan and LEOPARD syndrome
    P Alfieri
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Neuropediatrics 39:335-40. 2008
    ..Our results suggest that visual and visuoperceptual abilities are commonly impaired in patients with Noonan and LEOPARD syndrome and they are probably related to a multifactorial etiology...
  8. ncbi Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
    M Tartaglia
    Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Rome, Italy
    Hum Genet 99:602-6. 1997
    ....
  9. pmc Noonan syndrome: clinical aspects and molecular pathogenesis
    M Tartaglia
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Mol Syndromol 1:2-26. 2010
    ..These recent discoveries demonstrate that the substantial phenotypic variation characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved...
  10. pmc Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome
    J S Lee
    J Med Genet 42:e11. 2005
  11. ncbi Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia
    B F Goemans
    Br J Haematol 130:801-3. 2005
  12. ncbi [SOS1 mutation: a new cause of Noonan syndrome]
    M M Serrano-Martín
    Servicio de Endocrinología Pediátrica Departamento de Pediatría Hospital Materno Infantil Carlos Haya Málaga España
    An Pediatr (Barc) 68:365-8. 2008
    ..That difference in genotype has a relationship with phenotype that we must investigate. We report a case of Noonan syndrome due to an SOS1 mutation; we describe his phenotype and subsequent outcome...