(Q37099823)

English

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

scientific article published on 16 July 2016

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27421267%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27421267%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Periklis Makrythanasis

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27421267%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Federico A Santoni

3

1 reference

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18 March 2020

4

1 reference

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18 March 2020

5

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18 March 2020

6

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18 March 2020

author name string

Michel Guipponi

2

1 reference

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18 March 2020

Hanan Hamamy

7

1 reference

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18 March 2020

Stylianos E Antonarakis

8

1 reference

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18 March 2020

publication date

16 July 2016

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18 March 2020

1 reference

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18 March 2020

10

1 reference

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18 March 2020

1

1 reference

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18 March 2020

26

1 reference

Europe PubMed Central

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18 March 2020

https://scigraph.springernature.com/pub.10.1186/s40246-016-0082-2

0 references

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Genetic studies in intellectual disability and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

CATCHing putative causative variants in consanguineous families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Elimination of Kalrn expression in POMC cells reduces anxiety-like behavior and contextual fear learning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Nonenzymatic domains of Kalirin7 contribute to spine morphogenesis through interactions with phosphoinositides and Abl

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

The Rho-GEF Kalirin regulates bone mass and the function of osteoblasts and osteoclasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Abnormal kalirin signaling in neuropsychiatric disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Genetics of recessive cognitive disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

The mouse Gene Expression Database (GXD): 2014 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Neuronal Rho GEFs in synaptic physiology and behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Kalrn plays key roles within and outside of the nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Long-term perturbation of spine plasticity results in distinct impairments of cognitive function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Kalirin, a key player in synapse formation, is implicated in human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Emerging major synaptic signaling pathways involved in intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Kalirin-7, an important component of excitatory synapses, is regulated by estradiol in hippocampal neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Kalirin loss results in cortical morphological alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Kalirin regulates cortical spine morphogenesis and disease-related behavioral phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Kalirin is under-expressed in Alzheimer's disease hippocampus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Genetic disorders in the Arab world

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Rho GTPases, dendritic structure, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Rho proteins, mental retardation and the cellular basis of cognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Predicting deleterious amino acid substitutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

Dendritic anomalies in disorders associated with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

14 September 2017

A null mutation in TNIK defines a novel locus for intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

29 September 2017

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

29 September 2017

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

27 June 2018

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

Structural organization of the nine spectrin repeats of Kalirin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

Autonomous functions for the Sec14p/spectrin-repeat region of Kalirin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947303

3 September 2018

CREB up-regulates long non-coding RNA, HULC expression through interaction with microRNA-372 in liver cancer

1 reference

https://api.crossref.org/works/10.1186%2FS40246-016-0082-2

21 January 2018

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

1 reference

https://api.crossref.org/works/10.1186%2FS40246-016-0082-2

21 January 2018

Consanguinity and recurrence risk of birth defects: a population-based study

1 reference

https://pubmed.ncbi.nlm.nih.gov/27421267

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S40246-016-0082-2

1 reference

Europe PubMed Central

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18 March 2020

Dimensions Publication ID

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Europe PubMed Central

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18 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27421267%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

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