Lista de obras - Sandra Giustini - Dominio Público Uruguay

A rare association between neurofibromatosis type 1 and vulvar sarcoma

A study of 17 patients affected with plexiform neurofibromas in upper and lower extremities: comparison between different surgical techniques.

artículo científico publicado en 2009

Adrenal pheochromocytoma and jejunal neurofibroma in type 1 neurofibromatosis: report of a case

scientific article published on 01 May 2007

An uncommon association between lipomatous hypertrophy of the interatrial septum (LHIS) and Dercum's disease

artículo científico publicado en 2013

Basal cell carcinomas in a young woman with Steinert's disease

artículo científico publicado en 2014

Changes in the hair in a case of biotinidase deficiency

artículo científico publicado en 1989

Complete remission of Merkel cell carcinoma treated with electrochemotherapy and etoposide

artículo científico publicado el 1 de junio de 2013

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

artículo científico publicado en 2007

Efficacy of topical 10% urea-based lotion in patients with ichthyosis vulgaris: a two-center, randomized, controlled, single-blind, right-vs.-left study in comparison with standard glycerol-based emollient cream

scientific article published on 19 October 2011

Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas

artículo científico publicado en 2004

Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis.

artículo científico publicado en 2010

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

scientific article published on 01 June 2010

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1

article

Integrated imaging in peripheral nerve lesions in type 1 neurofibromatosis

scientific article published on 01 April 2002

Late Infantile Ceroid-Lipofuscinoses

scientific article published on 01 October 1993

Leopard syndrome

scientific article published on 15 March 2008

Lisch nodules of the iris in neurofibromatosis type 1.

artículo científico publicado en 2004

Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1

artículo científico publicado en 2014

Multiple painful papulo-nodular lesions: clinical pitfall

artículo científico publicado en 2014

Myotonic dystrophy (Steinert disease): a morphologic and biochemical hair study

artículo científico publicado en 1999

NF1 gene analysis based on DHPLC

scientific article published on 01 February 2003

Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies

artículo científico publicado en 2020

Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects

artículo científico publicado en 2010

Neurofibromatosis type 1 associated with systemic vasculopathy.

artículo científico publicado en 1998

Neurofibromatosis type I and Arnold-Chiari malformation

artículo científico publicado en 2002

Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases. ⬇️

artículo científico publicado en 2014

Retrocaval mass in patient with von Recklinghausen disease: case report

artículo científico publicado en 2012

Role of maxillofacial surgery in patients with neurofibromatosis type I.

artículo científico publicado en 2007

Segmental neurofibromatosis with only macular lesions

artículo científico publicado en 1993

Serum mitogenic activity on in vitro glial cells in Neurofibromatosis type 1.

artículo científico publicado en 1998

Surgical management of abdominal manifestations of type 1 neurofibromatosis: experience of a single center.

artículo científico publicado en 2010

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies

scientific article published on 01 May 1988

Trichothiodystrophy: ultrastructural studies of two patients

artículo científico publicado en 1993

What's new in trichothiodystrophy

scientific article published on 01 January 2001

[Clinical variants of pachydermoperiostosis: complete, incomplete and atypical forms]

artículo científico publicado en 1989

[Ito's hypomelanosis. Ultrastructural investigation of the skin and the hair]

scientific article published on 01 November 1988

[Preliminary results of the use of a microanalysis system of the hair in patients with trichothiodystrophy]

artículo científico publicado en 1988

[The hair in a case of biotinidase deficiency]

scientific article published on 01 November 1988

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

artículo científico publicado en 2014

Lista de obras de Sandra Giustini

A rare association between neurofibromatosis type 1 and vulvar sarcoma

A study of 17 patients affected with plexiform neurofibromas in upper and lower extremities: comparison between different surgical techniques.

Adrenal pheochromocytoma and jejunal neurofibroma in type 1 neurofibromatosis: report of a case

An uncommon association between lipomatous hypertrophy of the interatrial septum (LHIS) and Dercum's disease

Basal cell carcinomas in a young woman with Steinert's disease

Changes in the hair in a case of biotinidase deficiency

Complete remission of Merkel cell carcinoma treated with electrochemotherapy and etoposide

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

Efficacy of topical 10% urea-based lotion in patients with ichthyosis vulgaris: a two-center, randomized, controlled, single-blind, right-vs.-left study in comparison with standard glycerol-based emollient cream

Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas

Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis.

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1

Integrated imaging in peripheral nerve lesions in type 1 neurofibromatosis

Late Infantile Ceroid-Lipofuscinoses

Leopard syndrome

Lisch nodules of the iris in neurofibromatosis type 1.

Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1

Multiple painful papulo-nodular lesions: clinical pitfall

Myotonic dystrophy (Steinert disease): a morphologic and biochemical hair study

NF1 gene analysis based on DHPLC

Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies

Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects

Neurofibromatosis type 1 associated with systemic vasculopathy.

Neurofibromatosis type I and Arnold-Chiari malformation

Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases. ⬇️

Retrocaval mass in patient with von Recklinghausen disease: case report

Role of maxillofacial surgery in patients with neurofibromatosis type I.

Segmental neurofibromatosis with only macular lesions

Serum mitogenic activity on in vitro glial cells in Neurofibromatosis type 1.

Surgical management of abdominal manifestations of type 1 neurofibromatosis: experience of a single center.

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies

Trichothiodystrophy: ultrastructural studies of two patients

What's new in trichothiodystrophy

[Clinical variants of pachydermoperiostosis: complete, incomplete and atypical forms]

[Ito's hypomelanosis. Ultrastructural investigation of the skin and the hair]

[Preliminary results of the use of a microanalysis system of the hair in patients with trichothiodystrophy]

[The hair in a case of biotinidase deficiency]

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.