Published in Am J Hum Genet on October 01, 1996
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29
When is a deletion not a deletion? When it is converted. Am J Hum Genet (1997) 2.38
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet (1999) 2.21
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet (1997) 2.05
Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet (1997) 1.74
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet (2006) 1.62
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet (1998) 1.56
Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. EMBO Mol Med (2013) 0.84
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Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann Neurol (2014) 0.82
Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. Am J Hum Genet (1998) 0.81
A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing. J Hum Genet (2015) 0.81
Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy. Ann Indian Acad Neurol (2013) 0.79
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy. Eur J Hum Genet (2015) 0.75
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell (1995) 5.50
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature (1990) 3.77
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature (1990) 3.48
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Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet (1990) 3.12
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science (1994) 2.87
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature (1990) 2.73
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet (1995) 2.59
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet (1995) 2.34
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet (1995) 2.33
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Chimeric cDNA clones: a novel PCR artifact. Nucleic Acids Res (1991) 2.07
Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet (1996) 1.83
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet (1995) 1.45
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest (1990) 1.41
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet (1994) 1.33
Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat (1994) 0.93
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen). Hum Genet (1993) 0.82
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature (1995) 7.11
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell (1996) 5.99
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet (1993) 4.21
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet (1989) 3.81
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet (1997) 3.68
A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics (1988) 3.18
A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme. Proc Natl Acad Sci U S A (1993) 3.09
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet (1985) 3.08
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet (1998) 2.77
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet (1990) 2.60
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord (2011) 2.47
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (1987) 2.44
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet (1995) 2.33
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet (1996) 2.29
Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chromosomes Cancer (1998) 2.27
Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet (1999) 2.27
The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett (2000) 2.24
The X chromosome shows less genetic variation at restriction sites than the autosomes. Am J Hum Genet (1986) 2.22
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology (1989) 2.12
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet (1989) 2.11
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet (1993) 2.08
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet (2005) 1.96
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet (1984) 1.90
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. Genomics (1987) 1.89
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology (2008) 1.86
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology (2001) 1.84
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer (1997) 1.83
The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24. Hum Genet (1985) 1.82
Deletions of the short arm of chromosome 3 in solid tumors and the search for suppressor genes. Adv Cancer Res (1997) 1.81
A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus. Hum Genet (1986) 1.80
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet (1992) 1.80
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet (1987) 1.77
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet (2000) 1.76
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet (2001) 1.76
Lymphoma-associated translocation t(14;18) in blood B cells of normal individuals. Blood (1995) 1.71
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
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet (1996) 1.65
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet (1996) 1.64
Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet (2009) 1.64
Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60
Activation of the c-myc oncogene in a precursor-B-cell blast crisis of follicular lymphoma, presenting as composite lymphoma. N Engl J Med (1988) 1.59
Duplications in the DMD gene. Hum Mutat (2006) 1.58
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell (1997) 1.57
Bcl-2/JH rearrangements in benign lymphoid tissues with follicular hyperplasia. Oncogene (1991) 1.56
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A (2005) 1.54
Persistent failures in gene repair. Nat Biotechnol (2001) 1.54
Duration of illness in Huntington's disease is not related to age at onset. J Neurol Neurosurg Psychiatry (1993) 1.51
A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage. Oncogene (2001) 1.50
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization. Nature (1985) 1.46
Rapid uptake by liver sinusoidal cells of serum albumin modified with retention of its compact conformation. Biochim Biophys Acta (1975) 1.45
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet (1995) 1.43
Variation, transcription and circular RNAs of the mitochondrial gene for subunit I of cytochrome c oxidase. J Mol Biol (1983) 1.43
The EEC syndrome: a literature study. Clin Dysmorphol (1996) 1.43
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology (2002) 1.40
Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus. Hum Genet (1986) 1.38
Osteogenesis Imperfecta: A Review with Clinical Examples. Mol Syndromol (2011) 1.38
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet (2000) 1.37
Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet (1987) 1.36
SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family. Genomics (1997) 1.34
Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis. Nucleic Acids Res (1998) 1.34
p53 mutations in human lung tumors. Cancer Res (1992) 1.33
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer (2001) 1.32
Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells. Gene Ther (2004) 1.31
Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J (2005) 1.31
High-resolution in situ hybridization using DNA halo preparations. Hum Mol Genet (1992) 1.31
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. J Clin Invest (1989) 1.30
Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res (2006) 1.29
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet (1991) 1.29
Consanguinity sans reproche. Hum Genet (1991) 1.29
Characterization of three new variant type cell lines derived from small cell carcinoma of the lung. Cancer Res (1985) 1.28
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet (2000) 1.26
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
Presymptomatic DNA-testing for Huntington disease: pretest attitudes and expectations of applicants and their partners in the Dutch program. Am J Med Genet (1993) 1.25
Cytogenetic analysis of epithelial renal-cell tumors: relationship with a new histopathological classification. Int J Cancer (1993) 1.25
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling. BMC Genomics (2005) 1.23