Published in Am J Hum Genet on March 01, 1987
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Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. J Med Genet (1989) 1.65
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
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet (1988) 1.28
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. Am J Hum Genet (1988) 1.28
Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet (1988) 1.16
Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. Am J Hum Genet (1989) 1.02
Mutations and phenotype in isolated glycerol kinase deficiency. Am J Hum Genet (1996) 0.99
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Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am J Hum Genet (1990) 0.86
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Inborn errors of cytoplasmic triglyceride metabolism. J Inherit Metab Dis (2014) 0.82
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. Am J Hum Genet (1992) 0.80
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. Am J Hum Genet (1994) 0.79
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. J Med Genet (1994) 0.78
Congenital muscular dystrophy and severe central nervous system atrophy in two siblings. Acta Neuropathol (1995) 0.75
2012 William Allan Award: Adventures in cytogenetics. Am J Hum Genet (2013) 0.75
Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci. J Inherit Metab Dis (1999) 0.75
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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem (1983) 206.01
A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet (1984) 7.73
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
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
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
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Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62
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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
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Long-range restriction site mapping of mammalian genomic DNA. Nature (1986) 2.67
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. Am J Hum Genet (1982) 2.03
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science (1984) 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
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet (1985) 1.52
Pore protein and the hexokinase-binding protein from the outer membrane of rat liver mitochondria are identical. FEBS Lett (1982) 1.43
Evidence for identity between the hexokinase-binding protein and the mitochondrial porin in the outer membrane of rat liver mitochondria. Biochim Biophys Acta (1982) 1.33
Glycerol utilization and its regulation in mammals. Annu Rev Biochem (1977) 1.23
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis. Lancet (1985) 1.16
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol (1980) 1.15
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. Clin Genet (1985) 1.13
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. J Pediatr (1986) 1.11
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families. Hum Genet (1985) 1.09
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. Clin Genet (1986) 1.04
Familial hyperglycerolemia. J Clin Invest (1978) 1.01
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Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. Lancet (1985) 0.98
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene (1985) 0.97
The binding of glycerol kinase to the outer membrane of rat liver mitochondria: its importance in metabolic regulation. Biochem Med (1983) 0.96
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. J Med Genet (1986) 0.95
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
DNA analysis of first-trimester chorionic villous biopsies: test for maternal contamination. Am J Hum Genet (1984) 0.92
Human glycerol kinase deficiency: an inborn error of compartmental metabolism. Biochem Med (1983) 0.87
Congenital adrenal hypoplasia--an X-linked disease. J Med Genet (1970) 0.87
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. Clin Genet (1983) 0.85
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy. Hum Genet (1986) 0.85
[Pseudohypertriglyceridemia in glycerokinase deficiency]. Dtsch Med Wochenschr (1985) 0.84
1-Thioglycerol: inhibitor of glycerol kinase activity in vitro and in situ. Life Sci (1986) 0.84
Congenital X-linked adrenal hypoplasia. Obstet Gynecol (1978) 0.84
Adrenal dysfunction in glycerol kinase deficiency. Biochem Med (1985) 0.83
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. Lancet (1982) 0.83
Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia. Eur J Clin Invest (1984) 0.81
X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. Acta Paediatr Scand (1982) 0.81
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. J Pediatr (1984) 0.80
Deficiency of glycerol kinase (EC 2.7.1.30). Clin Chem (1983) 0.80
Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy. Helv Paediatr Acta (1982) 0.77
Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis. Pediatr Res (1985) 0.77
Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics. Mol Cell Biochem (1984) 0.77
Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity. Adv Exp Med Biol (1986) 0.77
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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature (1993) 21.65
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J (1987) 7.32
Femtomole sensitive radioimmunoassay for cyclic AMP and cyclic GMP after 2'0 acetylation by acetic anhydride in aqueous solution. J Cyclic Nucleotide Res (1975) 6.71
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell (1996) 5.67
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Phylogenetic relationships within cation transporter families of Arabidopsis. Plant Physiol (2001) 4.74
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Cancer Res (1985) 4.17
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
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
Radioimmunoassay of cyclic AMP and cyclic GMP. Adv Cyclic Nucleotide Res (1979) 3.54
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
IFNβ-1b may severely exacerbate Japanese optic-spinal MS in neuromyelitis optica spectrum. Neurology (2010) 3.34
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Nature (1987) 3.33
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J (1988) 3.26
Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet (1978) 3.13
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
A stoichiometric complex of neurexins and dystroglycan in brain. J Cell Biol (2001) 2.98
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet (1987) 2.90
A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet (1984) 2.82
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
Alteration of stimulus-specific guard cell calcium oscillations and stomatal closing in Arabidopsis det3 mutant. Science (2000) 2.80
Motor cortex stimulation in intact man. 2. Multiple descending volleys. Brain (1987) 2.77
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70
Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet (2000) 2.67
CDPKs - a kinase for every Ca2+ signal? Trends Plant Sci (2000) 2.66
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res (1987) 2.57
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature (1994) 2.57
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
A method of monitoring function in corticospinal pathways during scoliosis surgery with a note on motor conduction velocities. J Neurol Neurosurg Psychiatry (1986) 2.50
Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. J Exp Med (1993) 2.49
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Somat Cell Mol Genet (1987) 2.48
The effect of percutaneous motor cortex stimulation on H reflexes in muscles of the arm and leg in intact man. J Physiol (1986) 2.47
Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet (1972) 2.45
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis (2005) 2.40
Half chromatid mutations: transmission in humans? Am J Hum Genet (1975) 2.38
Abnormalities in central motor pathway conduction in multiple sclerosis. Lancet (1984) 2.30
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation (1993) 2.30
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Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Genomics (1997) 2.28
Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. J Exp Med (1995) 2.24
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Genomics (1988) 2.21
Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics (1988) 2.20
Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. EMBO J (1986) 2.19
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Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet (1998) 2.16
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Proc Natl Acad Sci U S A (1997) 2.15
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NFATx, a novel member of the nuclear factor of activated T cells family that is expressed predominantly in the thymus. Mol Cell Biol (1995) 2.13
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol (1998) 2.13
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. Genomics (1988) 2.12
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. Immunity (1998) 2.11
Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet (1989) 2.11
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.08
Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. Am J Hum Genet (1982) 2.03
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A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. Proc Natl Acad Sci U S A (1991) 1.97
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science (1984) 1.96
Cameleon calcium indicator reports cytoplasmic calcium dynamics in Arabidopsis guard cells. Plant J (1999) 1.96
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.94
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A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet (1998) 1.90
Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc Natl Acad Sci U S A (1984) 1.86
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci U S A (1986) 1.84
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Developmental and transformation-sensitive expression of the Sparc gene on mouse chromosome 11. EMBO J (1986) 1.83
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA (2001) 1.82
Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Res (1998) 1.80