(Q24672979)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

S E Palmer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

S W Scherer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M Kukolich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

E M Wijsman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

L C Tsui

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

K Stephens

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

J P Evans

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 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:7912888%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

21-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

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

28 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=1918225

The GDB human genome data base anno 1993

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

EEC syndrome: report on 20 new patients, clinical and genetic considerations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

A second-generation linkage map of the human genome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

Interstitial long-arm deletion of chromosome 7 and ectrodactyly

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

A genetic linkage map of human chromosome 5 with 60 RFLP loci

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

Another case of split-foot mutation in two sibs.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

Present nosology of the Cenani-Lenz type of syndactyly

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918225

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

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of 7q22 and ectrodactyly

1 reference

12 December 2020

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations

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

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

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7912888%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

PubMed publication ID

7912888

1 reference