Published in Neuromuscul Disord on January 01, 2002
Approach to the diagnosis of congenital myopathies. Neuromuscul Disord (2013) 1.40
Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve (2010) 0.89
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999) 4.87
Predicting disease genes using protein-protein interactions. J Med Genet (2006) 4.10
The modular nature of genetic diseases. Clin Genet (2007) 4.06
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet (1996) 3.53
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry (2007) 3.44
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet (2005) 3.03
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet (2001) 2.95
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet (2001) 2.80
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet (1999) 2.75
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet (2000) 2.41
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet (1997) 2.06
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet (2004) 2.04
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet (2000) 2.03
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
Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology (2010) 2.01
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology (2001) 1.97
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet (1999) 1.92
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet (2002) 1.86
Complex regional pain syndrome type I (RSD): pathology of skeletal muscle and peripheral nerve. Neurology (1998) 1.86
High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer. J Clin Oncol (2003) 1.86
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82
Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology (2007) 1.79
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet (2007) 1.76
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet (2009) 1.74
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet (1994) 1.69
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol (2001) 1.60
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet (2005) 1.60
Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet (2002) 1.59
Genetic characteristics of myoadenylate deaminase deficiency. Ann Neurol (1998) 1.57
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet (2004) 1.56
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet (2008) 1.56
Polyneuropathy in lithium intoxication. Muscle Nerve (1990) 1.55
Anti-signal recognition particle autoantibodies: marker of a necrotising myopathy. Ann Rheum Dis (2006) 1.54
Ptosis as a feature of late-onset glycogenosis type II. Neurology (2006) 1.49
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr (1986) 1.46
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet (2011) 1.46
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology (2008) 1.45
Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry (2005) 1.45
Development and developmental disorders of the human cerebellum. J Neurol (2003) 1.44
Familial adult-onset muscular dystrophy with leukoencephalopathy. Ann Neurol (1992) 1.40
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet (2003) 1.40
Pathological findings in a patient with amyotrophic lateral sclerosis and multifocal motor neuropathy with conduction block. J Neurol Sci (1996) 1.39
Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr (1999) 1.39
GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases. Nucleic Acids Res (2005) 1.38
Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet (2005) 1.36
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet (2009) 1.31
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet (2004) 1.30
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology (2006) 1.30
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry (2009) 1.29
In vitro action of bombesin and bombesin-like peptides on amylase secretion, calcium efflux, and adenylate cyclase activity in the rat pancreas: a comparison with other secretagogues. J Clin Invest (1976) 1.25
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J Med Genet (2003) 1.24
Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab (2001) 1.22
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J Clin Invest (1996) 1.22
Cell loss and shrinkage in the nucleus basalis Meynert complex in Alzheimer's disease. Neurobiol Aging (1990) 1.22
Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies. J Neurol Neurosurg Psychiatry (2004) 1.21
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. J Med Genet (2003) 1.20
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology (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
Probing the gene expression database for candidate genes. Eur J Hum Genet (1999) 1.18
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
Clinical neurophysiology of fatigue. Clin Neurophysiol (2007) 1.17
Protein S-100B, neuron-specific enolase (NSE), myelin basic protein (MBP) and glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and blood of neurological patients. Brain Res Bull (2003) 1.17
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. Br J Cancer (2007) 1.16
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat (2005) 1.16
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology (2001) 1.15
Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas. Cancer Res (1997) 1.13
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum Mol Genet (1999) 1.13
Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy. Hum Genet (1989) 1.13
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet (2013) 1.13
Clinical characteristics of patients with myositis and autoantibodies to different fragments of the Mi-2 beta antigen. Ann Rheum Dis (2006) 1.12
99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.12
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet (1992) 1.11
Drug treatment for myotonia. Cochrane Database Syst Rev (2006) 1.11
Variation of CNV distribution in five different ethnic populations. Cytogenet Genome Res (2007) 1.10
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet (1998) 1.10
Globoid cell leukodystrophy: a family with both late-infantile and adult type. Neurology (1991) 1.10
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest (1996) 1.09
CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. Hum Mol Genet (2001) 1.09
Experienced and physiological fatigue in neuromuscular disorders. Clin Neurophysiol (2006) 1.08
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J Mol Med (Berl) (2005) 1.07
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3. Am J Med Genet (1999) 1.07