(Q42550917)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

case report

0 references

title

Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

cleft lip with or without cleft palate

26 December 2019

main subject

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Jlenia Marchesini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Anna Savoia

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

6

Furio Pezzetti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

7

Francesco Carinci

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

8

Annalisa Palmieri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1

Marcella Martinelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

9

Paolo Carinci

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

Mariateresa Di Stazio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Filomena Di Bari

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

language of work or name

English

0 references

publication date

2 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

26 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

page(s)

387-392

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate.

26 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Orofacial clefting: recent insights into a complex trait

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Actin-myosin-based contraction is responsible for apoptotic nuclear disintegration

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Recent developments in orofacial cleft genetics

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Myosins: a diverse superfamily

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Transcriptional regulation of the human nonmuscle myosin II heavy chain-A gene. Identification of three clustered cis-elements in intron-1 which modulate transcription in a cell type- and differentiation state-dependent manner

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Coordination of protrusion and translocation of the keratocyte involves rolling of the cell body

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Transforming growth factor-beta 3 is required for secondary palate fusion

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

An extended transmission/disequilibrium test (TDT) for multi-allele marker loci.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

The genetics of cleft lip and cleft palate

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Medial edge epithelium transforms to mesenchyme after embryonic palatal shelves fuse

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Death is the major fate of medial edge epithelial cells and the cause of basal lamina degradation during palatogenesis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Pedigree disequilibrium tests for multilocus haplotypes.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Programmed cell death is required for palate shelf fusion and is regulated by retinoic acid

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6)

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Cleft Lip and Palate versus Cleft Lip Only: Are They Distinct Defects?

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Phenotypic diversity, allelic series and modifier genes

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740885

Medial edge epithelial cell fate during palatal fusion

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17337617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GOLD--graphical overview of linkage disequilibrium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17337617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mouse embryonic palatal epithelial sheets in culture: an immunocytochemical study of proliferative activity using bromodeoxyuridine

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17337617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.047837

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17337617%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference