Genomic analysis of primordial dwarfism reveals novel disease genes (Q37550236)

21 August 2017

Genomic analysis of primordial dwarfism reveals novel disease genes (English)

1 reference

21 August 2017

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Fowzan S Alkuraya

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1

Ranad Shaheen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Eissa Faqeih

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Shinu Ansari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Zuhair N Al-Hassnan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Tarfa Al-Shidi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Rana Alomar

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sameera Sogaty

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

3 January 2014

1 reference

21 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

291-299

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

13 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3912419/fullTextXML

inferred from PubMed Central ID database lookup

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23 August 2017

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23 August 2017

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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome

23 August 2017

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POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

23 August 2017

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The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier–Gorlin syndrome

23 August 2017

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23 August 2017

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23 August 2017

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

23 August 2017

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Novel CENPJ mutation causes Seckel syndrome

23 August 2017

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Essential roles of an intercalated disc protein, mXinbeta, in postnatal heart growth and survival

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

23 August 2017

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23 August 2017

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Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms

23 August 2017

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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The 3-M syndrome: a heritable low birthweight dwarfism

23 August 2017

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Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.

23 August 2017

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Mechanisms and pathways of growth failure in primordial dwarfism.

6 September 2017

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6 September 2017

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6 September 2017

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An xrcc4 defect or Wortmannin stimulates homologous recombination specifically induced by double-strand breaks in mammalian cells.

6 September 2017

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Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

14 September 2017

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Inviability of a DNA2 deletion mutant is due to the DNA damage checkpoint

14 September 2017

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Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

25 June 2018

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Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912419

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3912419

A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency

1 September 2018

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Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry

1 September 2018

1 reference

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Failure to Thrive: Current Clinical Concepts

1 September 2018

1 reference

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https://pubmed.ncbi.nlm.nih.gov/24389050

12 December 2020

inferred from PubMed ID database lookup

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24389050

12 December 2020

inferred from PubMed ID database lookup

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24389050

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1101/GR.160572.113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

release_wjrzsmxuqvgcnd5cyais7fbtgq

13 June 2020

Fatcat ID

1 reference

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https://api.fatcat.wiki/v0/release/wjrzsmxuqvgcnd5cyais7fbtgq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389050%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference