(Q45345384)

English

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

scientific article published on 21 November 2006

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

based on heuristic

inferred from title

Hossein Najmabadi

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Farkhondeh Behjati

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Masoud Garshasbi

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Franz Rüschendorf

19

object named as

Franz Rüschendorf

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

author name string

Mohammad Mahdi Motazacker

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Andreas Tzschach

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Valeh Hadavi

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Sahar Esmaeeli Nieh

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Seyedeh Sedigheh Abedini

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Reza Vazifehmand

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Saghar Ghasemi Firouzabadi

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Payman Jamali

13

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Seyed Morteza Seifati

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Annette Grüters

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Steffen Lenzner

17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Lars R Jensen

18

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Andreas W Kuss

20

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

H Hilger Ropers

21

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

publication date

21 November 2006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

121

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

43-48

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

https://scigraph.springernature.com/pub.10.1007/s00439-006-0292-0

0 references

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0292-0

21 January 2018

Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0292-0

21 January 2018

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The epidemiology of mental retardation: challenges and opportunities in the new millennium

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significance levels in complex inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic genome profiling in mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation: many genes for a complex disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of microcephalin, a protein implicated in determining the size of the human brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An approach to genetic factors in mental retardation. Studies of families containing at least two siblings admitted to a state institution for the retarded.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsyndromic X-linked mental retardation: where are the missing mutations?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and comparative genetics of mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large-scale genotyping of complex DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic causes of hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of families with two or more mentally defective siblings; clinical observations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17120046

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0292-0

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17120046%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q45345384&oldid=2041766260"