Mutations and phenotype in isolated glycerol kinase deficiency.

Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis (2000) 1.08

Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait. Am J Hum Genet (2000) 0.96

Conserved family of glycerol kinase loci in Drosophila melanogaster. Mol Genet Metab (2006) 0.91

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. J Med Genet (2000) 0.89

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. J Med Genet (1998) 0.83

Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11. J Med Genet (1999) 0.75

An unusual case of (pseudo)hypertriglyceridaemia. NDT Plus (2010) 0.75

A catalogue of splice junction sequences. Nucleic Acids Res (1982) 39.41

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res (1989) 9.04

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet (1992) 8.20

Transcription of the dystrophin gene in human muscle and non-muscle tissue. Nature (1988) 7.00

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60

Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci U S A (1989) 4.21

Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs. Nucleic Acids Res (1987) 3.05

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature (1994) 2.57

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature (1994) 2.49

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet (1987) 1.72

Nonsense mutations and diminished mRNA levels. Nat Genet (1993) 1.34

Isolation of the human Xp21 glycerol kinase gene by positional cloning. Hum Mol Genet (1993) 1.34

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue. Hum Mol Genet (1993) 1.16

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol (1980) 1.15

Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization? J Clin Invest (1992) 1.06

Familial hyperglycerolemia. J Clin Invest (1978) 1.01

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun (1977) 0.95

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency. Clin Chim Acta (1982) 0.94

Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet (1993) 0.94

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. Am J Dis Child (1987) 0.94

The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons. Hum Mol Genet (1994) 0.94

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes. Hum Mol Genet (1992) 0.86

Mental retardation locus in Xp21 chromosome microdeletion. Am J Med Genet (1993) 0.85

[Pseudohypertriglyceridemia in glycerokinase deficiency]. Dtsch Med Wochenschr (1985) 0.84

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. Am J Med Genet (1988) 0.84

Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia. Eur J Clin Invest (1984) 0.81

Deficiency of glycerol kinase (EC 2.7.1.30). Clin Chem (1983) 0.80

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. J Pediatr (1984) 0.80

Isolated glycerol kinase deficiency in a neonate. J Child Neurol (1994) 0.79

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

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

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

A forkhead-domain gene is mutated in a severe speech and language disorder. Nature (2001) 9.25

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet (1998) 7.68

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature (1986) 6.34

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet (1999) 6.23

Studies on heterologous anti-lymphocyte serum in mice. I. In vitro and in vivo properties. J Immunol (1966) 5.59

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50

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

Somatic mutations of the beta-catenin gene are frequent in mouse and human hepatocellular carcinomas. Proc Natl Acad Sci U S A (1998) 4.99

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci U S A (1997) 4.73

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62

Studies on heterologous anti-lymphocyte serum in mice. II. Effect on the immune response. J Immunol (1966) 4.49

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

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell (1993) 4.13

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet (2002) 4.00

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet (2001) 3.77

Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons. Neuron (1999) 3.69

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet (1993) 3.63

A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet (1993) 3.58

An improved method for isolation of mouse pancreatic islets. Transplantation (1985) 3.52

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry (2007) 3.49

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet (1998) 3.33

Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet (1998) 3.30

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell (1998) 3.09

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet (2000) 2.96

The UTX gene escapes X inactivation in mice and humans. Hum Mol Genet (1998) 2.91

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc Natl Acad Sci U S A (1991) 2.89

Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet (1997) 2.82

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet (1987) 2.64

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature (1994) 2.57

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet (1998) 2.52

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44

Adult Thymectomy: Effect on Recovery from Immunologic Depression in Mice. Science (1965) 2.41

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet (1997) 2.40

A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am J Hum Genet (1999) 2.38

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature (1998) 2.36

Localisation of a gene implicated in a severe speech and language disorder. Nat Genet (1998) 2.33

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet (1997) 2.33

Influence of rejection therapy on fungal and nocardial infections in renal-transplant recipients. Lancet (1973) 2.22

Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries. Proc Natl Acad Sci U S A (1991) 2.21

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

Reproducible high yield of rat islets by stationary in vitro digestion following pancreatic ductal or portal venous collagenase injection. Transplantation (1987) 2.14

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12

MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10

Non-syndromic, autosomal-recessive deafness. Clin Genet (2006) 2.08

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood (1999) 2.07

A novel putative receptor protein tyrosine kinase of the met family. Oncogene (1993) 2.06

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics (1991) 1.99

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis (2006) 1.98

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med (1992) 1.95

Pulmonary nocardiosis. Therapy with minocycline and with erythromycin plus ampicillin. JAMA (1973) 1.94

Complete coverage of the Schizosaccharomyces pombe genome in yeast artificial chromosomes. Nat Genet (1992) 1.93

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

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

Inflammation markers in relation to cognition in a healthy aging population. J Neuroimmunol (2003) 1.89

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet (1997) 1.88

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem (1988) 1.88

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology (2005) 1.85

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem (1984) 1.84

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet (1994) 1.84

Possible active enhancement of a human cadaver renal allograft with antilymphocyte serum (ALS) and donor bone marrow: case report of an initial attempt. Surgery (1976) 1.84

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem (1988) 1.83

Antiserum to lymphocytes: prolonged survival of canine renal allografts. Science (1966) 1.81

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet (1997) 1.79

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet (2005) 1.78

Two hundred one consecutive living-donor nephrectomies. Arch Surg (1998) 1.75

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. J Med Genet (2005) 1.74

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab (2000) 1.71

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69

A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet (2001) 1.69

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet (1994) 1.68

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68

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

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behav Genet (2010) 1.67

A new family with the Townes-Brocks syndrome. Clin Genet (1988) 1.66

Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (1987) 1.66

Analysis of the human VPS13 gene family. Genomics (2004) 1.65

In vitro and in vivo estrogenicity of UV screens. Environ Health Perspect (2001) 1.65

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet (1999) 1.65

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A (1986) 1.65

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromuscul Disord (1991) 1.65

Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell (1994) 1.65

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet (1995) 1.64

Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet (1998) 1.63

FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet (2002) 1.63

Some effects of purified heterologous antihuman lymphocyte serum in man. Transplantation (1967) 1.62

Mitochondrial deafness. Clin Genet (2007) 1.61