P. J.

Self-Calibrating 3D-Ultrasound-Based Bone Registration for Minimally Invasive Orthopedic Surgery (2006)

Intraoperative freehand three-dimensional (3-D) ultrasound (3D-US) has been proposed as a noninvasive method for registering bones to a preoperative computed tomography image or computer-generated...

Specialist opinion (2006)

  • Thomson,
  • P.J.,
  • Scully,
  • C.,
  • Felix,
  • D.H.

Cadaver Validation of intensity-based ultrasound to CT registration (2006)

A method is presented for the rigid registration of tracked B-mode ultrasound images to a CT volume of a femur and pelvis. This registration can allow tracked surgical instruments to be aligned with...

The Petrie Medal (2006)

  • Ucko,
  • P.J.,
  • Quirke,
  • S.

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome (2006)

  • Schwartz,
  • P.J.,
  • Spazzolini,
  • C.,
  • Crotti,
  • L.,
  • ...

BACKGROUND: Data on the Jervell and Lange-Nielsen syndrome (J-LN), the long-QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the...

Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells (2006)

  • Meshorer,
  • E.,
  • Yellajoshula,
  • D.,
  • George,
  • E.,
  • ...

Differentiation of embryonic stem (ES) cells from a pluripotent to a committed state involves global changes in genome expression patterns. Gene activity is critically determined by chromatin...

Chemical abundances for Hf 2-2, a planetary nebula with the strongest-known heavy-element recombination lines (2006)

We present high-quality optical spectroscopic observations of the planetary nebula (PN) Hf 2-2. The spectrum exhibits many prominent optical recombination lines (ORLs) from heavy-element ions....

Jornalismo on-line: um novo estilo de jornalismo na era da comunicação virtual? (2005)

Trabalho apresentado no II Colóquio Brasil-Estados Unidos de Ciências da Comunicação, evento componente do XXVIII Congresso Brasileiro de Ciências da...

Earth system analysis for sustainability (2005)

Tissue deformation and shape models in image-guided interventions: a discussion paper (2005)

  • Hawkes,
  • D.J.,
  • Barratt,
  • D.,
  • Blackall,
  • J.M.,
  • ...

This paper promotes the concept of active models in image-guided interventions. We outline the limitations of the rigid body assumption in image-guided interventions and describe how intraoperative...

Cadaver validation of intensity-based ultrasound-to-CT registration (2005)

A method is presented for the registration of tracked B-mode ultrasound images to a CT volume of a femur or pelvis. This registration can allow tracked surgical instruments to be aligned with the CT...

Self-calibrating ultrasound-to-CT bone registration (2005)

We describe a new self-calibrating approach to rigid registration of 3D ultrasound images in which in vivo data acquired for registration are used to simultaneously perform a patient-specific update...

Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. (2005)

  • Roberts,
  • C,
  • Ivins,
  • SM,
  • James,
  • CT,
  • ...

Both Tbx1 and retinoic acid (RA) are key players in embryonic pharyngeal development; loss of Tbx1 produces DiGeorge syndrome-like phenotypes in mouse models as does disruption of retinoic acid...

Familial gigantism caused by an NSD1 mutation. (2005)

A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major...

A rapid and sensitive assay for quantification of siRNA efficiency and specificity (2005)

  • Smart,
  • N.,
  • Scambler,
  • P.J.,
  • Riley,
  • P.R.

RNA Interference has rapidly emerged as an efficient procedure for knocking down gene expression in model systems. However, cross-reactivity, whereby multiple genes may be simultaneously targeted by...

Long-term outcome of intractable ulcerating enterocolitis of infancy (2005)

  • Thapar,
  • N.,
  • Shah,
  • N.,
  • Ramsay,
  • T.D.,
  • ...

Background: Chronic enterocolitis is rare in infancy and accounts for less than 0.5% of all newly diagnosed inflammatory bowel disease (IBD) in the UK. Presentation at this young age is usually...

Outcome after first relapse in childhood acute lymphoblastic leukaemia - lessons from the United Kingdom R2 trial (2005)

  • Roy,
  • A.,
  • Cargill,
  • A.,
  • Love,
  • S.,
  • ...

A retrospective analysis of children with first relapse of acute lymphoblastic leukaemia (ALL), treated on the UKALL R2 protocol at four different hospitals, between June 1995 and December 2002 was...

Refining the diagnoses of inattention and overactivity syndromes: A reanalysis of the Multimodal Treatment study of attention deficit hyperactivity disorder (ADHD) based on ICD-10 criteria for hyperkinetic disorder (2005)

  • Santosh,
  • P.J.,
  • Taylor,
  • E.,
  • Swanson,
  • J.,
  • ...

There are large differences between nations in the diagnosis and management of children with marked impulsiveness and inattention. The differences extend to the names and definitions of disorder and...

Heterozygous mutations of OTX2 cause severe ocular malformations (2005)

Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci...

Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen (2005)

  • Rao,
  • K.,
  • Amrolia,
  • P.J.,
  • Jones,
  • A.,
  • ...

The optimal approach to stem cell transplantation in children with immunodeficiency who lack a matched family donor is controversial. Unrelated donor stem cell transplantation gives equivalent...

Effects of the committee on safety of medicines advice on antidepressant prescribing to children and adolescents in the UK (2005)

  • Murray,
  • M.L.,
  • Thompson,
  • M.,
  • Santosh,
  • P.J.,
  • ...

Background: Psychotropic medication prescribing for children and adolescents rose significantly between 2000 and 2002, including antidepressant prescribing. In 2003, the Committee on Safety of...

Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I (2005)

  • Mundy,
  • H.R.,
  • Georgiadou,
  • P.,
  • Davies,
  • L.C.,
  • ...

Glycogen storage disease type I (GSD-I) is an inherited disorder of carbohydrate metabolism. Hepatic glucose-6- phosphatase is deficient, leading to impaired gluconeogenesis and glycogenolysis....

Deletion of the eNOS gene has a greater impact on the pulmonary circulation of male than female mice (2005)

Nitric oxide is involved in development and postnatal adaptation of the pulmonary circulation. This study aimed to determine whether genetic deletion of nitric oxide synthase ( NOS) would lead to...

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5 '-phosphate oxidase (2005)

In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results in epilepsy. This...

Consumerism in healthcare can be detrimental to child health: lessons from children with functional abdominal pain (2005)

  • Lindley,
  • K.J.,
  • Glaser,
  • D.,
  • Milla,
  • P.J.

AIMS: To determine prognostic indicators in children with severe functional abdominal pain (FAP) and to test the hypothesis that "healthcare consumerism" in these families might be deleterious to the...

L-carnitine and exercise tolerance in medium-chain acyl- coenzyme A dehydrogenase (MCAD) deficiency: A pilot study (2005)

Skeletal muscle function may be impaired in patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, but the value of L-carnitine in their long-term management is not clear. This study...

Maternal phenylketonuria: report from the United Kingdom Registry 1978-97 (2005)

  • Lee,
  • P.J.,
  • Ridout,
  • D.,
  • Walter,
  • J.H.,
  • ...

BACKGROUND: The effects of maternal phenylalanine on the fetus include facial dysmorphism, microcephaly, intrauterine growth retardation, developmental delay, and congenital heart disease. AIMS: To...

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs (2005)

  • Jadeja,
  • S.,
  • Smyth,
  • I.,
  • Pitera,
  • J.E.,
  • ...

Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein...

Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1. (2005)

22q11-deletion (DiGeorge/velocardiofacial) syndrome (22q11DS) is modeled by mutation of murine transcription factor Tbx1. As part of efforts to identify transcriptional targets of Tbx1, we analyzed...

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis (2005)

  • Kelsell,
  • D.P.,
  • Norgett,
  • E.E.,
  • Unsworth,
  • H.,
  • ...

Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have...

Common arterial trunk associated with a homeodomain mutation of NKX2.6 (2005)

  • Heathcote,
  • K.,
  • Braybrook,
  • C.,
  • Abushaban,
  • L.,
  • ...

Persistent truncus arteriosus (PTA) is a failure of septation of the cardiac outflow tract (OFT) into the pulmonary artery and the aorta. A common arterial trunk (CAT) is often diagnosed as PTA in...

Identification of mutations in CUL7 in 3-M syndrome (2005)

  • Huber,
  • C.,
  • Dias-Santagata,
  • D.,
  • Glaser,
  • A.,
  • ...

Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduced placental perfusion(1). Although various causes...

Hypertrophic eosinophilic gastroenteropathy is associated with reduced enterocyte apoptosis (2005)

  • Cuperus,
  • R.,
  • Schappi,
  • M.G.,
  • Shah,
  • N.,
  • ...

Cuperus R, Schappi M G, Shah N, Lindley K J, Milla P J & Smith V V (2005) Histopathology46, 73-80 Hypertrophic eosinophilic gastroenteropathy is associated with reduced enterocyte apoptosisAims : To...

Stem cell transplantation with reduced intensity conditioning for haemophagocytic lymphohistiocytosis (2005)

  • Cooper,
  • N.,
  • Rao,
  • K.,
  • Gilmour,
  • K.,
  • ...

Allogeneic stem cell transplant (SCT) is curative for haemophagocytic lymphohistiocytosis (HLH). However, patients frequently have significant pre-transplant morbidity and there is high transplant...

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis (2005)

  • Ataliotis,
  • P.,
  • Ivins,
  • S.,
  • Mohun,
  • T.J.,
  • ...

The development of pharyngeal arch derivatives in mouse and zebrafish embryos depends on the activity of the transcription factor Tbx1. We cloned the Xenopus laevis orthologue of Tbx1 (XTbx1) and...

Effect of steroidal and non-steroidal drugs on the microglia activation pattern and the course of degeneration in the retinal degeneration slow mouse (2005)

BACKGROUND: In hereditary retinal degeneration, microglia cells become activated, migrate through the outer nuclear layer (ONL) and accumulate in the subretinal space. Although this inflammatory...

Local and global limitations on direction integration assessed using equivalent noise analysis (2005)

We used an equivalent noise (EN) paradigm to examine how the human visual system pools local estimates of direction across space in order to encode global direction. Observers estimated the mean...

Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma (2005)

PURPOSE. Mutations in the myocilin ( MYOC) gene have been implicated in juvenile as well as late-onset primary open-angle glaucoma (POAG). Overall, MYOC mutations account for 3% to 5% of cases of...

Predominant rod photoreceptor degeneration in Leber congenital amaurosis (2005)

PURPOSE: An unusual retinal vascular morphology in an enucleated eye from a patient with Leber congenital amaurosis (LCA) has been associated with a mutation in AIPL1. The AIPL1 protein is expressed...

A population based survey of the prevalence and types of glaucoma in rural West Bengal: the West Bengal Glaucoma Study (2005)

  • Raychaudhuri,
  • A.,
  • Lahiri,
  • S.K.,
  • Bandyopadhyay,
  • M.,
  • ...

Aim: To determine (i) the prevalence of glaucoma in people aged >= 50 years, (ii) the proportions of different types of glaucoma, (iii) the distributions of intraocular pressure and vertical cup disc...

Optic disk ovality as an index of tilt and its relationship to myopia and perimetry (2005)

PURPOSE: To examine the association of optic disk ovality with myopic refractive error, axial length, and the visual field. DESIGN: Prospective observational case series. METHODS: The study included...

Acute zonal occult outer retinopathy: towards a set of diagnostic criteria (2005)

  • Francis,
  • P.J.,
  • Marinescu,
  • A.,
  • Fitzke,
  • F.W.,
  • ...

BACKGROUND: Individuals with acute zonal occult outer retinopathy (AZOOR) present with initially progressive scotomata and photopsia. Characteristically, the extent of the visual field defect is...

Long-term results of submacular surgery combined with macular translocation of the retinal pigment epithelium in neovascular age-related macular degeneration (2005)

PURPOSE: To provide long-term (> or =5 years) follow-up data on patients who had previously undergone macular retinal pigment epithelium (RPE) translocation surgery for choroidal new vessels (CNVs)...

An oblique effect for local motion: psychophysics and natural movie statistics (2005)

Human perception of visual motion is thought to involve two stages--estimation of local motion (i.e., of small features) and global motion (i.e., of larger objects)--identified with cortical areas V1...

Anterior chamber depth and the risk of primary angle closure in 2 East Asian populations (2005)

  • Aung,
  • T.,
  • Nolan,
  • W.P.,
  • Machin,
  • D.,
  • ...

Objective: To evaluate the risk of peripheral anterior synechiae (PAS) and glaucomatous optic neuropathy attributable to primary angle closure at varying anterior chamber depths (ACDs) in two East...

Critical band masking in optic flow (2005)

Visual processing has been widely investigated with narrow band stimuli at low contrasts. We used a masking paradigm to examine how visual sensitivity under these conditions compares with the...

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene (2005)

  • Addison,
  • P.K.,
  • Berry,
  • V.,
  • Ionides,
  • A.C.,
  • ...

BACKGROUND: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed...

Spatial interference among moving targets (2005)

Peripheral vision for static form is limited both by reduced spatial acuity and by interference among adjacent features ('crowding'). However, the visibility of acuity-corrected image motion is...

H reflexes of the serratus anterior muscle (2005)

  • Alexander,
  • C.M.,
  • Miley,
  • R.,
  • Stynes,
  • S.,
  • ...

Using CO2Emisions to treat waste materials. (2005)

  • Simons,
  • S.J.R.,
  • Scuzzarella,
  • A.,
  • Fernadez-Bertos,
  • M.,
  • ...

Paying attention to meaning. (2004)

  • Barnard,
  • P.J.,
  • Scott,
  • S.K.,
  • Taylor,
  • J.,
  • ...

Cadaver validation of the use of ultrasound for the instantiation of bony anatomy in image-guided orthopaedic surgery (2004)

We present cadaver validation of a method that uses tracked ultrasound to instantiate and register 3D statistical shape models (SSMs) of 3 femurs and 2 pelves. The SSMs were generated directly from...

Enteric neural crest-derived cells and neural stem cells: biology and therapeutic potential (2004)

The enteric nervous system arises from two regions of the neural crest; the vagal neural crest which gives rise to the vast majority of enteric neurones throughout the gastrointestinal tract, and the...

Evolving concepts in human renal dysplasia (2004)

Human renal dysplasia is a collection of disorders in which kidneys begin to form but then fail to differentiate into normal nephrons and collecting ducts. Dysplasia is the principal cause of...

Genetics of childhood cataract (2004)

PURPOSE OF REVIEW: Congenital cataracts, although much less common than their age-related counterparts, account for one-tenth of cases of childhood blindness. Approximately half are inherited, either...

Hepatic nervous system development (2004)

During embryonic development, the liver emerges from the foregut as a thickening of the ventral endodermal epithelium. The embryonic liver then develops into a bud of cells that proliferates and...

Programming of defective rat pancreatic beta-cell function in offspring from mothers fed a low-protein diet during gestation and the suckling periods (2004)

  • Heywood,
  • W.E.,
  • Mian,
  • N.,
  • Milla,
  • P.J.,
  • ...

Poor fetal and infant nutrition has been linked to impaired glucose tolerance in later life. We studied the effect of protein deficiency during gestation and the suckling period in a rat model and...

SJG-136 (NSC 694501), a novel rationally designed DNA minor groove interstrand cross-linking agent with potent and broad spectrum antitumor activity. Part 1: Cellular pharmacology, in vitro and initial in vivo antitumor activity (2004)

  • Hartley,
  • J.A.,
  • Spanswick,
  • V.J.,
  • Brooks,
  • N.,
  • ...

SJG-136 (NSC 694501) is a rationally designed pyrrolobenzodiazepine dimer that binds in the minor groove of DNA. It spans 6 bp with a preference for binding to purine- GATC-pyrimidine sequences. The...

Synovial sarcoma of the hard palate (2004)

Improved survival after unrelated donor bone marrow transplant in children with primary immunodeficiency using a reduced intensity conditioning regimen (2004)

  • Rao,
  • K.,
  • Amrolia,
  • P.J.,
  • Jones,
  • A.,
  • ...

The optimal approach to stem cell transplantation in children with immunodeficiency who lack a matched family donor is controversial. Unrelated donor stem cell transplant gives equivalent outcome to...

Prenatally diagnosed unilateral renal pelvic dilatation: A dynamic condition on ultrasound and diuretic renography (2004)

  • Ozcan,
  • Z.,
  • Anderson,
  • P.J.,
  • Gordon,
  • I.

Purpose: Imaging characteristics obtained from serial scintigraphic and ultrasonographic studies in children with the prenatal diagnosis of unilateral pelvic dilatation are presented. Materials and...

The problem of perceiving accurate depth information through a surgical augmented reality system (2003)

27/02/03 to 01/03/03, Interlaken, Switzerland

Selective depletion of donor allo-reactive T-cells without loss of anti-viral or anti-leukemic responses (2003)

  • Amrolia,
  • P.J.,
  • Muccioli-Casadei,
  • G.,
  • Yvon,
  • E.,
  • ...

Poor immune reconstitution after haplo-identical stem cell transplantation results in a high mortality from viral infections and relapse. One approach to overcome this problem is to selectively...

Generation of activated sialoadhesin-positive microglia during retinal degeneration (2003)

PURPOSE: The retina contains a rich network of myeloid-derived cells (microglia) within the retinal parenchyma and surrounding vessels. Their response and behavior during inflammation and...

Autologous apoptopic T cells interact with dendritic cells but do not affect their surface phenotype or their ability to induce recall immune responses (2003)

Dendritic cells (DCs) play an important role in determining immunogenicity and the subsequent immune response. They may also have a role in maintaining peripheral tolerance to self-antigens by...

Methylene blue and experimental gingivitis (2003)

  • Jackson,
  • R.J.,
  • Newman,
  • H.N.,
  • Strange,
  • J.,
  • ...

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Neck disease and distant metastases (2003)

  • Genden,
  • E.M.,
  • Ferlito,
  • A.,
  • Bradley,
  • P.J.,
  • ...

Registration and tracking to integrate X-ray and MR images in an XMR facility (2003)

We describe a registration and tracking technique to integrate cardiac X-ray images and cardiac magnetic resonance (MR) images acquired from a combined X-ray and MR interventional suite (XMR)....

Response to Martino and Cordonnier (2003)

  • Kibbler,
  • C.C.,
  • Mele,
  • A.,
  • Paterson,
  • P.J.,
  • ...

The shape and size of crowding for moving targets (2003)

Our ability to identify alphanumeric characters can be impaired by the presence of nearby features, especially when the target is presented in the peripheral visual field, a phenomenon is known as...

Allorestricted cytotoxic T cells specific for human CD45 show potent antileukemic activity (2003)

  • Amrolia,
  • P.J.,
  • Reid,
  • S.D.,
  • Gao,
  • L.,
  • ...

Recent advances have made haploidentical transplantation for leukemia feasible, but the rigorous T-cell depletion used contributes to the high relapse rates observed. We have attempted to improve the...

Bone marrow transplantation for beta-thalassaemia major: the UK experience in two paediatric centres (2003)

  • Lawson,
  • S.E.,
  • Roberts,
  • I.A.,
  • Amrolia,
  • P.,
  • ...

Stem cell transplantation (SCT) remains the only cure for thalassaemia major. Recent advances in medical treatment make it even more important that accurate information is available regarding outcome...

Bystander Transfer of Functional Human CD40 Ligand from Gene-Modified Fibroblasts to B-Chronic Lymphocytic Leukemia Cells (2003)

  • Biagi,
  • E.,
  • Yvon,
  • E.,
  • Dotti,
  • G.,
  • ...

CD40 ligand (CD40L) is a good candidate molecule for the immunotherapy of B cell malignancies including B-chronic lymphocytic leukemia (B-CLL), because it may increase the capacity of the malignant...

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy (2003)

  • Lemonde,
  • H.A.,
  • Custard,
  • E.J.,
  • Bouquet,
  • J.,
  • ...

BACKGROUND: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7alpha-hydroxy-3-oxo-4-cholenoic...

Synpolydactyly (2003)

Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma (2003)

  • Zhang,
  • Y.,
  • Leaves,
  • N.I.,
  • Anderson,
  • G.G.,
  • ...

Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis. Chromosome 13q14 shows consistent linkage to atopy and the total...

Employment (2003)

Fibroblasts isolated from normal lungs and those with idiopathic pulmonary fibrosis differ in interleukin-6/gp130-mediated cell signaling and proliferation (2003)

Interleukin (IL)-6 and IL-11 are elevated in a variety of lung conditions and may impact on repair mechanisms in chronic inflammatory disorders. However, the mechanisms by which these cytokines...

Inverse effects of interleukin-6 on apoptosis of fibroblasts from pulmonary fibrosis and normal lungs (2003)

Fibroblast apoptosis is crucial to the resolution of fibrosis. However, the mechanisms by which these cells undergo apoptosis are not well known. Because interleukin (IL)-6 and IL-11 may alter repair...

Psychosocial outcome (2003)

  • Thompson,
  • P.J.,
  • O'Toole,
  • A.

Skeletal growth and long-term bone turnover after enterocystoplasty in a chronic rat model (2003)

  • Gerharz,
  • E.W.,
  • Gasser,
  • J.A.,
  • Mosekilde,
  • L.,
  • ...

OBJECTIVE: To investigate skeletal growth and bone metabolism in a chronic animal model of urinary diversion. MATERIALS AND METHODS: Young male Wistar rats (120) were allocated randomly to four...

Effects of in utero bladder outflow obstruction on fetal sheep detrusor contractility, compliance and innervation (2002)

  • Nyirady,
  • P.,
  • Thiruchelvam,
  • N.,
  • Fry,
  • C.H.,
  • ...

PURPOSE: Congenital bladder outflow obstruction caused by posterior urethral valves is a common cause of end stage renal failure in boys. We hypothesized that fetal bladder outflow obstruction...

Characterization of oligopeptides that cross-react with carbohydrate- specific antibodies by real time kinetics, in-solution competition enzyme-linked immunosorbent assay, and immunological analyses (2002)

  • Brett,
  • P.J.,
  • Tiwana,
  • H.,
  • Feavers,
  • I.M.,
  • ...

Phage displaying random cyclic 7-mer, and linear 7-mer and 12-mer peptides at the N terminus of the coat protein, pIII, were panned with the murine monoclonal antibody, 9-2-L379 specific for...

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina (2002)

Leber congenital amaurosis (LCA) is the most severe inherited retinal dystrophy resulting in markedly impaired vision or blindness at birth. LCA is characterized by an extinguished electroretinogram...