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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet (2006) 1.64

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UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res (1973) 1.56

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet (2008) 1.56

Differential diagnosis and management of focal ground-glass opacities. Eur Respir J (2008) 1.54

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis (2001) 1.49

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet (1999) 1.48

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology (2008) 1.45

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet (2008) 1.45

Coexistence of Gaucher disease type 1 and Joubert syndrome. J Med Genet (1998) 1.40

Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly. Childs Nerv Syst (1999) 1.39

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics (2003) 1.39

A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet (2001) 1.37

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet (1995) 1.37

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form. Neuropediatrics (1985) 1.33

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis (1993) 1.32

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab (2007) 1.29

Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis (1995) 1.28

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun (1998) 1.27

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet (2005) 1.27

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24

Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab (2001) 1.22

Xeroderma pigmentosum--Cockayne syndrome complex: a further case. J Med Genet (1996) 1.22

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet (2001) 1.20

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology (2004) 1.19

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet (1995) 1.19

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet (1994) 1.18

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab (2007) 1.18

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet (1985) 1.17

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet (1999) 1.17

Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem Biophys Res Commun (1994) 1.17

Repair replication in human cells studied by sodium iodide isopycnic centrifugation of DNA in a fixed-angle rotor. Anal Biochem (1973) 1.16

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab (1999) 1.16

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inherit Metab Dis (1996) 1.15

Prenatal diagnosis of Sanfilippo disease type B. Hum Genet (1984) 1.14

Incidence of Menkes disease. Hum Genet (1991) 1.14

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. Hum Mol Genet (1994) 1.14

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet (1995) 1.13

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet (2009) 1.13

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet (2003) 1.12

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. Neurogenetics (2006) 1.12

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci U S A (1992) 1.12

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum Mutat (1997) 1.10

Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants. Hum Genet (1980) 1.09

Workshop on inborn errors of metabolism. Prog Clin Biol Res (1982) 1.09

Glycogenosis type II (acid maltase deficiency). Muscle Nerve Suppl (1995) 1.09

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet (2001) 1.08

Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol (1993) 1.07

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology (2010) 1.07

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology (2004) 1.06

Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy. Mutat Res (1990) 1.05

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C). J Inherit Metab Dis (1993) 1.05

A juvenile variant of glycogenosis IV (Andersen disease). Eur J Pediatr (1986) 1.04

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. Biochim Biophys Acta (1998) 1.04

Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency. Clin Genet (1979) 1.03

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet (2005) 1.03

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat (2000) 1.03

Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet (2007) 1.02

Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. Hum Mutat (1997) 1.02

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet (1998) 1.02

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology (2011) 1.02

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. Hum Mutat (2004) 1.01

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. J Neurol Neurosurg Psychiatry (2009) 1.01

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet (1999) 1.01

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet (1996) 1.01

Repair replication in heterokaryons deprived from different repair-deficient xeroderma pigmentosum strains. Mutat Res (1973) 1.01

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin Genet (2003) 1.01

Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases. Cancer Res (1995) 1.00

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet (2013) 1.00

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. Hum Mutat (1995) 0.99

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? Eur J Hum Genet (2001) 0.99

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. Clin Genet (2010) 0.99

Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. J Invest Dermatol (1998) 0.98

Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia. Prenat Diagn (1988) 0.98

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. Am J Hum Genet (1996) 0.98

X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed (1996) 0.98

Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? Am J Respir Crit Care Med (1998) 0.97