Published in Hum Mol Genet on December 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
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
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet (2008) 1.17
Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues. Proc Natl Acad Sci U S A (1998) 0.92
Advances in therapeutic development for spinal muscular atrophy. Future Med Chem (2014) 0.89
Spinal muscular atrophy: untangling the knot? J Med Genet (1999) 0.88
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7. BMC Med Genet (2012) 0.87
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins. J Neurol (2007) 0.87
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. J Med Genet (1998) 0.86
Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy. Am J Pathol (1998) 0.84
Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. EMBO Mol Med (2013) 0.84
Spinal muscular atrophy. J Inherit Metab Dis (1999) 0.82
Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. Am J Hum Genet (1998) 0.81
Genetic Modifiers for Neuromuscular Diseases. J Neuromuscul Dis (2015) 0.77
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas. Int J Cancer (1995) 5.24
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet (1996) 4.62
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet (2001) 3.10
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science (1994) 2.87
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79
Commensal Escherichia coli isolates are phylogenetically distributed among geographically distinct human populations. Microbiology (2001) 2.65
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Identification of regions of the Escherichia coli chromosome specific for neonatal meningitis-associated strains. Infect Immun (2000) 2.19
Structure and organization of the human survival motor neurone (SMN) gene. Genomics (1996) 2.12
Gene targeting restricted to mouse striated muscle lineage. Nucleic Acids Res (1999) 2.11
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet (2000) 2.09
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
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. Proc Natl Acad Sci U S A (1999) 1.99
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am J Med Genet (1993) 1.82
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am J Hum Genet (1993) 1.74
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology (2009) 1.67
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J Cell Biol (2001) 1.64
Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) Am J Med Genet (1992) 1.60
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet (1993) 1.60
In vivo selection of a target/efflux double mutant of Pseudomonas aeruginosa by ciprofloxacin therapy. J Antimicrob Chemother (2001) 1.57
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. Nat Genet (1999) 1.56
What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes. Am J Med Genet (1996) 1.55
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum Mol Genet (1999) 1.53
Oral-facial-skeletal syndromes. Am J Med Genet (1995) 1.53
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet (1990) 1.50
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet (1994) 1.49
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46
Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. Am J Med Genet (1992) 1.46
XLMR genes: update 1996. Am J Med Genet (1996) 1.43
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet (1997) 1.41
In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet (1998) 1.34
Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion. Proc Natl Acad Sci U S A (1971) 1.32
Mechanisms of macrolide resistance in clinical group B streptococci isolated in France. Antimicrob Agents Chemother (2001) 1.32
A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet (1994) 1.31
XLMR genes: update 2000. Eur J Hum Genet (2001) 1.29
An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. Hum Genet (1990) 1.28
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet (1998) 1.24
[Quality of life assessment: validation of the Italian version of the WHOQOL-Brief]. Epidemiol Psichiatr Soc (2000) 1.24
Survival analysis in families affected by hereditary non-polyposis colorectal cancer. Int J Cancer (1997) 1.23
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chromosomes Cancer (1997) 1.20
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. Am J Med Genet (1993) 1.19
Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis. Gut (1999) 1.19
Bacteraemia caused by third-generation cephalosporin-resistant Escherichia coli in France: prevalence, molecular epidemiology and clinical features. Clin Microbiol Infect (2011) 1.18
New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia. Am J Med Genet (1992) 1.17
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet (2002) 1.14
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet (2007) 1.14
Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet (1986) 1.13
Phage antibodies with pan-species recognition of the oncofoetal angiogenesis marker fibronectin ED-B domain. Int J Cancer (1996) 1.12
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics (1997) 1.10
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet (1996) 1.10
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet (1994) 1.10
Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer. Fam Cancer (2001) 1.09
Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields. Am J Med Genet (1989) 1.08
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A (2009) 1.06
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet (2008) 1.05
SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet (1995) 1.05
Breast milk transmission of a Panton-Valentine leukocidin-producing Staphylococcus aureus strain causing infantile pneumonia. J Clin Microbiol (2001) 1.04
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. Am J Med Genet (1994) 1.04
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A (2005) 1.04
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. Hum Genet (1998) 1.03
Cyclin D1 gene amplification in human laryngeal squamous cell carcinomas: prognostic significance and clinical implications. Clin Cancer Res (1996) 1.03
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology (2009) 1.03
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet (1996) 1.02
A split hand-split foot (SHFM3) gene is located at 10q24-->25. Am J Med Genet (1996) 1.00
Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications. Hum Mol Genet (2006) 0.99
CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred. Genes Chromosomes Cancer (2001) 0.99
Peritoneal mesothelioma in recurrent familial peritonitis. J Clin Gastroenterol (1997) 0.99
XLMR genes: update 1998. Am J Med Genet (1999) 0.98
Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. Am J Med Genet (1983) 0.98
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur J Hum Genet (2000) 0.98
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology (1997) 0.98
Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet (2003) 0.97
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet (1999) 0.97
Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome. Am J Med Genet (1999) 0.97
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord (2005) 0.97
The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution. Hum Mol Genet (1999) 0.96
Gene for non-specific X-linked mental retardation maps in the pericentromeric region. Am J Med Genet (1991) 0.96
Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet (1996) 0.96
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. Horm Res (2005) 0.96
Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Am J Hum Genet (1994) 0.95
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest (1996) 0.95
Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients. Hum Mol Genet (1999) 0.95