Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. (Q35889320)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

review article

1 reference

title

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

Scherer SW

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Poorkaj P

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Allen T

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Kim J

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Geshuri D

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Nunes M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Soder S

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Stephens K

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Pagon RA

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Patton MA

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

language of work or name

English

0 references

publication date

1 July 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

23 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

12-20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region

23 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Human laminin B1 chain. A multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Cloning and sequence analysis of cDNA for human argininosuccinate lyase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Human plasminogen activator inhibitor-1 gene. Promoter and structural gene nucleotide sequences

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Distinct forms of the beta subunit of GTP-binding regulatory proteins identified by molecular cloning

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Interstitial long-arm deletion of chromosome 7 and ectrodactyly

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Chromosome 7 long arm deletion breakpoints in preleukemia: mapping by pulsed field gel electrophoresis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Linkage of DNA probe B79a (D7S13) to cystic fibrosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Isolation of human cDNAs for asparagine synthetase and expression in Jensen rat sarcoma cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Ectro-amelia syndrome associated with an interstitial deletion of 7q.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Regional localization of the hepatocyte growth factor (HGF) gene to human chromosome 7 band q21.1

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Characterization of cDNA clones encoding rabbit and human serum paraoxonase: the mature protein retains its signal sequence

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Closure of a genetic linkage map of human chromosome 7q with centromere and telomere polymorphisms

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Mapping the human acetylcholinesterase gene to chromosome 7q22 by fluorescent in situ hybridization coupled with selective PCR amplification from a somatic hybrid cell panel and chromosome-sorted DNA libraries

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

The human PAX6 gene is mutated in two patients with aniridia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Human CCAAT displacement protein is homologous to the Drosophila homeoprotein, cut

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918243

[Interstitial deletion of the long arm of chromosome 7 and its clinical correlations]

22 October 2018

1 reference

12 December 2020

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

12 December 2020

Regional localization of the intestinal mucin gene MUC3 to chromosome 7q22

1 reference

12 December 2020

A Recessive Form of Ectrodactyly, and its Implications in Genetic Counseling

1 reference

12 December 2020

Split-hand and split-foot deformity inherited as an autosomal recessive trait

1 reference

12 December 2020

Malformations due to presumed spontaneous mutations in newborn infants

1 reference

12 December 2020

Deletion of 7q22 and ectrodactyly

1 reference

12 December 2020

Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

1 reference

12 December 2020

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

12 December 2020

Inverted insertion of chromosome 7q and ectrodactyly

1 reference

12 December 2020

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization

1 reference

12 December 2020

Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993

1 reference

12 December 2020

EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3)

1 reference

12 December 2020

Ectrodactyly--evidence in favour of a disturbed segregation in the offspring of affected males

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023840%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference