Published in J Med Genet on August 05, 2005
Lessons on the pathogenesis of aneurysm from heritable conditions. Nature (2011) 2.97
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet (2006) 1.99
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet (2009) 1.34
Elastin in large artery stiffness and hypertension. J Cardiovasc Transl Res (2012) 1.21
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta (2009) 1.10
Molecular genetics of congenital diaphragmatic defects. Ann Med (2007) 1.05
Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model. Circ Res (2010) 1.02
Mechanisms of emphysema in autosomal dominant cutis laxa. Matrix Biol (2010) 0.99
Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol (2013) 0.94
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat (2012) 0.93
Diameters of normal thoracic vascular structures in pediatric patients. Surg Radiol Anat (2009) 0.90
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet J Rare Dis (2013) 0.90
Extracellular matrix and the mechanics of large artery development. Biomech Model Mechanobiol (2012) 0.84
The genetic basis of aortic aneurysm. Cold Spring Harb Perspect Med (2014) 0.82
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem (2012) 0.81
Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure. Can J Cardiol (2015) 0.79
Modification and functional inactivation of the tropoelastin carboxy-terminal domain in cross-linked elastin. Matrix Biol (2008) 0.78
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol (2011) 0.77
Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation (2016) 0.77
Biomechanical properties of the skin in cutis laxa. J Invest Dermatol (2014) 0.77
A novel elastin gene mutation in a Vietnamese patient with cutis laxa. Pediatr Dermatol (2014) 0.75
Cutis Laxa syndrome: a case report. Pan Afr Med J (2015) 0.75
Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol (1989) 4.27
Isolation of genomic DNA. Methods Enzymol (1987) 2.74
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res (2001) 2.22
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol (2005) 1.82
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem (1999) 1.79
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet (1998) 1.75
The dominant and recessive forms of cutis laxa. J Med Genet (1972) 1.48
Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11. Am J Hum Genet (2001) 1.43
Two-dimensional echocardiographic determination of aortic and pulmonary artery sizes from infancy to adulthood in normal subjects. Am J Cardiol (1984) 1.34
A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol (2004) 1.29
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet (1999) 1.13
Echocardiographic reference values for aortic root size: the Framingham Heart Study. J Am Soc Echocardiogr (1996) 1.07
Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage. Stroke (2004) 0.93
PRINTS and its automatic supplement, prePRINTS. Nucleic Acids Res (2003) 10.01
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science (1990) 8.91
Positron emission tomographic evidence of toxic effect of MDMA ("Ecstasy") on brain serotonin neurons in human beings. Lancet (1998) 5.85
PRINTS and PRINTS-S shed light on protein ancestry. Nucleic Acids Res (2002) 4.75
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet (2000) 3.07
Assessing adequacy of collateral circulation during balloon test occlusion of the internal carotid artery with 99mTc-HMPAO SPECT. AJNR Am J Neuroradiol (1992) 2.30
Column-switching HPLC for the analysis of plasma in PET imaging studies. Nucl Med Biol (2000) 2.29
cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics (1991) 2.03
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet (2007) 1.76
A quantitative evaluation of SAGE. Genome Res (2000) 1.57
Mapping the distribution of amobarbital sodium in the intracarotid Wada test by use of Tc-99m HMPAO with SPECT. Radiology (1991) 1.41
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics (1999) 1.24
Modification of distinct aspects of photomorphogenesis via targeted expression of mammalian biliverdin reductase in transgenic Arabidopsis plants. Plant Physiol (1999) 1.23
Regulation of photomorphogenesis by expression of mammalian biliverdin reductase in transgenic Arabidopsis plants. Plant Cell (1997) 1.23
Sequence variation in mitochondrial complex I genes: mutation or polymorphism? J Med Genet (2005) 1.20
Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet (1987) 1.20
A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet (1990) 1.14
Origin of scalp vertex aplasia cutis. J Pediatr (1982) 1.13
The anatomy of de Quervain's disease. A study of operative findings. Int Orthop (1995) 1.11
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet (1995) 1.10
Troublesome and disruptive behaviors in dementia. Relationships to diagnosis and disease severity. J Am Geriatr Soc (1988) 1.09
Macrocephaly in association with unusual cutaneous angiomatosis. J Pediatr (1975) 1.04
The value of a baseline bone scan in patients with newly diagnosed prostate cancer. Clin Nucl Med (1999) 1.04
Severe skin erosions and scalp infections in AEC syndrome. Pediatr Dermatol (1993) 1.02
In vivo detection of short- and long-term MDMA neurotoxicity--a positron emission tomography study in the living baboon brain. Synapse (1998) 1.01
The influence of biological and technical factors on the variability of global and regional brain metabolism of 2-[18F]fluoro-2-deoxy-D-glucose. J Cereb Blood Flow Metab (1992) 0.95
Arteriohepatic dysplasia: phenotypic features and family studies. Clin Genet (1984) 0.94
Training for minimally invasive surgery. Need for surgical skills. Surg Endosc (1993) 0.93
Limb reduction anomalies and early in utero limb compression. J Pediatr (1980) 0.92
Endoscopic creation and repair of fetal cleft lip. Plast Reconstr Surg (1992) 0.91
Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation. J Med Genet (1999) 0.88
Enhanced uptake of [11C]TPMP in canine brain tumor: a PET study. J Nucl Med (1999) 0.87
Toxicodynamics and long-term toxicity of the recreational drug, 3, 4-methylenedioxymethamphetamine (MDMA, 'Ecstasy'). Toxicol Lett (2000) 0.87
Circadian regulation of prion protein messenger RNA in the rat forebrain: a widespread and synchronous rhythm. Neuroscience (1999) 0.87
Percutaneous fetal access and uterine closure for fetoscopic surgery. Lessons learned from 16 consecutive procedures in pregnant sheep. Surg Endosc (1997) 0.86
The effects of gonadal steroids on brain stimulation reward in female rats. Behav Brain Res (1997) 0.85
Biliverdin reductase-induced phytochrome chromophore deficiency in transgenic tobacco. Plant Physiol (2001) 0.85
Fetal endoscopic ('Fetendo') tracheal clip. J Pediatr Surg (1996) 0.85
Magnetic resonance image analysis by information theoretic criteria and stochastic site models. IEEE Trans Inf Technol Biomed (2001) 0.84
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. Am J Med Genet (1998) 0.84
Myocardial perfusion with [11C]methyl triphenyl phosphonium: measurements of the extraction fraction and myocardial uptake. J Nucl Biol Med (1994) 0.84
Congenic strains displaying similar clinical phenotype of arthritis represent different immunologic models of inflammation. Genes Immun (2008) 0.83
Neutropenia management and granulocyte colony-stimulating factor use in patients with solid tumours receiving myelotoxic chemotherapy--findings from clinical practice. Support Care Cancer (2013) 0.83
Menetrier's disease associated with cytomegalovirus infection in children: report of two cases and review of the literature. Pediatr Infect Dis J (1993) 0.83
Membrane-permeabilizing activities of cyclic lipodepsipeptides, syringopeptin 22A and syringomycin E from Pseudomonas syringae pv. syringae in human red blood cells and in bilayer lipid membranes. Bioelectrochemistry (2000) 0.83
Decreased bone density and treatment in patients with autosomal recessive cutis laxa. Acta Paediatr (2008) 0.82
In vivo labeling of angiotensin II receptors with a carbon-11-labeled selective nonpeptide antagonist. J Nucl Med (1996) 0.82
The Caretaker Obstreperous-Behavior Rating Assessment (COBRA) Scale. J Am Geriatr Soc (1992) 0.81
Localization of CYP2F1 by multipoint linkage analysis and pulsed-field gel electrophoresis. Genomics (1991) 0.81
Are electrocardiographic Q-wave criteria reliable for diagnosis of perioperative myocardial infarction after coronary surgery? Eur J Cardiothorac Surg (1998) 0.81
Chromosome 13 long arm interstitial deletion associated with features of Noonan phenotype. Ann Genet (1987) 0.81
Aneurysms after microvascular anastomoses. Incidence and pathogenesis in experimental animals. Plast Reconstr Surg (1979) 0.81
Intratympanic gentamicin for unilateral Meniere's disease: results of therapy. Clin Otolaryngol Allied Sci (2003) 0.80
Coordinate regulation of canine glomeruli and adrenal angiotensin receptors by dietary sodium manipulation. Kidney Int (2001) 0.80
Fetoscopic and open transumbilical fetal cardiac catheterization in sheep. Potential approaches for human fetal cardiac intervention. Circulation (1997) 0.80
Epidermolysis bullosa--review and report of case. J Am Dent Assoc (1983) 0.80
N-terminal sequences contained in the Src homology 2 and 3 domains of p120 GTPase-activating protein are required for full catalytic activity toward Ras. J Biol Chem (1996) 0.80
Learned helplessness in Drosophila melanogaster? Psychol Rep (1996) 0.80
Winner of the ESVS Prize 1988. Effects of prostaglandin E1 (PGE1) on experimental renal ischaemia. Eur J Vasc Surg (1989) 0.79
Radioligands for the study of the 5-HT transporter in vivo. IDrugs (1999) 0.79
In vivo labeling of endothelin receptors with [(11)C]L-753,037: studies in mice and a dog. J Nucl Med (2001) 0.79
Percutaneous access to the uterus for fetal surgery. J Laparoendosc Surg (1996) 0.79
Effects of the NMDA antagonists CPP and MK-801 on delayed conditional discrimination. Psychopharmacology (Berl) (1989) 0.79
Altered bladder function in transgenic mice expressing rat elastin. Neurourol Urodyn (1999) 0.78
Fenfluramine-induced loss of serotonin transporters in baboon brain visualized with PET. Synapse (1996) 0.78
Techniques for in utero endoscopic surgery. A new approach for fetal intervention. Surg Endosc (1993) 0.78
Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK). Placenta (2005) 0.78
Alzheimer's dementia produces a loss of discrimination but no increase in rate of memory decay in delayed matching to sample. Neuropsychologia (1992) 0.77
Transvaginal extraction of the laparoscopically removed spleen. Surg Endosc (2002) 0.77
Gallbladder ejection fraction. Nondiagnostic for sphincter of Oddi dysfunction in patients with intact gallbladders. Clin Nucl Med (1994) 0.77
Effects of Plasmodium berghei infection on cytochromes P-450 2E1 and 3A2. Eur J Drug Metab Pharmacokinet (1999) 0.76
Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn. Fetal Diagn Ther (2001) 0.76
Can mechanical valve prostheses be recommended in the tricuspid position? J Heart Valve Dis (1996) 0.75
Global and regional cerebral metabolic rate of 2-[18F]fluoro-2-deoxy-D-glucose in the presence of ofloxacin, a gamma-aminobutyric acid a receptor antagonist. Antimicrob Agents Chemother (1991) 0.75
Diagnostic and functional implications of pelvocalyceal system nonvisualization on [99m]Tc-DTPA renal images. Am J Physiol Imaging (1990) 0.75
Septo-optic dysplasia with digital anomalies. J Pediatr (1984) 0.75
Changes in sample collection and analytical techniques and effects on retrospective comparability of low-level concentrations of trace elements in ground water. Water Res (2001) 0.75
[Nuclear medicine prediction of histologic tumor response of osteosarcoma]. Klin Padiatr (1989) 0.75
Direct inlay restorations: utilization of sonic preparation technology in conjunction with ceramic inserts. Pract Periodontics Aesthet Dent (1999) 0.75
Adverse outcomes following endoscopic repair of a fetal cleft lip using an ovine model. Cleft Palate Craniofac J (1998) 0.75
Defensive burying: effects of diazepam and oxprenolol measured in extinction. Life Sci (1983) 0.75
Estimating renal function from the visual analysis of Tc-99m DTPA images. Clin Nucl Med (1993) 0.75
[Technical note: ulnar "pseudo-pollicisation" in congenital hand differences]. Chir Main (2004) 0.75
Autosomal recessive form of mandibular dysostosis. Am J Med Genet (1990) 0.75
Effect of tracer metabolism on PET measurement of [11C]pyrilamine binding to histamine H1 receptors. Ann Nucl Med (1999) 0.75
Experimental fetal transesophageal and intracardiac echocardiography utilizing intravascular ultrasound technology. Am J Cardiol (1996) 0.75
Rhabdomyosarcoma of the orbit in a survivor of rhabdomyosarcoma of the kidney. Arch Ophthalmol (1969) 0.75
Transesophageal echocardiography in fetal sheep. A monitoring tool for open and fetoscopic cardiac procedures. Surg Endosc (1996) 0.75
Enlarged pupillary membranes. J Pediatr Ophthalmol Strabismus (1988) 0.75
"Me? I'm not a drooler. I'm the assistant": is it time to abandon mental retardation as a classification? Ment Retard (2001) 0.75
Effects of Plasmodium berghei infection on arteether metabolism and disposition. Pharmacology (1997) 0.75
Nano-structured support materials, their characterisation and serum protein profiling through MALDI/TOF-MS. Amino Acids (2007) 0.75
Hippocampal T(2) abnormalities correlate with antecedent events and help predict seizure intractability. Dev Neurosci (1999) 0.75
[The role of pharmacologic kidney protection in preventing post-ischemic renal failure in animal experiment]. Zentralbl Chir (1993) 0.75
[Early differential diagnosis of postoperative acute kidney insufficiency following extracorporeal bypass]. Thoraxchir Vask Chir (1967) 0.75
Genetic diversity and relationships in native Hawaiian Saccharum officinarum sugarcane. J Hered (2004) 0.75
Sacrifices for the miracle: the polio vaccine research and children with mental retardation. Ment Retard (2001) 0.75
An emerging antiarrhythmic target: late sodium current. Curr Pharm Des (2015) 0.75
[The ulnar longitudinal deficiency: proposition of a descriptive classification]. Chir Main (2004) 0.75