L Garavelli

Summary

Affiliation: Reggio Emilia
Country: Italy

Publications

  1. pmc Current themes in molecular pediatrics: molecular medicine and its applications
    Andrea Superti-Furga
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
    Ital J Pediatr 36:20. 2010
  2. doi request reprint Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly
    Livia Garavelli
    Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy
    Am J Med Genet A 161:1750-4. 2013
  3. doi request reprint Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia
    Livia Garavelli
    Clinical Genetics Unit Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy
    Am J Med Genet A 158:2245-9. 2012
  4. ncbi request reprint Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling
    L Garavelli
    Department of Pediatrics and Clinical Genetics, S Maria Nuova Hospital, Reggio Emilia, Italy
    Genet Couns 11:111-8. 2000
  5. pmc Mowat-Wilson syndrome
    Livia Garavelli
    Clinical Genetics Unit, Obstetric and Pediatric Department, S, Maria Nuova Hospital, Reggio Emilia, Italy
    Orphanet J Rare Dis 2:42. 2007
  6. ncbi request reprint Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case
    L Garavelli
    Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Neuropediatrics 38:200-3. 2007
  7. doi request reprint Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature
    L Garavelli
    Clinical Genetics Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
    Am J Med Genet A 149:417-26. 2009
  8. doi request reprint Mandibuloacral dysplasia type A in childhood
    L Garavelli
    Clinical Genetic Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
    Am J Med Genet A 149:2258-64. 2009
  9. doi request reprint Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition
    L Garavelli
    Clinical Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Neuropediatrics 40:284-6. 2009
  10. ncbi request reprint Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review
    L Garavelli
    Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Genet Couns 17:449-55. 2006

Detail Information

Publications22

  1. pmc Current themes in molecular pediatrics: molecular medicine and its applications
    Andrea Superti-Furga
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
    Ital J Pediatr 36:20. 2010
    ..Awareness of these potential conflicts may help in recognizing and dealing with these issues...
  2. doi request reprint Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly
    Livia Garavelli
    Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy
    Am J Med Genet A 161:1750-4. 2013
    ..It would be prudent to alter the suggested surveillance for this rare disorder...
  3. doi request reprint Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia
    Livia Garavelli
    Clinical Genetics Unit Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy
    Am J Med Genet A 158:2245-9. 2012
    ....
  4. ncbi request reprint Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling
    L Garavelli
    Department of Pediatrics and Clinical Genetics, S Maria Nuova Hospital, Reggio Emilia, Italy
    Genet Couns 11:111-8. 2000
    ..The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling...
  5. pmc Mowat-Wilson syndrome
    Livia Garavelli
    Clinical Genetics Unit, Obstetric and Pediatric Department, S, Maria Nuova Hospital, Reggio Emilia, Italy
    Orphanet J Rare Dis 2:42. 2007
    ..Psychomotor development is delayed in all patients, therefore rehabilitation (physical therapy, psychomotor and speech therapy) should be started as soon as possible...
  6. ncbi request reprint Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case
    L Garavelli
    Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Neuropediatrics 38:200-3. 2007
    ..The authors argued that these findings identified a new and distinct malformation syndrome, which they named MPPH. We report on a new case of MPPH, the first to be described after the original series (Mirzaa et al., 2004)...
  7. doi request reprint Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature
    L Garavelli
    Clinical Genetics Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
    Am J Med Genet A 149:417-26. 2009
    ..The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition...
  8. doi request reprint Mandibuloacral dysplasia type A in childhood
    L Garavelli
    Clinical Genetic Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
    Am J Med Genet A 149:2258-64. 2009
    ....
  9. doi request reprint Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition
    L Garavelli
    Clinical Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Neuropediatrics 40:284-6. 2009
    ..It is thus imperative that this life-threatening condition should be well known...
  10. ncbi request reprint Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review
    L Garavelli
    Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Genet Couns 17:449-55. 2006
    ..To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature...
  11. ncbi request reprint Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1
    Livia Garavelli
    Department of Pediatrics, S Maria Nuova Hospital, Reggio Emilia, Italy
    Acta Biomed 76:45-8. 2005
    ..This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder...
  12. ncbi request reprint Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog
    Livia Garavelli
    Department of Pediatrics and Clinical Genetics, S Maria Nuova Hospital, 80 42100 Reggio Emilia, Italy
    Am J Med Genet A 127:93-5. 2004
    ..SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala...
  13. ncbi request reprint Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review
    L Garavelli
    Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Horm Res 63:187-92. 2005
    ..MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype...
  14. ncbi request reprint MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature
    L Garavelli
    Department of Paediatrics and Genetics Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Genet Couns 16:117-28. 2005
    ..Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications...
  15. ncbi request reprint Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosis
    E Guareschi
    Department of Dermatology, S Maria Nuova Hospital, Reggio Emilia, Italy
    Pediatr Dermatol 24:426-8. 2007
  16. doi request reprint Holt-Oram syndrome associated with anomalies of the feet
    L Garavelli
    Clinical Genetics Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
    Am J Med Genet A 146:1185-9. 2008
    ..We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis...
  17. ncbi request reprint A short history of the initial discovery of the SHOX gene
    S Bernasconi
    Department of Pediatrics, University of Parma, Parma, Italy
    J Endocrinol Invest 33:3-6. 2010
    ..In the same year, both Ellison and Rao demonstrated that SHOX is most clearly expressed in bone marrow fibroblasts, thus suggesting that SHOX has a particular importance in bone growth and maturation...
  18. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  19. ncbi request reprint A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
    Eur J Hum Genet 12:797-804. 2004
    ..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome...
  20. ncbi request reprint Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
    Alfredo Orrico
    Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy
    Eur J Hum Genet 12:16-23. 2004
    ..The current study provides further evidence that mutations of FGD1 may cause AAS and expands the spectrum of disease-causing mutations. The importance of considering the neuropsychological phenotype of AAS patients is discussed...
  21. ncbi request reprint Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome
    Fiorella Gurrieri
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Facolta di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy
    Am J Med Genet A 126:204-7. 2004
    ..This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition...
  22. ncbi request reprint Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia
    Alessandra Tessa
    Molecular Medicine and Genetics, IRCCS Bambino Gesù, Rome, Italy
    Hum Mutat 22:104. 2003
    ..In two cases, however, a limb-girdle myopathy affecting the shoulder muscles was also identified. Our data add new variants to the repertoire of RUNX2 mutations in CCD...