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Mcgrath, John
One or more keywords matched the following items that are connected to Mcgrath, John
Item TypeName
Concept Genital Diseases, Male
Concept Male
Academic Article Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Academic Article Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Academic Article The molecular skin pathology of familial primary localized cutaneous amyloidosis.
Academic Article Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Academic Article Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Academic Article Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Academic Article Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
Academic Article Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1.
Academic Article Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.
Academic Article Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
Academic Article Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Academic Article Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Academic Article Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
Academic Article Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
Academic Article Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
Academic Article Neonatal diagnosis of Kindler syndrome.
Academic Article Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus.
Academic Article Bone metabolism in children with epidermolysis bullosa.
Academic Article Associations between early development and outcome in schizophrenia--A 35-year follow-up of the Northern Finland 1966 Birth Cohort.
Academic Article Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Academic Article Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
Academic Article Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Academic Article Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
Academic Article Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
Academic Article Maternal age and paternal age are associated with distinct childhood behavioural outcomes in a general population birth cohort.
Academic Article Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
Academic Article Advancing parental age and autism: multifactorial pathways.
Academic Article The association between general psychological distress and delusional-like experiences: a large population-based study.
Academic Article Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
Academic Article Is adermatoglyphia an additional feature of Kindler Syndrome?
Academic Article Time Series Integrative Analysis of RNA Sequencing?and MicroRNA Expression Data Reveals?Key Biologic Wound Healing Pathways?in?Keloid-Prone Individuals.
Academic Article Autism risk across generations: a population-based study of advancing grandpaternal and paternal age.
Academic Article Psychotic experiences and general medical conditions: a cross-national analysis based on 28 002 respondents from 16 countries in the WHO World Mental Health Surveys.
Academic Article Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.
Academic Article Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.
Academic Article [2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families].
Academic Article Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa.
Academic Article Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a?Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
Academic Article Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.
Academic Article The association between neonatal vitamin D status and risk of schizophrenia.
Academic Article Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis.
Academic Article A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
Academic Article Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Academic Article Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa.
Academic Article Profilaggrin, dry skin, and atopic dermatitis risk: size matters.
Academic Article Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.
Academic Article Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.
Academic Article Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Academic Article Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.
Academic Article Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood.
Academic Article Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Academic Article lillies: An R package for the estimation of excess Life Years Lost among patients with a given disease or condition.
Academic Article Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Academic Article Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.
Academic Article Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Academic Article Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
Academic Article Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Academic Article Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
Academic Article Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.
Academic Article Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
Academic Article Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
Academic Article Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
Academic Article Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
Academic Article Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
Academic Article Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.
Academic Article Caveolin-1 Controls Hyperresponsiveness to Mechanical Stimuli and Fibrogenesis-Associated RUNX2 Activation?in Keloid Fibroblasts.
Academic Article Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
Academic Article Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis.
Academic Article New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Academic Article Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa?Simplex.
Academic Article Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
Academic Article Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa.
Academic Article Images in clinical medicine. Tinea.
Academic Article Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
Academic Article Questioning the Clinical Utility of Exome Sequencing in Developing Countries.
Academic Article Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome.
Academic Article Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Academic Article Cohort Profile Update: The Mater-University of Queensland Study of Pregnancy (MUSP).
Academic Article The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
Academic Article Psychotic Experiences in the General Population: A Cross-National Analysis Based on 31,261 Respondents From 18 Countries.
Academic Article An essential role for the Zn2+ transporter ZIP7 in B cell development.
Academic Article A comprehensive analysis of mortality-related health metrics associated with mental disorders: a nationwide, register-based cohort study.
Academic Article Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Academic Article Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Academic Article Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Academic Article Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Academic Article Acute recovery of patellar tendon from heat-induced shrinkage and its inhibition by cross-linking.
Academic Article Revertant mosaicism in Kindler syndrome.
Academic Article Cause-specific life years lost among persons diagnosed with schizophrenia: Is it getting better or worse?
Academic Article Association of Childhood Exposure to Nitrogen Dioxide and Polygenic Risk Score for Schizophrenia With the Risk of Developing Schizophrenia.
Academic Article The antecedents of schizophrenia: a review of birth cohort studies.
Academic Article Novel TGM5 mutations in acral peeling skin syndrome.
Academic Article Intra-familial variability of ectodermal defects associated with WNT10A mutations.
Academic Article The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
Academic Article Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
Academic Article Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
Academic Article Androgen-regulated transcription of ESRP2 drives alternative splicing patterns in prostate cancer.
Academic Article Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
Academic Article A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa.
Academic Article Mortality in individuals with disruptive behavior disorders diagnosed by specialist services - A nationwide cohort study.
Academic Article WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
Academic Article Kindler syndrome: a new mutation and new diagnostic possibilities.
Academic Article A comprehensive assessment of parental age and psychiatric disorders.
Academic Article Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.
Academic Article Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.
Academic Article Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration.
Academic Article Common mental disorders and recent physical activity status: findings from a National Community Survey.
Academic Article Transcriptomic Analysis of Blaschko-Linear Psoriasis Reveals Shared and Distinct Features with Psoriasis Vulgaris.
Academic Article The associations between psychotic experiences and substance use and substance use disorders: findings from the World Health Organization World Mental Health surveys.
Academic Article The association between delusional-like experiences and suicidal thoughts and behaviour.
Academic Article The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Academic Article Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies.
Academic Article EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.
Academic Article Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Academic Article Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).
Academic Article Growth in young adults who screen positive for non-affective psychosis: birth cohort study.
Academic Article Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Academic Article Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article Detection of SNP-SNP interactions in trios of parents with schizophrenic children.
Academic Article Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
Academic Article Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.
Academic Article Shared Genetic Risk Variants in Both Male and Female Frontal Fibrosing Alopecia.
Academic Article Profibrotic Subsets of SPP1+ Macrophages and POSTN+ Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis.
Academic Article Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa.
Academic Article Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB).
Academic Article Improving the understanding of the link between cognition and functional capacity in schizophrenia and bipolar disorder.
Academic Article Late diagnosis of ectodermal dysplasia syndrome.
Academic Article A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Academic Article Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
Academic Article Preoperative liver shrinking diet for bariatric surgery may impact wound healing: a randomized controlled trial.
Academic Article Familial primary localized cutaneous amyloidosis in Brazil.
Academic Article Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies.
Academic Article A comprehensive analysis of age of onset and cumulative incidence of mental disorders: A Danish register study.
Academic Article The association between physical health and delusional-like experiences: a general population study.
Academic Article Service use for mental health problems in people with delusional-like experiences: a nationwide population based survey.
Academic Article Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
Academic Article Molecular basis of lipoid proteinosis in two Indian siblings.
Academic Article Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
Academic Article Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Academic Article Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas.
Academic Article EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.
Academic Article Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
Academic Article Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin.
Academic Article A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.
Academic Article The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.
Academic Article Molecular basis of lipoid proteinosis in a Libyan family.
Academic Article Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.
Academic Article The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
Academic Article Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
Academic Article Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
Academic Article Detailed hair shaft analysis in a man with delayed-onset Chediak-Higashi syndrome.
Academic Article Immunogold electron microscopy using skin in Michel's medium intended for immunofluorescence analysis.
Academic Article Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.
Academic Article Mutations in EXPH5 result in autosomal recessive inherited skin fragility.
Academic Article Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma.
Academic Article New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.
Academic Article A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
Academic Article Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.
Academic Article Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14.
Academic Article A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.
Academic Article Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
Academic Article Clinical features and WNT10A mutations in seven unrelated cases of Sch?pf-Schulz-Passarge syndrome.
Academic Article A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Academic Article Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype.
Academic Article Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study.
Academic Article Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma).
Academic Article Pedestrian-motor vehicle trauma: an analysis of injury profiles by age.
Academic Article A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia.
Academic Article Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.
Academic Article Serum sickness-like illness following streptokinase therapy. A case report.
Academic Article LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.
Academic Article Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG.
Academic Article An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.
Academic Article Clinical characteristics of male frontal fibrosing alopecia: a single-centre case series from London, UK.
Academic Article A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.
Academic Article Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.
Academic Article Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.
Academic Article MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.
Academic Article Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
Academic Article The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa.
Academic Article Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5.
Academic Article Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.
Academic Article Alopecia universalis associated with a mutation in the human hairless gene.
Academic Article Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
Academic Article Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities.
Academic Article Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.
Academic Article The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
Academic Article WNT10A, dermatology and dentistry.
Academic Article Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
Academic Article Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
Academic Article Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.
Academic Article The molecular basis of dystrophic epidermolysis bullosa in Mexico.
Academic Article A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
Academic Article Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
Academic Article Psoriasis bullosa acquisita.
Academic Article A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.
Academic Article Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.
Academic Article Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.
Academic Article Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.
Academic Article Unusual molecular findings in Kindler syndrome.
Academic Article Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases.
Academic Article Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.
Academic Article Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Academic Article Late-onset pretibial recessive dystrophic epidermolysis bullosa.
Academic Article Molecular basis and inheritance patterns of amyloidosis cutis dyschromica.
Academic Article Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.
Academic Article A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.
Academic Article A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
Academic Article Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
Academic Article Extracellular matrix protein 1 autoantibodies in male genital lichen sclerosus.
Academic Article Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
Academic Article Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Academic Article Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
Academic Article Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.
Academic Article Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.
Academic Article Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.
Academic Article Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
Academic Article Incontinentia pigmenti in a father and daughter.
Academic Article Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.
Academic Article Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
Academic Article Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
Academic Article Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Academic Article Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.
Academic Article Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
Academic Article Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa.
Academic Article Fibrillin immunoreactivity is associated with normal or fragmented elastic microfibrils at the dermal-epidermal junction in recessive dystrophic epidermolysis bullosa.
Academic Article ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.
Academic Article The phenotypic heterogenicity of bullous ichthyosis--a case report of three family members.
Academic Article Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
Academic Article A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis.
Academic Article Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Academic Article Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.
Academic Article Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa.
Academic Article Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts.
Academic Article A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
Academic Article Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome.
Academic Article Infantile acquired zinc deficiency resembling acrodermatitis enteropathica.
Academic Article Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
Academic Article Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.
Academic Article Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Academic Article A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.
Academic Article Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.
Academic Article Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review.
Academic Article Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
Academic Article Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
Academic Article Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
Academic Article New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
Academic Article Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.
Academic Article Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa.
Academic Article Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
Academic Article Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3.
Academic Article Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
Academic Article Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
Academic Article Transient bullous dermolysis of the newborn in three generations.
Academic Article E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
Academic Article The role of fibroblasts in tissue engineering and regeneration.
Academic Article Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
Academic Article Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
Academic Article Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
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