Gene mapping of mineral metabolic disorders (Q38714674)

5 September 2017

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title

Gene mapping of mineral metabolic disorders. (English)

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5 September 2017

1

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5 September 2017

Davies KE

2

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PubMed ID

2681997

5 September 2017

O'Riordan JL

series ordinal

3

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5 September 2017

1 January 1989

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Journal of Inherited Metabolic Disease

5 September 2017

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5 September 2017

12 Suppl 1

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5 September 2017

231-246

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https://scigraph.springernature.com/pub.10.1007/bf01799298

5 September 2017

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cites work

Oculo-cerebro-renal syndrome. A review

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Crossref

https://api.crossref.org/works/10.1007%2FBF01799298

Familial Isolated Hypoparathyroidism

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799298

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

21 January 2018

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12 December 2020

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

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12 December 2020

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

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12 December 2020

Chromosome maps of man and mouse II

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12 December 2020

Molecular genetics of the human X chromosome

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12 December 2020

Applications and limitations of direct DNA analysis in genetic prediction

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12 December 2020

Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe

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12 December 2020

Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

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12 December 2020

Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type 1

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12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

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12 December 2020

Human parathyroid hormone gene (PTH) is on short arm of chromosome 11

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12 December 2020

Familial hypophosphatemia with vitamin D-resistant rickets. II: three additional kindreds of the sex-linked dominant type with a genetic analysis of four such families

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12 December 2020

Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism

1 reference

12 December 2020

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

1 reference

12 December 2020

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

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12 December 2020

Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia.

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12 December 2020

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

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12 December 2020

Absent factor VIII response to synthetic vasopressin analogue (DDAVP) in nephrogenic diabetes insipidus

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12 December 2020

True idiopathic hypoparathyroidism as a sexlinked recessive trait

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12 December 2020

VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

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12 December 2020

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

1 reference

12 December 2020

Sequential tests for the detection of linkage

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12 December 2020

Bridging markers defining the map position of X linked hypophosphataemic rickets.

1 reference

12 December 2020

Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia

1 reference

12 December 2020

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome

1 reference

12 December 2020

Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred

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12 December 2020

Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms

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12 December 2020

[Autosomal dominant transmission of familial idiopathic hypoparathyroidism]

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12 December 2020

Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings

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12 December 2020

Deletion of genes on chromosome 1 in endocrine neoplasia

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12 December 2020

Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour

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12 December 2020

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

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12 December 2020

Restriction fragment length polymorphisms at the human parathyroid hormone gene locus

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12 December 2020

The William Allan Memorial Award address: Reverse genetics and beyond

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12 December 2020

Subcellular fractionation of dystrophin to the triads of skeletal muscle

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12 December 2020

Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism

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12 December 2020

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

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12 December 2020

The oculo-cerebro-renal syndrome of Lowe in four generations of one family

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12 December 2020

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.

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12 December 2020

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

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12 December 2020

The Gy mutation: another cause of X-linked hypophosphatemia in mouse

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12 December 2020

Mechanisms and evolutionary origins of variable X-chromosome activity in mammals

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12 December 2020

A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

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12 December 2020

Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: Evidence for a defect in the brush border membrane

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12 December 2020

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

1 reference

12 December 2020

Heredity and cancer in man.

1 reference

12 December 2020

Construction of linkage maps with DNA markers for human chromosomes.

1 reference

12 December 2020

Inherited forms of rickets and osteomalacia

1 reference

12 December 2020

Prediction of familial predisposition to retinoblastoma

1 reference

12 December 2020

In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22

1 reference

12 December 2020

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets

1 reference

12 December 2020

Familial hypomagnesemia. Biochemical, histological and hereditary aspects studied in two brothers

1 reference

12 December 2020

Lowe's syndrome: identification of carriers by lens examination

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12 December 2020

A new familial disorder characterized by hypokalemia and hypomagnesemia

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799298

1 reference

PubMed ID

2681997

Dimensions Publication ID

5 September 2017

0 references

1 reference

PubMed ID

2681997