Rosanna Pallotta

Summary

Affiliation: University of Chieti
Country: Italy

Publications

  1. ncbi request reprint Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family
    R Pallotta
    Center for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G D Annunzio University, Chieti, Italy
    Am J Med Genet 76:252-4. 1998
  2. ncbi request reprint Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature
    R Pallotta
    Department of Medicine and Aging Sciences, G d Annunzio University School of Medicine, Chieti, Italy
    Radiology 212:847-52. 1999
  3. ncbi request reprint Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB
    R Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
    Am J Med Genet 95:477-81. 2000
  4. ncbi request reprint A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency
    R Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G D Annunzio University, Chieti, Italy
    Am J Med Genet 104:282-6. 2001
  5. ncbi request reprint A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance
    Rosanna Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
    Clin Dysmorphol 16:157-61. 2007
  6. ncbi request reprint Neonatal suppurative parotitis: a study of five cases
    G Sabatino
    Neonatal Intensive Care Unit, University of Chieti, Italy
    Eur J Pediatr 158:312-4. 1999
  7. ncbi request reprint Classical lissencephaly associated with dolichocephaly, hair and nail defect
    Claudio Celentano
    Department of Medicine and Aging, Section of Obstetric and Gynecology, Nuovo Policlinico, University G D Annunzio, Medical School, University of Chieti, Chieti, Italy
    Brain Dev 28:392-4. 2006
  8. pmc Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    Giuseppe Novelli
    Department of Biopathology and Diagnostic Imaging, Faculty for Medicine and Surgery, University of Rome Tor Vergata, Via Montpellier 1, 00133 Romea, Italy
    Am J Hum Genet 71:426-31. 2002
  9. ncbi request reprint Wiedemann-Rautenstrauch or trichorhinophalangeal syndrome?
    Rosanna Pallotta
    Pediatr Dermatol 22:573; author reply 573-4. 2005

Collaborators

Detail Information

Publications9

  1. ncbi request reprint Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family
    R Pallotta
    Center for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G D Annunzio University, Chieti, Italy
    Am J Med Genet 76:252-4. 1998
    ..The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance...
  2. ncbi request reprint Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature
    R Pallotta
    Department of Medicine and Aging Sciences, G d Annunzio University School of Medicine, Chieti, Italy
    Radiology 212:847-52. 1999
    ....
  3. ncbi request reprint Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB
    R Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
    Am J Med Genet 95:477-81. 2000
    ..The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum...
  4. ncbi request reprint A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency
    R Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G D Annunzio University, Chieti, Italy
    Am J Med Genet 104:282-6. 2001
    ..We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency...
  5. ncbi request reprint A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance
    Rosanna Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
    Clin Dysmorphol 16:157-61. 2007
    ..The extended skeletal involvement raises the question as to how this case is classified within this heterogeneous group of disorders and we believe this might represent a new and distinct entity...
  6. ncbi request reprint Neonatal suppurative parotitis: a study of five cases
    G Sabatino
    Neonatal Intensive Care Unit, University of Chieti, Italy
    Eur J Pediatr 158:312-4. 1999
    ..52 (0.62-49.35). Staphylococcus aureus was the causative organism most commonly detected in the hospital-acquired cases. Antimicrobial therapy was effective in all cases; surgery was not required...
  7. ncbi request reprint Classical lissencephaly associated with dolichocephaly, hair and nail defect
    Claudio Celentano
    Department of Medicine and Aging, Section of Obstetric and Gynecology, Nuovo Policlinico, University G D Annunzio, Medical School, University of Chieti, Chieti, Italy
    Brain Dev 28:392-4. 2006
    ..Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition...
  8. pmc Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    Giuseppe Novelli
    Department of Biopathology and Diagnostic Imaging, Faculty for Medicine and Surgery, University of Rome Tor Vergata, Via Montpellier 1, 00133 Romea, Italy
    Am J Hum Genet 71:426-31. 2002
    ..Patient skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation...
  9. ncbi request reprint Wiedemann-Rautenstrauch or trichorhinophalangeal syndrome?
    Rosanna Pallotta
    Pediatr Dermatol 22:573; author reply 573-4. 2005