Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1986 • 468 citations

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

1985 • 456 citations

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

1985 • 455 citations

Glycerol Utilization and its Regulation in Mammals

1977 • 429 citations

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1985 • 390 citations

Report of the committee on the genetic constitution of the X and Y chromosomes

1985 • 369 citations

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

1985 • 368 citations

A strategy to reveal high-frequency RFLPs along the human X chromosome.

1984 • 361 citations

Report of the committee on human gene mapping by recombinant DNA techniques

1984 • 274 citations

Evidence for identity between the hexokinase-binding protein and the mitochondrial porin in the outer membrane of rat liver mitochondria

1982 • 254 citations

Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomes

1978 • 248 citations

Pore protein and the hexokinase‐binding protein from the outer membrane of rat liver mitochondria are identical

1982 • 222 citations

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

1985 • 217 citations

Long-range restriction site mapping of mammalian genomic DNA

1986 • 194 citations

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome

1986 • 152 citations

A radiochemical enzymatic activity assay for glycerol kinase and hexokinase

1967 • 130 citations

Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus

1984 • 126 citations

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele

1984 • 119 citations

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

1980 • 96 citations

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

1985 • 86 citations

Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14.

1982 • 78 citations

The binding of glycerol kinase to the outer membrane of rat liver mitochondria: Its importance in metabolic regulation

1983 • 77 citations

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

1977 • 76 citations

High-resolution ideograms of trypsin-Giemsa banded human chromosomes

1981 • 67 citations

Human glycerol kinase deficiency: An inborn error of compartmental metabolism

1983 • 63 citations

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1986 • 62 citations

PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS

1985 • 57 citations

Familial hyperglycerolemia.

1978 • 56 citations

Congenital adrenal hypoplasia--an X-linked disease.

1970 • 56 citations

CONCORDANCE OF X-LINKED GLYCEROL KINASE DEFICIENCY WITH X-LINKED CONGENITAL ADRENAL HYPOPLASIA

1982 • 55 citations

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

1985 • 50 citations

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs

1983 • 47 citations

DELETION ON THE X CHROMOSOME DETECTED BY DIRECT DNA ANALYSIS IN ONE OF TWO UNRELATED BOYS WITH GLYCEROL KINASE DEFICIENCY, ADRENAL HYPOPLASIA, AND DUCHENNE MUSCULAR DYSTROPHY

1986 • 44 citations

‘Pseudohypertriglyceridemia’ caused by hyperglycerolemia due to congenital enzyme deficiency

1982 • 38 citations

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

1984 • 38 citations

Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.

1986 • 37 citations

Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci

1985 • 36 citations

Deficiency of glycerol kinase (EC 2.7.1.30).

1983 • 29 citations

DNA analysis of first-trimester chorionic villous biopsies: test for maternal contamination.

1984 • 27 citations

Adrenal dysfunction in glycerol kinase deficiency

1985 • 26 citations

Congenital X-linked adrenal hypoplasia.

1978 • 25 citations

X‐LINKED CONGENITAL ADRENAL HYPOPLASIA A Study of Five Generations of a Greenlandic Family

1982 • 23 citations

Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy

1986 • 18 citations

Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia

1984 • 15 citations

Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics

1984 • 15 citations

Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy.

1982 • 13 citations

1-thioglycerol: Inhibitor of glycerol kinase activity in vitro and in situ

1986 • 12 citations

Pseudo-Hypertriglyceridämie bei Glycerokinase-Mangel

2008 • 12 citations

Glycerol Kinase Deficiency: Compartmental Considerations Regarding Pathogenesis and Clinical Heterogeneity

1986 • 10 citations

Glycerol Kinase Deficiency Inhibits Glycerol Utilization in Phosphoglyceride and Triacylglycerol Biosynthesis

1985 • 6 citations