Molecular genetics of mineral metabolic disorders (Q35848798)

10 August 2017

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title

Molecular genetics of mineral metabolic disorders (English)

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10 August 2017

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1

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PubMed ID

1528019

10 August 2017

language of work or name

English

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National Center for Biotechnology Information

PubMed ID

1528019

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1528019

5 October 2022

publication date

1 January 1992

1 reference

Journal of Inherited Metabolic Disease

10 August 2017

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10 August 2017

15

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10 August 2017

4

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10 August 2017

592-609

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https://scigraph.springernature.com/pub.10.1007/bf01799617

10 August 2017

0 references

cites work

Familial Isolated Hypoparathyroidism

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799617

Vitamin D Metabolism and Function

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799617

Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone Disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799617

Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide

1 reference

12 December 2020

Two steps in the evolution of Antennapedia-class vertebrate homeobox genes

1 reference

12 December 2020

A Familial Syndrome of Decrease in Sensitivity to 1,25-Dihydroxyvitamin D*

1 reference

12 December 2020

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

12 December 2020

Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11.

1 reference

12 December 2020

Applications and limitations of direct DNA analysis in genetic prediction

1 reference

12 December 2020

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

1 reference

12 December 2020

Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis

1 reference

12 December 2020

Determination of a molecular map position for Hyp using a new interspecific backcross produced by in vitro fertilization

1 reference

12 December 2020

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families

1 reference

12 December 2020

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

1 reference

12 December 2020

Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism

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

1 reference

12 December 2020

Albright's hereditary osteodystrophy and defective G proteins

1 reference

12 December 2020

Serum 1,25-dihydroxyvitamin D levels in normal children and in vitamin D disorders

1 reference

12 December 2020

Molecular studies of DiGeorge syndrome

1 reference

12 December 2020

Pseudo Vitamin D Deficiency Rickets: Report of Four New Cases

1 reference

12 December 2020

A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts

1 reference

12 December 2020

Gene for parathyroid hormone-like peptide is on mouse chromosome 6

1 reference

12 December 2020

Gene mapping of mineral metabolic disorders

1 reference

12 December 2020

Steroid hormone action in eucaryotic cells

1 reference

12 December 2020

Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes

1 reference

12 December 2020

1 reference

12 December 2020

True idiopathic hypoparathyroidism as a sexlinked recessive trait

1 reference

12 December 2020

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

1 reference

12 December 2020

Defect of Receptor–Cyclase Coupling Protein in Pseudohypoparathyroidism

1 reference

12 December 2020

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

1 reference

12 December 2020

Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14

1 reference

12 December 2020

Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets

1 reference

12 December 2020

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

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

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone

1 reference

12 December 2020

Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

1 reference

12 December 2020

10 Multiple endocrine neoplasia

1 reference

12 December 2020

Vitamin D-dependent rickets type I in pigs

1 reference

12 December 2020

Specific chromosomal abnormalities in malignant human gliomas.

1 reference

12 December 2020

A genetic model for colorectal tumorigenesis

1 reference

12 December 2020

The diagnosis and management of the various types of rickets

1 reference

12 December 2020

Deletion of genes on chromosome 1 in endocrine neoplasia

1 reference

12 December 2020

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

1 reference

12 December 2020

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

1 reference

12 December 2020

Restriction fragment length polymorphisms at the human parathyroid hormone gene locus

1 reference

12 December 2020

Vitamin D dependency: Replacement therapy with calcitriol

1 reference

12 December 2020

The William Allan Memorial Award address: Reverse genetics and beyond

1 reference

12 December 2020

Subcellular fractionation of dystrophin to the triads of skeletal muscle

1 reference

12 December 2020

A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression

1 reference

12 December 2020

Characterization of the human parathyroid hormone-like peptide gene. Functional and evolutionary aspects

1 reference

12 December 2020

Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy

1 reference

12 December 2020

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

1 reference

12 December 2020

Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.

1 reference

12 December 2020

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

1 reference

12 December 2020

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

1 reference

12 December 2020

Molecular cloning of complementary DNA encoding the avian receptor for vitamin D.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and characterization of the human parathyroid hormone-like peptide gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Nuclear uptake of 1,25-dihydroxy[3H]cholecalciferol in dispersed fibroblasts cultured from normal human skin

1 reference

12 December 2020

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies

1 reference

12 December 2020

Heredity and cancer in man.

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

End-organ resistance to 1,25-dihydroxycholecalciferol

1 reference

12 December 2020

Humoral hypercalcemia of cancer. Identification of a novel parathyroid hormone-like peptide

1 reference

12 December 2020

Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799617

1 reference

10 August 2017

1 reference

PubMed ID

1528019