R. C.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (2006)

  • Niihori,
  • T.,
  • Aoki,
  • Y.,
  • Narumi,
  • Y.,
  • ...

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which...

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient (2006)

  • Crawford,
  • J.,
  • Lower,
  • K.M.,
  • Hennekam,
  • R.C.,
  • ...

BACKGROUND: Borjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function. OBJECTIVE:...

Testicular cancer in a patient with Primrose syndrome (2006)

  • Mathijssen,
  • I.B.,
  • Van Hasselt-van Der Velde,
  • Hennekam,
  • R.C.

A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial features, large calcified pinnae and a huge torus palatinus. All features are...

[Possible teratogenic effects of thiamazole] (2006)

A newborn male presented with choanal atresia and minor dysmorphic facial features. At 4 years of age he showed delayed speech and language development. His mother had been treated with thiamazole...

Massive-Star Supernovae as Major Dust Factories (2006)

  • Sugerman,
  • B.E.K.,
  • Ercolano,
  • B.,
  • Barlow,
  • M.J.,
  • ...

We present late-time optical and mid-infrared observations of the Type II supernova 2003gd in the galaxy NGC 628. Mid-infrared excesses consistent with cooling dust in the ejecta are observed 499 to...

Baby Boomers na Terceira Idade, Uma Oportunidade de Mercado: Um Estudo da Indústria de Cosméticos Natura (2005)

Trabalho apresentado no Intercom Júnior, evento componente do XXVIII Congresso Brasileiro de Ciências da Comunicação, Rio de Janeiro, RJ, 05-09,setembro,2005  Este...

Representações Sociais e a Crônica, seus Suportes e as Malhas do Tempo: do Jornal ao Livro (2005)

Trabalho apresentado no NP02 - Jornalismo no XXVII Congresso Brasileiro de Ciências da Comunicação, Porto Alegre RS, 2004.  Este trabalho busca analisar o papel da...

TEORIA DAS REDES E REDES SOCIAIS NA INTERNET: Considerações sobre o Orkut, os Weblogs e os Fotologs (2005)

Trabalho apresentado no NP 08 - Tecnologias da Informação e da Comunicação no XXVII Congresso Brasileiro de Ciências da Comunicação, Porto Alegre RS,...

Redes Sociais no Ciberespaço: Uma proposta de Estudo (2005)

Trabalho apresentado no NP08 - Tecnologias da Informação e da Comunicação durante o XXVIII Congresso Brasileiro de Ciências da Comunicação, Rio de...

A dimensão semiótica da violência (2005)

Trabalho apresentado no NP 15 - Semiótica da Comunicação no XXVII Congresso Brasileiro de Ciências da Comunicação, Porto Alegre RS, 2004.  Este trabalho...

A semiodiversidade diante da irreversibilidade do tempo (2005)

Trabalho apresentado no NP15 - Semiótica da Comunicação durante o XXVIII Congresso Brasileiro de Ciências da Comunicação, Rio de Janeiro, RJ,...

Soluble adhesion molecules in Gilles de la Tourette's syndrome (2005)

  • Martino,
  • D.,
  • Church,
  • A.J.,
  • Defazio,
  • G.,
  • ...

To investigate the immune-mediated response in TS, and its relationship with streptococcal infection, we measured serum levels of soluble intercellular adhesion molecule-1 (ICAM-1), vascular cell...

Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control study (2005)

  • Bukulmez,
  • H.,
  • Fife,
  • M.,
  • Tsoras,
  • M.,
  • ...

Juvenile rheumatoid arthritis (JRA) comprises a group of chronic systemic inflammatory disorders that primarily affect joints and can cause long-term disability. JRA is likely to be a complex genetic...

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness (2005)

There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from...

Etiology of mental retardation in children referred to a tertiary care center: a prospective study (2005)

A prospective assessment following a step-wise protocol in 281 patients with unexplained cognitive delay was used to assess diagnostic possibilities. Diagnostic procedures were complex and required a...

Hyperventilation in severe diabetic ketoacidosis (2005)

  • Tasker,
  • R.C.,
  • Lutman,
  • D.,
  • Peters,
  • M.J.

OBJECTIVE: To explore whether the carbon dioxide-bicarbonate (Pco(2)-HCO(3)) buffering system in blood and cerebrospinal fluid (CSF) in diabetic ketoacidosis should influence the approach to...

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease (2005)

  • Roelfsema,
  • J.H.,
  • White,
  • S.J.,
  • Ariyurek,
  • Y.,
  • ...

CREB-binding protein and p300 function as transcriptional coactivators in the regulation of gene expression through various signal-transduction pathways. Both are potent histone acetyl transferases....

Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up (2005)

  • Ozgen,
  • H.M.,
  • Overweg-Plandsoen,
  • W.C.,
  • Blees-Pelk,
  • J.,
  • ...

Cerebellar hypoplasia with endosteal sclerosis is an infrequent entity that has been described in only four cases. Major clinical symptoms are cerebellar hypoplasia causing ataxia, hypotonia, mild to...

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors (2005)

  • Navarro,
  • C.L.,
  • Cadinanos,
  • J.,
  • Sandre-Giovannoli,
  • A.,
  • ...

Restrictive dermopathy (RD) is characterized by intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles,...

Malformations of the axial skeleton in Museum Vrolik I: homeotic transformations and numerical anomalies (2005)

The Museum Vrolik collection of anatomical specimens in Amsterdam, The Netherlands, comprises over 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies....

Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome (2005)

The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, hypertonia, camptodactyly, and typical facial...

High incidence of malformation syndromes in a series of 1,073 children with cancer (2005)

Constitutional molecular defects are known to play a role in oncogenesis, as shown by the increased incidence of embryonic cancers in children with Beckwith-Wiedemann syndrome (BWS) or of leukemia in...

Prevalence of rib anomalies in normal Caucasian children and childhood cancer patients (2005)

PURPOSE: To evaluate the prevalence of abnormalities of rib development in normal Caucasian children and patients with childhood cancer. MATERIALS AND METHODS: Chest radiographs of 881 Caucasian...

Soluble adhesion molecules in acute disseminated encephalomyelitis (2005)

  • Martino,
  • D.,
  • Branson,
  • J.A.,
  • Church,
  • A.J.,
  • ...

Soluble adhesion molecules are overexpressed in neuroinflammatory disorders. Their synthesis parallels that of their membrane-bound counterparts, which modulate lymphocyte transmigration through the...

Tracing Sydenham's chorea: historical documents from a British paediatric hospital (2005)

  • Martino,
  • D.,
  • Tanner,
  • A.,
  • Defazio,
  • G.,
  • ...

Sydenham's chorea (SC) became a well defined nosological entity only during the second half of the nineteenth century. Such progress was promoted by the availability of large clinical series provided...

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship (2005)

  • Kuijpers,
  • T.W.,
  • Alders,
  • M.,
  • Tool,
  • A.T.,
  • ...

Shwachman-Diamond syndrome (SDS) is an autosomal-recessive disorder characterized by short stature, exocrine pancreatic insufficiency, and hematologic defects. The causative SBDS gene was sequenced...

Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity (2005)

  • Kaissi,
  • A.A.,
  • Chehida,
  • F.B.,
  • Gharbi,
  • H.,
  • ...

A 10-year-old boy was found to have an unusual presentation of the Sprengel anomaly, omovertebral bones, and segmentation defects of the vertebral column at the cervical, thoracic, and sacral level....

Mannose-binding lectin enhances phagocytosis and killing of Neisseria meningitidis by human macrophages (2005)

Deficiency of mannose-binding lectin (MBL) is probably the most common human immunodeficiency and is associated with an increased risk of mucosally acquired infections including meningococcal...

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations (2005)

  • Johnston,
  • J.J.,
  • Olivos-Glander,
  • I.,
  • Killoran,
  • C.,
  • ...

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We...

Congenital brain anomalies in distal cholesterol biosynthesis defects (2005)

Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog...

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood (2005)

  • Harrison,
  • R.E.,
  • Berger,
  • R.,
  • Haworth,
  • S.G.,
  • ...

Background - Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and...

Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis (2005)

Purpose: Ion channel activity is involved in several basic cellular behaviors that are integral to metastasis (e.g., proliferation, motility, secretion, and invasion), although their contribution to...

Acute disseminated encephalomyelitis or multiple sclerosis: can the initial presentation help in establishing a correct diagnosis? (2005)

The differential diagnosis of CNS white matter disease is broad, and can be divided into vascular, metabolic, infective, or inflammatory aetiologies. Isolated inflammatory disorders of the CNS are...

Incidence of anti-brain antibodies in children with obsessive-compulsive disorder (2005)

  • Dale,
  • R.C.,
  • Heyman,
  • I.,
  • Giovannoni,
  • G.,
  • ...

Background Obsessions and compulsions may occur in the post-streptococcal disorders Sydenham's chorea and paediatric autoimmune neuropsychiatric disorders associated with streptococcus (PANDAS).The...

Post-streptococcal autoimmune disorders of the central nervous system (2005)

Group A Streptococcus can induce autoimmune disease in humans with particular involvement of the heart, joints, and brain. The spectrum of post-streptococcal disease of the central nervous system...

Meningitis is a common cause of convulsive status epilepticus with fever (2005)

Aims: In children with convulsive status epilepticus (CSE) with fever, to determine the likelihood of acute bacterial meningitis ( ABM), the proportion that are treated with antibiotics, and the...

Mutation screening in Borjeson-Forssman-Lehmann Syndrome (BFLS): Identification of a novel, de novo PHF6 mutation in a female patient (2005)

  • Crawford,
  • J.,
  • Lower,
  • K.M.,
  • Hennekam,
  • R.C.,
  • ...

BACKGROUND: Borjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X-linked disorder of intellectual disability, characteristic craniofacial features, microcephaly,...

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia (2005)

  • Bonioli,
  • E.,
  • Hennekam,
  • R.C.,
  • Spena,
  • G.,
  • ...

We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal...

Diagnostic protocol for lymphoscintigraphy in newborns (2005)

  • Bellini,
  • C.,
  • Boccardo,
  • F.,
  • Taddei,
  • G.,
  • ...

The purpose of this methods paper is to offer pediatricians and nuclear medicine physicians a diagnostic protocol for performing lymphoscintigraphy in newborns that may be useful for enhancing...

The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co- segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype (2005)

  • Bowen,
  • D.J.,
  • Collins,
  • P.W.,
  • Lester,
  • W.,
  • ...

The molecular pathogenesis of type 1 von Willebrand disease (VWD) is uncertain in most patients. We examined 30 type 1 VWD families in the UK Haemophilia Centre Doctors' Organization study....

Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation (2005)

PURPOSE: The objective of this study was to investigate whether the knowledge of genetics relevant for daily practice among medical students nearing graduation in the Netherlands was sufficient to...

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities (2005)

The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and...

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome (2005)

  • Aligianis,
  • I.A.,
  • Johnson,
  • C.A.,
  • Gissen,
  • P.,
  • ...

Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified...

Clinical and molecular characterization of a family with autosomal recessive cornea plana (2005)

BACKGROUND: Autosomal recessive cornea plana is characterized by a flattened corneal surface associated with hyperopia and various anterior segment abnormalities. Mutations have been detected in the...

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations (2005)

  • Forshew,
  • T.,
  • Johnson,
  • C.A.,
  • Khaliq,
  • S.,
  • ...

Isolated (non-syndromic) congenital cataract may be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive trait. Considerable progress has been made in identifying genes and...

Use of the silastic sheath in bladder neck reconstruction (2004)

OBJECTIVE: The study compared two populations of patients undergoing bladder neck reconstruction using the silastic sheath in two major pediatric centers. The success with this technique was markedly...

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome (2004)

  • Kuijpers,
  • T.W.,
  • Nannenberg,
  • E.,
  • Alders,
  • M.,
  • ...

CLINICAL FINDINGS: Aplastic anemia was diagnosed at birth for a first child from healthy nonconsanguineous parents. The girl had hypoglycemia, which normalized within 2 months. Cow milk allergy was...

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness (2004)

There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from...

Genotype-phenotype correlation in patients suspected of having sotos syndrome (2004)

BACKGROUND: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and...

Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum (2004)

  • Bellini,
  • C.,
  • Mazzella,
  • M.,
  • Campisi,
  • C.,
  • ...

We report on three infants with congenital chylothorax (CC) and congenital pulmonary lymphangiectasia (CPL). CPL appears to be a characteristic pathological finding in CC. Through the use of...

Neuroblastoma, maternal valproic acid use, in-vitro fertilization and family history of mosaic chromosome 22: coincidence or causal relationship? (2004)

  • Merks,
  • J.H.,
  • Ceelie,
  • N.,
  • Caron,
  • H.N.,
  • ...

We report a family with co-occurring disorders including neuroblastoma in the first child conceived by in-vitro fertilization with history of sodium valproate use by the mother during pregnancy and...

Internal transport barriers in tokamak plasmas (2003)

Internal transport barriers in tokamak plasmas are explored in order to improve confinement and stability beyond the reference scenario, used for the ITER extrapolation, and to achieve higher...

Anthropometry and body composition of 18 year old males according to breastfeeding duration: a birth cohort study from Brazil (2003)

OBJECTIVE: To assess the association between duration of breast feeding and measures of adiposity in adolescence. DESIGN: Population based birth cohort study. SETTING: Pelotas, a city of 320 000...

Covering Numbers and Support Vector Machines (2002)

  • Guo,
  • Y.,
  • Bartlett,
  • P. L.,
  • Shawe-Taylor,
  • J.,
  • ...

A variable inertial system for measuring the contractile properties of human muscle (2001)

PURPOSE: A flywheel system of variable inertia is described for inferring the mechanical properties of human muscle during a single explosive movement. METHODS: The system consists of a lightweight...

Relationship between the production of prostaglandins and progesterone by luteinizing human granulosa cells (2001)

  • Fowkes,
  • R.C.,
  • Chandras,
  • C.,
  • Chin,
  • E.C.,
  • ...

Luteinizing granulosa cells synthesize high concentrations of progesterone, prostaglandin (PG) E(2) and PGF(2 alpha). The objective of this study was to explore the relationship between prostaglandin...

Retroviral infection of the FGF2 gene into MCF-7 cells induces branching morphogenesis, retards cell growth and suppresses tumorigenicity in nude mice (2001)

  • Liu,
  • D.,
  • Buluwela,
  • L.,
  • Ali,
  • S.,
  • ...

FGF2 (basic fibroblast growth factor) is a multifunctional growth factor and exhibits diverse function in different cell types. In breast, loss of FGF2 expression is associated with malignant...

PTEN mutations and Proteus syndrome (2001)

  • Eng,
  • C.,
  • Thiele,
  • H.,
  • Zhou,
  • X.P.,
  • ...

Atomic force microscopy study of the biocidal effect of super-oxidised water, Sterilox (1998)

Sterilox is a new biocide produced with an electrochemical system which is marketed by Sterilox Medical Ltd. Sterilox is used in the medical industry in place of glutaraldehyde to cold-sterilise...

Bank marketing information :--comparative attitudinal analysis of bank consumers and bank executives /--by R. C. Shades. (1972)

Photocopy of typescript. Ann Arbor, Mich. : University Microfilms, 1975. 21 cm.

Firoz Tughluq, 1351-1388 A.D.--[by] R. C. Jauhri. (1968)

Thesis--Agra University, 1965.

Joule-Thomson coefficients and equations of state for mixtures. (1964)

Abstracted in Dissertation abstracts v. 25 (1965) pt. 6, p. 6455.

 
Additional Information

Publishing period:

1964 - 2006 (125)

Co-authors: