Published in Am J Med Genet on June 01, 1993
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet (1996) 1.83
SPRED 1 mutations in a neurofibromatosis clinic. J Child Neurol (2010) 1.03
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J Hum Genet (2014) 1.00
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. Am J Hum Genet (1998) 0.83
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999) 4.87
Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. Cytogenet Cell Genet (1986) 3.76
Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q. Genomics (1989) 3.16
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet (2001) 2.95
Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol (1998) 2.70
Photodynamic therapy vs. topical imiquimod for treatment of superficial basal cell carcinoma: a subgroup analysis within a noninferiority randomized controlled trial. Br J Dermatol (2014) 2.60
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med (2001) 2.50
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med (1992) 1.78
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
Identification and characterization of the in vitro synthesized gene products of bacteriophage M13. J Virol (1975) 1.75
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology (1999) 1.67
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet (1995) 1.65
The hereditary palmoplantar keratoses: an updated review and classification. Br J Dermatol (1994) 1.58
Maternal uniparental disomy 7--review and further delineation of the phenotype. Eur J Pediatr (2000) 1.56
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet (1993) 1.48
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet (1996) 1.47
Five-year results of a randomised clinical trial of endovenous laser ablation of the great saphenous vein with and without ligation of the saphenofemoral junction. Eur J Vasc Endovasc Surg (2011) 1.47
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet (1996) 1.47
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nat Genet (1994) 1.44
A new type of erythrokeratoderma. Br J Dermatol (2005) 1.43
Familial adult-onset muscular dystrophy with leukoencephalopathy. Ann Neurol (1992) 1.40
Nucleotide sequence of gene VII and of a hypothetical gene (IX) in bacteriophage M13. Nucleic Acids Res (1978) 1.40
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. Br J Dermatol (2012) 1.39
An unusual case of porokeratosis involving the natal cleft: porokeratosis ptychotropica? Br J Dermatol (1995) 1.36
Cloning of a novel transcription factor-like gene amplified in human glioma including astrocytoma grade I. Hum Mol Genet (1997) 1.34
XLMR genes: update 2000. Eur J Hum Genet (2001) 1.29
Mycosis fungoides: disease evolution and prognosis of 309 Dutch patients. Arch Dermatol (2000) 1.29
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet (1993) 1.28
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet (2005) 1.26
Myotonic dystrophy. Predictive value of normal results on clinical examination. Brain (1991) 1.24
[Phacomatosis pigmentovascularis interpreted as a phenomenon of twin spots]. Hautarzt (1989) 1.24
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet (1989) 1.22
Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Mol Genet (1996) 1.21
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics (1999) 1.19
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet (1999) 1.18
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet (1993) 1.16
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet (2007) 1.13
Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. Eur J Hum Genet (1997) 1.13
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet (1993) 1.12
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain (2001) 1.11
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet (1994) 1.10
Cri du chat syndrome: changing phenotype in older patients. Am J Med Genet (2000) 1.09
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics (2000) 1.08
Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study. Br J Dermatol (2007) 1.08
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet (2003) 1.07
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3. Am J Med Genet (1999) 1.07
Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene. Am J Hum Genet (1989) 1.06
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A (2005) 1.05
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet (2000) 1.03
Presymptomatic diagnosis of myotonic dystrophy. J Med Genet (1992) 1.02
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. Eur J Hum Genet (2000) 1.02
HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol (2002) 1.01
Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia. Teratology (1999) 1.01
Aplasia cutis congenita and associated disorders: an update. Clin Genet (1995) 1.00
Sex ratios of affected and transmitting members of multiple case families with neural tube defects. J Med Genet (1992) 0.99
Clinical and molecular overlap between myopathies and inherited connective tissue diseases. Neuromuscul Disord (2008) 0.99
Compound-heterozygous Marfan syndrome. Eur J Med Genet (2008) 0.98
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum Mol Genet (1999) 0.98
Treatment of palmoplantar lichen nitidus with acitretin. Br J Dermatol (1994) 0.97
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar). Am J Med Genet (1994) 0.96
Additional congenital defects in anorectal malformations. Eur J Pediatr (1996) 0.96
A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family. Am J Hum Genet (1999) 0.96
Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred. Br J Dermatol (2001) 0.96
Randomized clinical trial comparing endovenous laser with cryostripping for great saphenous varicose veins. Br J Surg (2008) 0.95
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. Br J Dermatol (1999) 0.95
Perlman syndrome: four additional cases and review. Am J Med Genet (1999) 0.95
Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis (2000) 0.94
Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease. Hum Mol Genet (1994) 0.94
Becker's naevus with localized lipoatrophy and ipsilateral breast hypoplasia. Br J Dermatol (1993) 0.93
RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. J Invest Dermatol (1996) 0.92
Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. J Med Genet (1997) 0.92
Fractionated 5-aminolaevulinic acid-photodynamic therapy vs. surgical excision in the treatment of nodular basal cell carcinoma: results of a randomized controlled trial. Br J Dermatol (2008) 0.92
Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. J Invest Dermatol (1992) 0.92
A case of Rombo syndrome. Br J Dermatol (2001) 0.92
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. Am J Med Genet A (2007) 0.92
Tenascin expression in human dermis is related to epidermal proliferation. Am J Pathol (1991) 0.91
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene. Am J Med Genet (1998) 0.91
Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome. Eur J Pediatr (2001) 0.91
Oral contraceptives in the treatment of Darier-White disease--a case report and review of the literature. Clin Exp Dermatol (1996) 0.90
Familial primary pulmonary hypoplasia. Eur J Pediatr (1995) 0.90
Spinal muscular atrophy combined with congenital heart disease: a report of two cases. Neuropediatrics (1996) 0.89
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur J Hum Genet (1998) 0.89
Genetic and physical demarcation of the locus for dystrophia myotonica. Adv Neurol (1988) 0.89
Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet (1998) 0.88
Randomised comparison of costs and cost-effectiveness of cryostripping and endovenous laser ablation for varicose veins: 2-year results. Eur J Vasc Endovasc Surg (2008) 0.87
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. J Med Genet (2001) 0.87
Pachyonychia congenita tarda. Clin Exp Dermatol (1995) 0.87
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol (1994) 0.87
Absence of linkage between familial neural tube defects and PAX3 gene. J Med Genet (1995) 0.87
Acrokeratosis paraneoplastica (Bazex syndrome) occurring with acquired ichthyosis in Hodgkin's disease. Br J Dermatol (1995) 0.87
Randomized clinical trial comparing endovenous laser ablation of the great Saphenous vein with and without ligation of the sapheno-femoral junction: 2-year results. Eur J Vasc Endovasc Surg (2008) 0.86
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. Am J Hum Genet (1999) 0.86
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. Br J Dermatol (2011) 0.86