Published in Pediatr Dermatol on November 28, 2013
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics (2014) 1.01
Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. J Invest Dermatol (2015) 0.80
Costello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment. Case Rep Pediatr (2015) 0.75
Genetics of inherited cardiocutaneous syndromes: a review. Open Heart (2016) 0.75
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model. BMC Med Genet (2015) 0.75
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. Am J Med Genet A (2017) 0.75
Propranolol for severe hemangiomas of infancy. N Engl J Med (2008) 11.32
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med (2015) 4.05
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Update on the medical treatment of metastatic renal cell carcinoma. Eur Urol (2008) 2.80
Propranolol for severe infantile hemangiomas: follow-up report. Pediatrics (2009) 2.76
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Antioxidant supplementation increases the risk of skin cancers in women but not in men. J Nutr (2007) 2.66
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med (2010) 2.47
Seroprevalence and risk factors of chikungunya virus infection in Mayotte, Indian Ocean, 2005-2006: a population-based survey. PLoS One (2008) 2.14
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. Arch Dermatol (2002) 2.03
Hyperkeratotic head and neck Malassezia dermatosis. Dermatology (2006) 1.93
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Prognostic value of thrombocytosis in renal cell carcinoma. J Urol (2006) 1.87
Post-epidemic Chikungunya disease on Reunion Island: course of rheumatic manifestations and associated factors over a 15-month period. PLoS Negl Trop Dis (2009) 1.87
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet (2012) 1.81
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
Efficacy and safety of tacrolimus ointment compared with that of hydrocortisone acetate ointment in children with atopic dermatitis. J Allergy Clin Immunol (2002) 1.71
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet (2010) 1.61
SACRAL syndrome: spinal dysraphism, anogenital, cutaneous, renal and urologic anomalies, associated with an angioma of lumbosacral localization. Dermatology (2007) 1.60
Identification of pro-MMP-7 as a serum marker for renal cell carcinoma by use of proteomic analysis. Clin Chem (2008) 1.60
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Interventions for vitiligo. Cochrane Database Syst Rev (2015) 1.57
The phenotype of Floating-Harbor syndrome in 10 patients. Am J Med Genet A (2010) 1.56
Skin colonization by Malassezia species in neonates: a prospective study and relationship with neonatal cephalic pustulosis. Arch Dermatol (2002) 1.55
Patient perspectives on the management of atopic dermatitis. J Allergy Clin Immunol (2006) 1.55
UVA-induced modification of catalase charge properties in the epidermis is correlated with the skin phototype. J Invest Dermatol (2006) 1.53
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Understanding the importance of smart drugs in renal cell carcinoma. Eur Urol (2006) 1.48
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation. Arch Dermatol (2011) 1.46
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Two patients with imported acute neuroschistosomiasis due to Schistosoma mansoni. J Travel Med (2010) 1.43
Low CAIX expression and absence of VHL gene mutation are associated with tumor aggressiveness and poor survival of clear cell renal cell carcinoma. Int J Cancer (2008) 1.43
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol (2002) 1.42
Psoriasiform eruptions during anti TNF-alpha treatment: psoriasis or not? Arch Dermatol (2007) 1.41
Topical therapy of atopic dermatitis: controversies from Hippocrates to topical immunomodulators. J Am Acad Dermatol (2007) 1.39
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood (2011) 1.37
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol (2007) 1.34
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
A critical appraisal of vitiligo etiologic theories. Is melanocyte loss a melanocytorrhagy? Pigment Cell Res (2003) 1.27
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26
Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet (2010) 1.25
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A (2006) 1.25
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A (2011) 1.24
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet (2009) 1.23
Factors associated with persistence of arthralgia among Chikungunya virus-infected travellers: report of 42 French cases. J Clin Virol (2009) 1.22
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A (2012) 1.21
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Genet (2008) 1.19
Destructive arthritis in a patient with chikungunya virus infection with persistent specific IgM antibodies. BMC Infect Dis (2009) 1.18
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet (2002) 1.17
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A (2008) 1.16
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol (2003) 1.16
Protective effects of catalase overexpression on UVB-induced apoptosis in normal human keratinocytes. J Biol Chem (2006) 1.16
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J Invest Dermatol (2010) 1.14
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. Hum Mol Genet (2010) 1.11
Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes (2003) 1.11
Quinine-resistant malaria in traveler returning from Senegal, 2007. Emerg Infect Dis (2010) 1.11
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet (2007) 1.11
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet (2007) 1.10
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet (2003) 1.10
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet (2011) 1.09
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat (2013) 1.09
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia (2011) 1.09
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol (2011) 1.09
Field evaluation of clinical features during chikungunya outbreak in Mayotte, 2005-2006. Trop Med Int Health (2010) 1.08
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. Arch Cardiovasc Dis (2010) 1.08