(Q24539037)

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Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

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Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43 (English)

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congenital disorder

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hypoparathyroidism

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based on heuristic

inferred from title

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based on heuristic

inferred from title

linkage disequilibrium

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based on heuristic

inferred from title

Eli Hershkovitz

object named as

E Hershkovitz

2

author given names

E

author last names

Hershkovitz

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PubMed publication ID

20 October 2023

author name string

R Parvari

1

author given names

R

author last names

Parvari

1 reference

PubMed publication ID

20 October 2023

A Kanis

3

author given names

A

author last names

Kanis

1 reference

PubMed publication ID

20 October 2023

R Gorodischer

4

author given names

R

author last names

Gorodischer

1 reference

PubMed publication ID

20 October 2023

S Shalitin

5

author given names

S

author last names

Shalitin

1 reference

PubMed publication ID

20 October 2023

V C Sheffield

6

author given names

V C

author last names

Sheffield

1 reference

PubMed publication ID

20 October 2023

R Carmi

7

author given names

R

author last names

Carmi

1 reference

PubMed publication ID

20 October 2023

language of work or name

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publication date

July 1998

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American Journal of Human Genetics

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63

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1

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163-9

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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

Positional cloning of the APECED gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

24 March 2017

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

7 April 2017

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

7 April 2017

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

7 April 2017

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Calcium-ion-sensing cell-surface receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Novel approaches to linkage mapping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Hypocalcemia from deficiency of and resistance to parathyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Short stature, mental retardation, and hypoparathyroidism: a new syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

27 September 2017

Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

30 May 2018

Autosomal dominant hypoparathyroidism with variable, age-dependent severity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

29 November 2018

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377236

29 November 2018

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634513

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634513

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the Rab Escort Protein-2 (REP2) and Inositol 1,4,5-Trisphosphate 3-Kinase (ITPKB) Genes to Mouse Chromosome 1 byin SituHybridization and Precision of the Syntenic Regions between Mouse and Human 1q42–q44

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634513

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital familial hypoparathyroidism. Management of an infant, genetics, pathogenesis of hypoparathyroidism, and fetal undermineralization

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634513

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634513

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634513

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_yx2t2gpkffhxfitbcghgcvsgxm

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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