Published in Ann Plast Surg on February 01, 2008
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Action tremor caused by olivary cavernoma in Klippel-Trénaunay syndrome mimicking asymmetric essential tremor. J Neurol (2010) 0.96
Genetics, epigenetics and pharmaco-(epi)genomics in angiogenesis. J Cell Mol Med (2008) 0.93
Vascular malformations involving the female pelvis. Semin Intervent Radiol (2008) 0.88
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MR imaging characteristics of soft tissue vascular anomalies in children. Eur J Pediatr (2012) 0.85
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BRAFE600-associated senescence-like cell cycle arrest of human naevi. Nature (2005) 16.87
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Elements of morphology: introduction. Am J Med Genet A (2009) 2.39
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet (2005) 2.06
3D analysis of facial morphology. Am J Med Genet A (2004) 1.95
Redarkening of port-wine stains 10 years after pulsed-dye-laser treatment. N Engl J Med (2007) 1.92
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet A (2005) 1.85
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet (2005) 1.81
Reliable and feasible evaluation of linear scars by the Patient and Observer Scar Assessment Scale. Plast Reconstr Surg (2005) 1.74
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Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet (2007) 1.63
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet (2008) 1.58
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard (2005) 1.48
[Desire for amputation in body integrity identity disorder]. Ned Tijdschr Geneeskd (2014) 1.45
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A (2007) 1.44
The Peters' plus syndrome: a review. Ann Genet (2002) 1.42
Ankle-arm index versus angiography for the preassessment of the fibula free flap. Plast Reconstr Surg (2003) 1.41
MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat (2010) 1.41
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet (2003) 1.40
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet (2013) 1.39
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. J Biol Chem (2008) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat (2013) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. Am J Med Genet A (2013) 1.26
The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? Am J Med Genet A (2011) 1.25
Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genet Med (2005) 1.25
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study. Hum Reprod (2007) 1.22
High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet (2013) 1.21
Prevalence and patterns of morphological abnormalities in patients with childhood cancer. JAMA (2008) 1.18
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet (2002) 1.17
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet (2003) 1.16
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood (2005) 1.15
Differences in collagen architecture between keloid, hypertrophic scar, normotrophic scar, and normal skin: An objective histopathological analysis. Wound Repair Regen (2009) 1.13
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet (2006) 1.11
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet (2009) 1.10
Prevalence of rib anomalies in normal Caucasian children and childhood cancer patients. Eur J Med Genet (2005) 1.09
Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A (2005) 1.07
Risk of malignant transformation of congenital melanocytic nevi: a retrospective nationwide study from The Netherlands. Plast Reconstr Surg (2005) 1.06
Microvascular proliferation in congenital vascular malformations of skin and soft tissue. J Clin Pathol (2006) 1.05
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet (2009) 1.05
Further delineation of Frank-ter Haar syndrome. Am J Med Genet A (2004) 1.03
Maternal nutritional status and the risk for orofacial cleft offspring in humans. J Nutr (2004) 1.02
Non-immune hydrops fetalis: a short review of etiology and pathophysiology. Am J Med Genet A (2012) 1.02
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. Hum Genet (2010) 1.01
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. Am J Med Genet A (2008) 1.01
Etiology of nonimmune hydrops fetalis: a systematic review. Am J Med Genet A (2009) 1.00
Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet (2012) 1.00
Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome. Am J Med Genet A (2005) 0.99
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet (2009) 0.98
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet (2012) 0.97
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet A (2005) 0.97
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet (2009) 0.97
Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet (2002) 0.96
Towards optimization of selective photothermolysis: prothrombotic pharmaceutical agents as potential adjuvants in laser treatment of port wine stains. A theoretical study. Thromb Haemost (2005) 0.96
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet (2011) 0.96
The prevalence and risk factors of infantile haemangiomas: a case-control study in the Dutch population. Paediatr Perinat Epidemiol (2011) 0.96
Growth hormone analysis and treatment in Ellis-van Creveld syndrome. Am J Med Genet A (2007) 0.96
A proposal for classification of entities combining vascular malformations and deregulated growth. Eur J Med Genet (2011) 0.96
Phenotypic abnormalities: terminology and classification. Am J Med Genet A (2003) 0.95
Immunological abnormalities in CHARGE syndrome. Eur J Med Genet (2007) 0.95
Vascular malformations as underlying cause of chronic thromboembolism and pulmonary hypertension. J Plast Reconstr Aesthet Surg (2008) 0.94
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta (2012) 0.94
Chronic pulmonary embolism in Klippel-Trenaunay syndrome. J Am Acad Dermatol (2011) 0.94
Growth charts for children with Ellis-van Creveld syndrome. Eur J Pediatr (2010) 0.93
Connective tissue involvement in two patients with features of cranioectodermal dysplasia. Am J Med Genet A (2009) 0.93
Familial clustering of giant congenital melanocytic nevi. J Plast Reconstr Aesthet Surg (2009) 0.92
Clinical disorders of primary malfunctioning of the lymphatic system. Adv Anat Embryol Cell Biol (2014) 0.92
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T-cell immune function in tumor, skin, and peripheral blood of advanced stage melanoma patients: implications for immunotherapy. Clin Cancer Res (2011) 0.92
Infantile hypertrophic pyloric stenosis--genetics and syndromes. Nat Rev Gastroenterol Hepatol (2012) 0.92
Rapid alignment of collagen fibers in the dermis of undermined and not undermined skin stretched with a skin-stretching device. Plast Reconstr Surg (2002) 0.91
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. Am J Med Genet A (2005) 0.91
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? Am J Med Genet A (2007) 0.90
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet (2007) 0.89
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. Eur J Med Genet (2012) 0.89
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. Am J Med Genet A (2005) 0.89
Overstretching of sarcomeres may not cause cerebral palsy muscle contracture. J Orthop Res (2004) 0.88
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J Hum Genet (2010) 0.88
The persistent embryonic vein in Klippel-Trenaunay syndrome. Vasc Med (2013) 0.88