Published in Exp Dermatol on March 22, 2011
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med (2014) 0.81
An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture. G3 (Bethesda) (2016) 0.78
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
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
LOH-pitfalls of an ambiguous abbreviation. Aging Male (2008) 2.01
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
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
Overlapping expression of microRNAs in human embryonic colon and colorectal cancer. Cell Res (2008) 1.72
Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers. PLoS One (2007) 1.68
"Eczema coxsackium" and unusual cutaneous findings in an enterovirus outbreak. Pediatrics (2013) 1.57
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet (2010) 1.50
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
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet (2003) 1.45
Common infectious agents in multiple sclerosis: a case-control study in children. Mult Scler (2007) 1.44
Familial cutis tricolor: a possible example of paradominant inheritance. Eur J Dermatol (2003) 1.44
Smoker's boils. Dermatology (2011) 1.41
Phacomatosis pigmentovasculosebacea: an unusual case of phacomatosis multiplex. Eur J Dermatol (2003) 1.39
Follicular fluid markers of oocyte developmental potential. Hum Reprod (2002) 1.28
Day 3 embryo transfer with combined evaluation at the pronuclear and cleavage stages compares favourably with day 5 blastocyst transfer. Hum Reprod (2002) 1.26
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
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet (2012) 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
High tidal volume ventilation causes different inflammatory responses in newborn versus adult lung. Am J Respir Crit Care Med (2004) 1.04
Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: quality assurance on behalf of SIOPEN-R-NET. Eur J Cancer (2006) 1.03
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements. J Lab Clin Med (2006) 1.03
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
Kinetic of regulatory CD25high and activated CD134+ (OX40) T lymphocytes during acute and chronic graft-versus-host disease after allogeneic bone marrow transplantation. Br J Haematol (2004) 1.01
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
Single nucleotide polymorphisms in nucleotide excision repair genes XPA, XPD, XPG and ERCC1 in advanced colorectal cancer patients treated with first-line oxaliplatin/fluoropyrimidine. Oncology (2008) 0.98
An insight into the phylogenetic history of HOX linked gene families in vertebrates. BMC Evol Biol (2007) 0.97
Becker's nevus syndrome revisited. J Am Acad Dermatol (2004) 0.97
A hairy paradox: congenital triangular alopecia with a central hair tuft. Dermatology (2010) 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
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. Eur J Hum Genet (2011) 0.95
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. Am J Med Genet A (2008) 0.95
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. J Invest Dermatol (2012) 0.95
Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development. BMC Dev Biol (2010) 0.95
Diphencyprone for the treatment of alopecia areata: more data and new aspects. Arch Dermatol (2002) 0.94
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. Am J Med Genet A (2008) 0.93
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Am J Med Genet A (2009) 0.93
Nevoid hypertrichosis and hypomelanosis. Eur J Dermatol (2002) 0.93
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat (2010) 0.93
MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. Genet Med (2007) 0.92
Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease. Mol Carcinog (2010) 0.92
Linear psoriasis and ILVEN: is lumping or splitting appropriate? Dermatology (2006) 0.91
MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors. J Cancer Res Clin Oncol (2008) 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
Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci. Am J Med Genet A (2007) 0.89
Nevus psiloliparus and aplasia cutis: a further possible example of didymosis. Pediatr Dermatol (2005) 0.89
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
Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism. Dermatology (2006) 0.88
Trichorrhizophagia. Eur J Dermatol (2004) 0.88
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies. BMC Med Genomics (2010) 0.87
Multiple eruptive dermatofibromas: a review of the literature. Acta Derm Venereol (2002) 0.87
Is the risk of multiple sclerosis related to the 'biography' of the immune system? J Neurol (2009) 0.87
Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles. Dermatology (2006) 0.87
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. J Inherit Metab Dis (2009) 0.86