Menkes disease: Underlying genetic defect and new diagnostic possibilities

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

1993 • 1,905 citations

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

1993 • 1,395 citations

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

1993 • 1,345 citations

The metabolic basis of inherited disease

1995 • 1,007 citations

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.

1962 • 839 citations

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1993 • 720 citations

Isolation of a partial candidate gene for Menkes disease by positional cloning

1993 • 690 citations

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.

1996 • 623 citations

Isolation and Characterization of a Human Liver cDNA as a Candidate Gene for Wilson Disease

1993 • 501 citations

MENKES' KINKY-HAIR SYNDROME

1972 • 418 citations

Bacteriotherapy for chronic relapsing Clostridium difficile in six patients

1989 • 291 citations

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1994 • 259 citations

N-terminal Domains of Human Copper-transporting Adenosine Triphosphatases (the Wilson's and Menkes Disease Proteins) Bind Copper Selectively in Vivo and in Vitro with Stoichiometry of One Copper Per Metal-binding Repeat

1997 • 237 citations

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1992 • 212 citations

Disorders of copper transport

1995 • 195 citations

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1995 • 132 citations

COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASE

1976 • 128 citations

Diverse mutations in patients with Menkes disease often lead to exon skipping.

1994 • 123 citations

Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network

1997 • 120 citations

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

1983 • 105 citations

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

1997 • 100 citations

Molecular Structure of the Menkes Disease Gene (ATP7A)

1995 • 95 citations

Menkes syndrome in a girl with X‐autosome translocation

1987 • 95 citations

Menkes disease: recent advances and new aspects.

1997 • 94 citations

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1995 • 90 citations

Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease

1999 • 75 citations

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

1992 • 64 citations

Menkes X‐linked disease: Prenatal diagnosis of hemizygous males and heterozygous females

1981 • 56 citations

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome

1996 • 52 citations

Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

1991 • 51 citations

Menkes' X‐linked disease: Prenatal diagnosis and carrier detection

1983 • 39 citations

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

1994 • 35 citations

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization

1994 • 32 citations

Clinical expression of Menkes syndrome in females

1990 • 31 citations

Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease

1992 • 31 citations

AN AUTOPSY CASE OF MENKES KINKY HAIR DISEASE

1978 • 25 citations

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

1994 • 18 citations

Vlenkes Kinky Hair Syndrome; Report on an Autopsy Case and His Female Sibling with Similar Clinical Manifestations

1979 • 14 citations

Prenatal Diagnosis of Menkes’ Syndrome by Direct Copper Analysis of Trophoblastic Tissue

1985 • 12 citations

Possibility of a menkes‐like disorder of copper metabolism in a girl

1983 • 11 citations

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

1993 • 10 citations

Two highly polymorphic CA repeats in the Menkes gene (ATP7A)

1995 • 10 citations