(Q47176954)

http://europepmc.org/abstract/MED/29302074

11 January 2018

title

Genetics of intellectual disability in consanguineous families (English)

1 reference

http://europepmc.org/abstract/MED/29302074

11 January 2018

main subject

disability

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Farzaneh Larti

10

1 reference

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2 June 2020

Behzad Davarnia

28

1 reference

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2 June 2020

Milad Bastami

34

1 reference

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2 June 2020

Vera M. Kalscheuer

48

1 reference

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2 June 2020

Morteza Oladnabi

49

1 reference

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2 June 2020

author name string

Hao Hu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Luciana Musante

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Zohreh Fattahi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Ralf Herwig

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Masoumeh Hosseini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Cornelia Oppitz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Seyedeh Sedigheh Abedini

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Vanessa Suckow

9

1 reference

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2 June 2020

Maryam Beheshtian

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Bettina Lipkowitz

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Tara Akhtarkhavari

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sepideh Mehvari

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sabine Otto

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Marzieh Mohseni

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sanaz Arzhangi

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Payman Jamali

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Faezeh Mojahedi

19

1 reference

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2 June 2020

Maryam Taghdiri

20

1 reference

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2 June 2020

Elaheh Papari

21

1 reference

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2 June 2020

Mohammad Javad Soltani Banavandi

22

1 reference

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2 June 2020

Saeide Akbari

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Seyed Hassan Tonekaboni

24

1 reference

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2 June 2020

Hossein Dehghani

25

1 reference

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2 June 2020

Mohammad Reza Ebrahimpour

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Ingrid Bader

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Monika Cohen

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Hossein Khodaei

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Beate Albrecht

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sarah Azimi

32

1 reference

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2 June 2020

Birgit Zirn

33

1 reference

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2 June 2020

Dagmar Wieczorek

35

1 reference

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2 June 2020

Gholamreza Bahrami

36

1 reference

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2 June 2020

Krystyna Keleman

37

1 reference

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2 June 2020

Leila Nouri Vahid

38

1 reference

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2 June 2020

Andreas Tzschach

39

1 reference

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2 June 2020

Jutta Gärtner

40

1 reference

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2 June 2020

Gabriele Gillessen-Kaesbach

41

1 reference

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2 June 2020

Jamileh Rezazadeh Varaghchi

42

1 reference

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2 June 2020

Bernd Timmermann

43

1 reference

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2 June 2020

Fatemeh Pourfatemi

44

1 reference

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2 June 2020

Aria Jankhah

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Wei Chen

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Pooneh Nikuei

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Thomas F Wienker

50

1 reference

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2 June 2020

Hans-Hilger Ropers

51

1 reference

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2 June 2020

Hossein Najmabadi

52

1 reference

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2 June 2020

language of work or name

English

0 references

publication date

4 January 2018

1 reference

http://europepmc.org/abstract/MED/29302074

11 January 2018

published in

Molecular Psychiatry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

1027-1039

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29302074%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/s41380-017-0012-2

2 June 2020

exact match

0 references

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability

21 January 2018

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A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

21 January 2018

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https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

21 January 2018

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Neural development is dependent on the function of specificity protein 2 in cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

GOA, a novel gene encoding a ring finger B-box coiled-coil protein, is overexpressed in astrocytoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Histone H3 lysine methylation in cognition and intellectual disability disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

PRC2 mediated H3K27 methylations in cellular identity and cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Neuropeptide Y (NPY) cleaving enzymes: structural and functional homologues of dipeptidyl peptidase 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

TNiK is required for postsynaptic and nuclear signaling pathways and cognitive function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Characterization of the proteome, diseases and evolution of the human postsynaptic density.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

How obedience of marriage rules may counteract genetic drift

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

New perspectives for the elucidation of genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

A flexible ratio regression approach for zero-truncated capture-recapture counts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41380-017-0012-2