Gene deletions in X-linked muscular dystrophy.

PubWeight™: 1.29‹?› | Rank: Top 10%

🔗 View Article (PMC 1715571)

Published in Am J Hum Genet on April 01, 1989

Authors

M Lindlöf1, A Kiuru, H Kääriäinen, H Kalimo, H Lang, H Pihko, J Rapola, H Somer, M Somer, M L Savontaus

Author Affiliations

1: Department of Medical Genetics, University of Helsinki, Finland.

Articles cited by this

Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem (1984) 66.58

Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell (1987) 16.01

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell (1988) 10.75

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med (1988) 5.84

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

Immunoelectron microscopic localization of dystrophin in myofibres. Nature (1988) 3.37

Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature (1988) 3.25

A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics (1988) 3.18

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics (1988) 2.74

A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature (1987) 2.55

Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry (1966) 2.29

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

Clinical features and classification of the muscular dystrophies. Br Med Bull (1980) 1.82

Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature (1988) 1.81

Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet (1987) 1.68

The molecular genetics of Duchenne muscular dystrophy: the beginning of the end? Trends Genet (1988) 1.55

Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet (1988) 1.50

X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol (1988) 1.26

DNA deletions in mild and severe Becker muscular dystrophy. Hum Genet (1987) 1.14

The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet (1984) 1.12

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. J Med Genet (1986) 1.06

Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. J Med Genet (1986) 1.03

Molecular deletion analysis in Duchenne muscular dystrophy. J Med Genet (1986) 1.02

Duchenne muscular dystrophy. Localizing the gene product. Nature (1988) 0.90

Linked polymorphic DNA markers in the prediction of X-linked muscular dystrophy. Ann Hum Genet (1987) 0.89

Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am J Hum Genet (1988) 0.85

Microdeletions in patients with X-linked muscular dystrophy: molecular-clinical correlations. Clin Genet (1988) 0.85

Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. J Med Genet (1986) 0.83

Articles by these authors

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99

Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47

Classification of European mtDNAs from an analysis of three European populations. Genetics (1996) 6.28

Cost effectiveness of treating primary care patients in accident and emergency: a comparison between general practitioners, senior house officers, and registrars. BMJ (1996) 5.48

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet (2001) 5.09

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09

Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98

mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet (1998) 3.94

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature (1995) 3.78

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.46

Proteinase K from Tritirachium album Limber. Eur J Biochem (1974) 3.41

A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet (2001) 3.28

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet (1991) 3.07

Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res (1995) 2.93

Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet (1988) 2.59

Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst (2001) 2.59

Human mitochondrial DNA types in Finland. Hum Genet (1988) 2.53

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet (1994) 2.30

Alpha-fetoprotein: immunochemical purification and chemical properties. Expression in normal state and in malignant and non-malignant liver disease. Transplant Rev (1974) 2.26

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med (1998) 2.20

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol (1987) 2.18

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr (1997) 2.12

Negative impact of bone metastasis on outcome in clear-cell renal cell carcinoma treated with sunitinib. Ann Oncol (2010) 2.11

Small solid renal masses: characterization by diffusion-weighted MRI at 3 T. Clin Radiol (2013) 2.08

Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08

Muscle-eye-brain disease (MEB) Brain Dev (1989) 2.00

Response of the jejunal mucosa to cow's milk in the malabsorption syndrome with cow's milk intolerance. A light- and electron-microscopic study. Acta Paediatr Scand (1973) 1.98

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology (2001) 1.97

Interstitial chemotherapy with carmustine-loaded polymers for high-grade gliomas: a randomized double-blind study. Neurosurgery (1997) 1.97

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet (1991) 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

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet (1998) 1.85

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82

Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of aminotic-fluid and maternal serum alpha-fetoprotein. Lancet (1976) 1.82

[German S3-guideline "Diagnosis and treatment of esophagogastric cancer"]. Z Gastroenterol (2011) 1.74

The lumbar multifidus muscle five years after surgery for a lumbar intervertebral disc herniation. Spine (Phila Pa 1976) (1993) 1.73

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet (1997) 1.71

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology (1996) 1.71

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism. Am J Hum Genet (1989) 1.70

Celiac disease, brain atrophy, and dementia. Neurology (1991) 1.69

Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. Am J Hum Genet (2001) 1.68

Brain lactic acidosis and ischemic cell damage: 2. Histopathology. J Cereb Blood Flow Metab (1981) 1.66

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int (2000) 1.65

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet (1999) 1.65

Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet (1998) 1.63

Satellite cell proliferation and the expression of myogenin and desmin in regenerating skeletal muscle: evidence for two different populations of satellite cells. Lab Invest (1995) 1.62

Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. Am J Med Genet (1984) 1.61

Osteitis caused by bacille Calmette-Guérin vaccination: a retrospective analysis of 222 cases. J Infect Dis (1995) 1.61

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet (2001) 1.58

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry (1995) 1.57

Hypoglycemic brain injury. I. Metabolic and light microscopic findings in rat cerebral cortex during profound insulin-induced hypoglycemia and in the recovery period following glucose administration. Acta Neuropathol (1980) 1.56

The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol (1992) 1.55

Diagnostic value of cerebrospinal fluid adenosine deaminase determination. Scand J Infect Dis (1991) 1.52

Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer (2000) 1.49

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy. Am J Hum Genet (1990) 1.46

The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet (1996) 1.46

Differentiation of kidney mesenchyme in an experimental model system. Adv Morphog (1968) 1.44

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. Brain Dev (1995) 1.44

Intracranial aneurysms in three patients with disseminated Lyme borreliosis: cause or chance association? J Neurol Neurosurg Psychiatry (1998) 1.44

Isolated proteinuria: analysis of a school-age population. J Pediatr (1982) 1.43

[The role of diffusion 3-Tesla MRI in detecting prostate cancer before needle biopsy: multiparametric study of 111 patients]. J Radiol (2010) 1.43

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet (1995) 1.42

"Salla disease": a new lysosomal storage disorder. Arch Neurol (1979) 1.40

Infantile type of so-called neuronal ceroid-lipofuscinosis. Dev Med Child Neurol (1974) 1.39

Progressive unilateral hypertrophic myopathy: a case study. Muscle Nerve (1993) 1.39

Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. Am J Pathol (1999) 1.38

The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands. J Med Genet (1987) 1.38

Serum alpha-fetoprotein: diagnostic significance in liver disease. Br Med J (1974) 1.37

An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet (1995) 1.36

Regulated expression of exon v6 containing isoforms of CD44 in man: downregulation during malignant transformation of tumors of squamocellular origin. J Cell Biol (1993) 1.34

Leber's hereditary optic neuroretinopathy, a mitochondrial disease? Lancet (1984) 1.34

PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease. Brain (2008) 1.34

Effects of severe hypoglycemia on the human brain. Neuropathological case reports. Acta Neurol Scand (1980) 1.34

Microscopic hematuria in school children: epidemiology and clinicopathologic evaluation. J Pediatr (1979) 1.31

Ouabain application to the round window of the gerbil cochlea: a model of auditory neuropathy and apoptosis. J Assoc Res Otolaryngol (2001) 1.31

Insulin detemir used in basal-bolus therapy in people with type 1 diabetes is associated with a lower risk of nocturnal hypoglycaemia and less weight gain over 12 months in comparison to NPH insulin. Diabetes Obes Metab (2005) 1.30

Association of postmedication hypocortisolism with early first relapse of idiopathic nephrotic syndrome. Lancet (1977) 1.30

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest (1992) 1.30

Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett (1991) 1.29

Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies. J Neurol Sci (1973) 1.28

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28

Characterization of a G protein-coupled receptor for nicotinic acid. Mol Pharmacol (2001) 1.28

Long-term outcome of primary nephrotic syndrome. Arch Dis Child (1982) 1.28

Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies. Acta Neuropathol (1973) 1.27

Demonstration of laminin, a basement membrane glycoprotein, in routinely processed formalin-fixed human tissues. Histochemistry (1982) 1.27

[A glucose dehydrogenase for the determination of glucose concentrations in body fluids (author's transl)]. Z Klin Chem Klin Biochem (1975) 1.26

X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol (1988) 1.26

The temporal evolution of hypoglycemic brain damage. I. Light- and electron-microscopic findings in the rat cerebral cortex. Acta Neuropathol (1985) 1.26