Published in Eur J Hum Genet on February 10, 2010
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord (2007) 1.56
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol (2006) 1.45
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet (2008) 1.43
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat (2006) 1.40
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet (2001) 1.26
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. Mol Vis (2006) 1.20
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. Clin Chem (2008) 1.19
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet A (2004) 1.14
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat (2002) 1.13
Hereditary prosopagnosia: the first case series. Cortex (2007) 1.10
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. Am J Hum Genet (2009) 1.09
Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. Circulation (2013) 1.09
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet (2007) 1.07
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J Pediatr (2002) 1.06
The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. Mol Genet Metab (2002) 1.05
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. Mol Genet Metab (2006) 1.05
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat (2002) 1.04
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet (2011) 1.04
Xanthinuria type I: a rare cause of urolithiasis. Pediatr Nephrol (2006) 1.03
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet (2012) 1.02
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am J Med Genet A (2004) 1.01
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol (2006) 1.00
Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis. Hum Mutat (2002) 0.98
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. Proc Natl Acad Sci U S A (2012) 0.98
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Mol Genet Metab (2005) 0.97
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J (2009) 0.96
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. Hum Mutat (2002) 0.95
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat (2005) 0.93
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat (2009) 0.92
Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study. J Thorac Cardiovasc Surg (2006) 0.91
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr (2003) 0.91
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet A (2005) 0.91
Unexpected island effects at an extreme: reduced Y chromosome and mitochondrial DNA diversity in Nias. Mol Biol Evol (2010) 0.91
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A (2005) 0.90
Diagnostic power of aortic elastic properties in young patients with Marfan syndrome. J Thorac Cardiovasc Surg (2005) 0.90
Deficits in long-term recognition memory reveal dissociated subtypes in congenital prosopagnosia. PLoS One (2011) 0.89
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012. Eur J Hum Genet (2012) 0.88
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur J Hum Genet (2010) 0.87
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. Am J Med Genet A (2008) 0.86
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Eur J Pediatr (2005) 0.85
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans. Gastroenterology (2003) 0.85
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab (2013) 0.85
Gaze behaviour in hereditary prosopagnosia. Psychol Res (2006) 0.83
Severe lymphatic microangiopathy in Fabry disease. Lymphat Res Biol (2003) 0.83
The early time course of compensatory face processing in congenital prosopagnosia. PLoS One (2010) 0.81
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. Hum Genet (2009) 0.80
Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. Mol Genet Metab (2002) 0.79
Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? Eur J Hum Genet (2005) 0.79
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum Genet (2015) 0.79
Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome). Acta Paediatr (2011) 0.78
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. Pediatr Pathol Mol Med (2003) 0.78
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. Eur J Pediatr (2013) 0.78
Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses. NMR Biomed (2003) 0.77
Nailfold capillaroscopy: Specific features in Fabry disease. Clin Hemorheol Microcirc (2009) 0.77
Sorting chromosomes as a software-based exercise. Med Educ (2010) 0.76
Multicolor karyotyping in acute myeloid leukemia. Leuk Lymphoma (2003) 0.76
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. Mol Genet Metab (2011) 0.76
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? Iran J Pediatr (2010) 0.75
Galactose uncovers face recognition and mental images in congenital prosopagnosia: the first case report. Nutr Neurosci (2013) 0.75
A computational model of dysfunctional facial encoding in congenital prosopagnosia. Neural Netw (2011) 0.75
Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders. Pediatr Endocrinol Rev (2004) 0.75
A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. J Biomed Inform (2005) 0.75
Novel der(1)t(1;19) in two patients with myeloid neoplasias. Cancer Genet Cytogenet (2002) 0.75
Non-invasive diagnosis of lung tuberculosis in children by single voxel ¹H-magnetic resonance spectroscopy. Eur J Pediatr (2012) 0.75
The boy with massive glucosuria. Nephrol Dial Transplant (2004) 0.75
Mass spectrometric analysis of human transferrin in different body fluids. Clin Chem Lab Med (2003) 0.75
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. Hum Genet (2008) 0.75