Published in Eur J Dermatol on January 14, 2004
Fibulin-5 binds human smooth-muscle cells through alpha5beta1 and alpha4beta1 integrins, but does not support receptor activation. Biochem J (2007) 1.21
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet (2009) 1.17
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat (2012) 0.93
Cutis laxa presenting as recurrent ileus. Gastroenterol Rep (Oxf) (2014) 0.75
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med (2008) 7.31
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006) 2.94
Circulating transforming growth factor-beta in Marfan syndrome. Circulation (2009) 2.69
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med (2010) 2.47
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet (2002) 1.96
Evidence for an autoimmune pathogenesis of vitiligo. Pigment Cell Res (2003) 1.90
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet (2012) 1.81
Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol (2008) 1.77
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci (2004) 1.69
Human squamous cell carcinomas evade the immune response by down-regulation of vascular E-selectin and recruitment of regulatory T cells. J Exp Med (2008) 1.67
Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis. J Natl Cancer Inst (2010) 1.65
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A (2007) 1.54
The quest for the mechanism of melanin transfer. Traffic (2006) 1.53
Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet (2005) 1.50
In vivo vitiligo induction and therapy model: double-blind, randomized clinical trial. Pigment Cell Melanoma Res (2011) 1.50
Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney Int (2004) 1.46
The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol (2010) 1.44
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41
Rab7 and Rab27a control two motor protein activities involved in melanosomal transport. Pigment Cell Res (2006) 1.39
Acute generalized exanthematous pustulosis: an overview of the clinical, immunological and diagnostic concepts. Eur J Dermatol (2010) 1.36
EGFR in melanoma: clinical significance and potential therapeutic target. J Cutan Pathol (2011) 1.32
The importance of socio-economic status and individual characteristics on the prevalence of head lice in schoolchildren. Eur J Dermatol (2005) 1.32
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet (2009) 1.29
Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res (2009) 1.27
Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet (2010) 1.25
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. J Invest Dermatol (2006) 1.22
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat (2008) 1.20
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation (2008) 1.18
Inter-observer variation in the histopathological diagnosis of clinically suspicious pigmented skin lesions. J Pathol (2002) 1.17
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J Invest Dermatol (2010) 1.14
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat (2005) 1.11
Origin, clinical presentation, and diagnosis of hypomelanotic skin disorders. Dermatol Clin (2007) 1.10
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. Eur J Hum Genet (2010) 1.08
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. Eur J Hum Genet (2011) 1.08
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. J Invest Dermatol (2011) 1.08
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. Pigment Cell Res (2004) 1.08
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet (2013) 1.08
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet (2011) 1.07
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. Hum Mutat (2011) 1.05
The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers. Int J Cardiol (2011) 1.04
PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat (2009) 1.02
Pigment cell-related manifestations in neurofibromatosis type 1: an overview. Pigment Cell Res (2005) 1.01
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat (2009) 1.00
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. J Biol Chem (2003) 1.00
Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain. J Invest Dermatol (2003) 0.98
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. Eur J Hum Genet (2011) 0.98
Management of vitiligo patients and attitude of dermatologists towards vitiligo. Eur J Dermatol (2004) 0.97
First histopathological and immunophenotypic analysis of early dynamic events in a patient with segmental vitiligo associated with halo nevi. Pigment Cell Melanoma Res (2010) 0.96
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol (2007) 0.96
miR-145 overexpression suppresses the migration and invasion of metastatic melanoma cells. Int J Oncol (2013) 0.95
A case of anaphylaxis caused by macrogol 3350 after injection of a corticosteroid. Contact Dermatitis (2012) 0.95
The role of RhoC in growth and metastatic capacity of melanoma. J Cutan Pathol (2009) 0.95
Replacing vascular corrosion casting by in vivo micro-CT imaging for building 3D cardiovascular models in mice. Mol Imaging Biol (2011) 0.95
Indoleamine 2,3-dioxygenase, a new prognostic marker in sentinel lymph nodes of melanoma patients. Eur J Cancer (2011) 0.93
Loeys-Dietz syndrome. Adv Exp Med Biol (2014) 0.93
Knockdown of myosin Va isoforms by RNAi as a tool to block melanosome transport in primary human melanocytes. J Invest Dermatol (2008) 0.92
A new digital image analysis system useful for surface assessment of vitiligo lesions in transplantation studies. Eur J Dermatol (2004) 0.92
Lipid-mediated gene delivery to the skin. Eur J Pharm Sci (2011) 0.92
Unusual 8p inverted duplication deletion with telomere capture from 8q. Eur J Med Genet (2008) 0.91
The role of VEGF-C staining in predicting regional metastasis in melanoma. Virchows Arch (2008) 0.91
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Arch Dermatol Res (2006) 0.90
Use of calcipotriene cream (Dovonex cream) following acute treatment of psoriasis vulgaris with the calcipotriene/betamethasone dipropionate two-compound product (Taclonex): a randomized, parallel-group clinical trial. Am J Clin Dermatol (2006) 0.89
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Hum Mutat (2009) 0.88
The influence of aortic dimensions on calculated wall shear stress in the mouse aortic arch. Comput Methods Biomech Biomed Engin (2009) 0.87
An integrated framework to quantitatively link mouse-specific hemodynamics to aneurysm formation in angiotensin II-infused ApoE -/- mice. Ann Biomed Eng (2011) 0.87
The biology of hyperpigmentation syndromes. Pigment Cell Melanoma Res (2014) 0.87
Different approaches for assaying melanosome transfer. Pigment Cell Res (2005) 0.86
Topical pimecrolimus in the treatment of vitiligo. Eur J Dermatol (2007) 0.86
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. Am J Med Genet A (2007) 0.85
Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. J Med Genet (2010) 0.85
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat (2015) 0.85
Current and emerging therapy for the management of vitiligo. Clin Cosmet Investig Dermatol (2009) 0.84
Melanocyte-specific immune response in a patient with multiple regressing nevi and a history of melanoma. Anticancer Res (2011) 0.83
Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men. J Bone Miner Res (2005) 0.83
Transdermal penetration behaviour of drugs: CART-clustering, QSPR and selection of model compounds. Bioorg Med Chem (2007) 0.83
A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genet Med (2006) 0.82
ZEB2-transgene expression in the epidermis compromises the integrity of the epidermal barrier through the repression of different tight junction proteins. Cell Mol Life Sci (2014) 0.82
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. Int J Pediatr Otorhinolaryngol (2007) 0.82
Efficacy of products to remove eggs of Pediculus humanus capitis (Phthiraptera: Pediculidae) from the human hair. J Med Entomol (2014) 0.82
Aortic dissection in a young man with Loeys-Dietz syndrome. J Thorac Cardiovasc Surg (2008) 0.81
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. Eur J Pediatr (2013) 0.81
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet (2010) 0.80
The impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data. J Biomech Eng (2011) 0.80
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. J Med Genet (2013) 0.80
Juvenile psoriasis and its clinical management: a European expert group consensus. J Dtsch Dermatol Ges (2010) 0.80