Published in Pediatr Dermatol on August 19, 2009
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis (2011) 0.81
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet (2007) 2.75
Vulvovaginal candidiasis as a chronic disease: diagnostic criteria and definition. J Low Genit Tract Dis (2014) 2.01
LOH-pitfalls of an ambiguous abbreviation. Aging Male (2008) 2.01
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene. J Am Acad Dermatol (2003) 1.80
Naevus lentiginosus linearis: A distinct skin disorder. Acta Derm Venereol (2010) 1.80
Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers. PLoS One (2007) 1.68
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Pronounced linear calcinosis in a boy with mild dermatomyositis. A further possible example of superimposed segmental manifestation of a polygenic disorder. Dermatology (2009) 1.49
Management of vulvovaginal lichen planus: a new approach. J Low Genit Tract Dis (2013) 1.45
Familial cutis tricolor: a possible example of paradominant inheritance. Eur J Dermatol (2003) 1.44
Phacomatosis pigmentovasculosebacea: an unusual case of phacomatosis multiplex. Eur J Dermatol (2003) 1.39
Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family. Hum Genet (2008) 1.16
Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression. Dev Growth Differ (2007) 1.16
Phacomatosis melanorosea with heterochromia of scalp hair. Eur J Dermatol (2011) 1.13
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet (2009) 1.09
Monozygotic twins discordant for Proteus syndrome. Am J Med Genet A (2008) 1.09
Extensive speckled lentiginous nevus associated with giant congenital melanocytic nevus: an unusual example of twin spotting? Eur J Dermatol (2004) 1.08
Sturge-Weber-Klippel-Trenaunay syndrome: what's in a name? Eur J Dermatol (2003) 1.07
Segmental lesions are not always agminated. Arch Dermatol (2002) 1.02
PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat (2009) 1.02
Inverse Klippel-Trenaunay syndrome: review of cases showing deficient growth. Dermatology (2007) 1.01
Alopecia areata: treatment of today and tomorrow. J Investig Dermatol Symp Proc (2003) 1.00
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Arch Dermatol (2006) 0.99
Surgical division of labial adhesions in vulvar lichen sclerosus and lichen planus. J Low Genit Tract Dis (2013) 0.97
A hairy paradox: congenital triangular alopecia with a central hair tuft. Dermatology (2010) 0.97
Becker's nevus syndrome revisited. J Am Acad Dermatol (2004) 0.97
An insight into the phylogenetic history of HOX linked gene families in vertebrates. BMC Evol Biol (2007) 0.97
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet (2010) 0.97
A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia. Blood (2010) 0.96
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest (2004) 0.96
Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development. BMC Dev Biol (2010) 0.95
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. J Invest Dermatol (2012) 0.95
Diphencyprone for the treatment of alopecia areata: more data and new aspects. Arch Dermatol (2002) 0.94
Nevoid hypertrichosis and hypomelanosis. Eur J Dermatol (2002) 0.93
Vulval and perianal inflammatory linear verrucous epidermal naevus. Australas J Dermatol (2009) 0.93
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. Am J Med Genet A (2008) 0.93
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat (2010) 0.93
Corticosteroid phobia and other confounders in the treatment of childhood atopic dermatitis explored using parent focus groups. Australas J Dermatol (2010) 0.92
Paediatric vulval lichen sclerosus. Australas J Dermatol (2009) 0.91
Linear psoriasis and ILVEN: is lumping or splitting appropriate? Dermatology (2006) 0.91
Spectrum of the acrocallosal syndrome. Am J Med Genet (2002) 0.90
An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. Eur J Hum Genet (2008) 0.90
Persistence of long-term immunity to hepatitis B among adolescents immunized at birth. Vaccine (2012) 0.89
Pyogenic granuloma in children: treatment with topical imiquimod. Australas J Dermatol (2007) 0.89
Nevus psiloliparus and aplasia cutis: a further possible example of didymosis. Pediatr Dermatol (2005) 0.89
Oral propranolol therapy for infantile hemangiomas beyond the proliferation phase: a multicenter retrospective study. Pediatr Dermatol (2011) 0.89
Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism. Dermatology (2006) 0.88
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. Cancer Res (2004) 0.88
Folliculocystic and collagen hamartoma of tuberous sclerosis complex. J Am Acad Dermatol (2011) 0.88
Trichorrhizophagia. Eur J Dermatol (2004) 0.88
Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles. Dermatology (2006) 0.87
Multiple eruptive dermatofibromas: a review of the literature. Acta Derm Venereol (2002) 0.87
Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene. J Invest Dermatol (2004) 0.86
Desquamative inflammatory vaginitis: differential diagnosis and alternate diagnostic criteria. J Low Genit Tract Dis (2010) 0.86
Point mutations in GLI3 lead to misregulation of its subcellular localization. PLoS One (2009) 0.86
A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. Am J Med Genet A (2004) 0.86
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. Am J Med Genet A (2005) 0.86
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat (2013) 0.85
Targeting epidermal lipids for treatment of Mendelian disorders of cornification. Orphanet J Rare Dis (2014) 0.85
Childhood onset vulvar lichen sclerosus does not resolve at puberty: a prospective case series. Pediatr Dermatol (2010) 0.85
A large duplication involving the IHH locus mimics acrocallosal syndrome. Eur J Hum Genet (2012) 0.85
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. Dermatology (2010) 0.85
Familial disseminated comedones without dyskeratosis: report of an affected family and review of the literature. Dermatology (2014) 0.85
Interleukin-10-deficient mice are less susceptible to the induction of alopecia areata. J Invest Dermatol (2002) 0.85
Speckled lentiginous nevus syndrome: report of a further case. Dermatology (2004) 0.85
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. J Clin Invest (2012) 0.85
Treatment goals for moderate to severe psoriasis: an Australian consensus. Australas J Dermatol (2013) 0.85
Delineation of the various shapes and patterns of nevi. Eur J Dermatol (2005) 0.85
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol (2002) 0.85
Donor dominance cures CHILD nevus. Dermatology (2010) 0.84
Evolution and functional diversification of the GLI family of transcription factors in vertebrates. Evol Bioinform Online (2009) 0.84
Phacomatosis cesioflammea with unilateral lipohypoplasia. Am J Med Genet A (2008) 0.84
Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling. Dermatology (2004) 0.84
Papular epidermal nevus with "skyline" basal cell layer (PENS). J Am Acad Dermatol (2011) 0.84
Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies. Am J Med Genet (2002) 0.84
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome. Eur J Hum Genet (2002) 0.83
Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis. Pediatr Dermatol (2003) 0.83
Mucocutaneous telangiectases of the head and neck in individuals with hereditary hemorrhagic telangiectasia -- analysis of distribution and symptoms. Eur J Dermatol (2004) 0.82
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. Fetal Pediatr Pathol (2010) 0.82
Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. Am J Med Genet A (2014) 0.82
Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation. J Invest Dermatol (2012) 0.82
Superimposed segmental dermatomyositis: an emerging new paradigm. Eur J Dermatol (2010) 0.82
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol (2006) 0.81
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. Eur J Hum Genet (2005) 0.81
Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss. Eur J Dermatol (2003) 0.81
Cutis tricolor parvimaculata: a distinct neurocutaneous syndrome? Dermatology (2005) 0.80
Darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting. Dermatology (2002) 0.80
Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea). Eur J Dermatol (2003) 0.80
Autologous in vitro reconstituted epidermis in the treatment of a large nevus depigmentosus. J Am Acad Dermatol (2006) 0.80
Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata". Eur J Dermatol (2008) 0.80