Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen (Q28513404)

24 June 2017

title

Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen (English)

1 reference

SRY (sex determining region Y)-box 4

24 June 2017

main subject

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GOA release 2020-03-11

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14

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24 June 2017

3

Jennifer Davies

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24 June 2017

Paul Denny

21

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Shoumo Bhattacharya

object named as

Shoumo Bhattacharya

12

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Paul T Sharpe

object named as

Paul T Sharpe

19

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author name string

Debora Bogani

1

1 reference

24 June 2017

Catherine Willoughby

2

1 reference

24 June 2017

Kulvinder Kaur

4

1 reference

24 June 2017

Ghazala Mirza

5

1 reference

24 June 2017

Anju Paudyal

6

1 reference

24 June 2017

Heather Haines

7

1 reference

24 June 2017

Richard McKeone

8

1 reference

24 June 2017

Matthew Cadman

9

1 reference

24 June 2017

Guido Pieles

10

1 reference

24 June 2017

Andrea Hardy

13

1 reference

24 June 2017

Nikos Tripodis

15

1 reference

24 June 2017

Ramya Chandrasekara

17

1 reference

24 June 2017

Gimara Duncan

18

1 reference

24 June 2017

Andy Greenfield

20

1 reference

24 June 2017

Jürgen E Schneider

11

1 reference

24 June 2017

Michael J Depew

16

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24 June 2017

Steve D M Brown

22

1 reference

24 June 2017

Jiannis Ragoussis

23

1 reference

24 June 2017

Ruth M Arkell

24

1 reference

24 June 2017

language of work or name

English

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publication date

18 August 2005

1 reference

Proceedings of the National Academy of Sciences of the United States of America

24 June 2017

number of pages

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

24 June 2017

volume

102

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24 June 2017

issue

35

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24 June 2017

page(s)

12477-12482

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New semidominant mutations that affect mouse development

24 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Functional genetic analysis of mouse chromosome 11

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Genetic variation in the 22q11 locus and susceptibility to schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Human studies of prepulse inhibition of startle: normal subjects, patient groups, and pharmacological studies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Congenital abnormalities of body patterning: embryology revisited

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

A gene-driven approach to the identification of ENU mutants in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Functional annotation of mammalian genomic DNA sequence by chemical mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Ring chromosome 6: report of a patient and literature review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Saturation germ line mutagenesis of the murine t region including a lethal allele at the quaking locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Partial deletion of chromosome 6p: delineation of the syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

A procedure for differential staining of cartilage and bone in whole formalin-fixed vertebrates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Delineation of two distinct 6p deletion syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Holoprosencephaly: a paradigm for the complex genetics of brain development

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

2 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500584102

Forkhead transcription factor Foxf2 (LUN)-deficient mice exhibit abnormal development of secondary palate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500584102

Genetic, physical, and phenotypic characterization of the Del(13)Svea36H mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500584102

Fast, high-resolution in vivo cine magnetic resonance imaging in normal and failing mouse hearts on a vertical 11.7 T system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500584102

Course of psychopathology, cognition and neurobiological abnormality in schizophrenia: developmental origins and amelioration by antipsychotics?

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500584102

Continuing the search for dyslexia genes on 6p.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1194901

Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention-deficit/hyperactivity disorder

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16109771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0500584102

1 reference

24 June 2017

0 references

0 references

1 reference