16 Result(s)

Article

DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma

DNA methylation sequencing and bioinformatic analyses uncover an epigenetic disease spectrum in Ewing sarcoma. These characteristic epigenome patterns correlate with state of differentiation and disease aggres...

Nathan C Sheffield, Gaelle Pierron, Johanna Klughammer, Paul Datlinger… in Nature Medicine (2017)

Article

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-ch...

Massimiliano Rossi, Christine M. Hall, Raymonde Bouvier… in Pediatric Radiology (2015)

Article

Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia

McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. In addition to the metaphyseal chondro...

Justine Bacchetta, Bruno Ranchin, Anne Sophie Brunet… in Pediatric Nephrology (2009)

Article

‘Renal hypersensitivity’ to inulin and IgA nephropathy

Hypersensitivity to inulin (polyfructan) is a rare event; two cases of food allergy and some patients presenting with allergy and hypersensitivity after inulin infusion have been reported. An 11-year-old boy s...

Justine Bacchetta, Florence Villard, Thierry Vial, Laurence Dubourg… in Pediatric Nephrology (2008)

Article

Nephronophthisis-like nephritis associated with fibrous dysplasia of bone

Nephronophthisis is a chronic tubulointerstitial nephritis with autosomal recessive inheritance whose evolution to end-stage renal disease is insidious but constant. Fibrous dysplasia of bone is characterized ...

Justine Bacchetta, Roland Chapurlat, Raymonde Bouvier… in Pediatric Nephrology (2008)

Article

Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases

We report here four cases of pediatric patients in whom the diagnosis of cystic fibrosis was made only after the histological examination of a liver specimen obtained by biopsy (three cases) or at autopsy (one...

Sophie Collardeau-Frachon, Raymonde Bouvier, Catherine Le Gall… in Virchows Archiv (2007)

Article

So-called infantile haemangiopericytoma of the kidney

Françoise Boman, Pierre Leblond, Sophie Taieb, Frédérique Dijoud… in Virchows Archiv (2007)

Article

Nonmetastatic renal-cell carcinoma: is it really possible to define rational guidelines for post-treatment follow-up?

Recent advances in tumor cytogenetics and molecular biology have clarified that renal-cell carcinoma is not a single entity but comprises a variety of tumors with different histological features, genetic patte...

Olivier Rouvière, Raymonde Bouvier, Sylvie Négrier… in Nature Clinical Practice Oncology (2006)

Article

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onse...

Olivier Gribouval, Marie Gonzales, Thomas Neuhaus, Jacqueline Aziza… in Nature Genetics (2005)

Article

Precursor B-cell lymphoblastic leukemia as a cause of a bilateral nephromegaly

Nephromegaly and non-oliguric acute renal failure is an unusual manifestation of lymphoblastic infiltration of the kidneys. We report the clinical history of a female child where a precursor B-cell lymphoblast...

Anelia Boueva, Raymonde Bouvier in Pediatric Nephrology (2005)

Article

A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23)

A distinctive subset of renal carcinomas is associated with Xp11.2 translocations and resulting TFE3 gene fusions (PRCC–TFE3, PSF–TFE3, NONO–TFE3, ASPL–TFE3), encoding related aberrant transcription factors. We r...

Pedram Argani, Man Yee Lui, Jérôme Couturier, Raymonde Bouvier… in Oncogene (2003)

Article

Characterization of time-enhancement curves of benign and malignant prostate tissue at dynamic MR imaging

Our objectives were to determine time-enhancement curves of prostate cancer, peripheral zone, and adenoma at gadolinium-enhanced MR imaging, and to determine if a high-spatial/low-temporal dynamic imaging cou...

Olivier Rouvière, Anne Raudrant, René Ecochard… in European Radiology (2003)

Article

Skeletal and total body volumes of human fetuses: assessment of reference data by spiral CT

Objective: To define reference data for skeletal and total body volumes of normal human fetuses. Materials and methods: Spiral CT was used to assess the skeletal and total body volumes of 31 norm...

Pierre M. Braillon, Annie Buenerd, Alexandre Lapillonne… in Pediatric Radiology (2002)

Article

Familial infantile nephrotic syndrome with ocular abnormalities

Two siblings born from consanguineous parents experienced infantile nephrotic syndrome with ocular and neurological abnormalities; the boy also had a micropenis; both patients died before age 1 year. An initia...

Catherine Glastre, Pierre Cochat, Raymonde Bouvier, Simone Colon… in Pediatric Nephrology (1990)