(Q50482215)

14 March 2018

title

Deletion mapping of split hand/split foot malformation with hearing impairment: a case report (English)

1 reference

https://api.crossref.org/works/10.1016/S0165-5876(03)00193-9

20 March 2024

1 reference

Kunihiro Fukushima

1

1 reference

14 March 2018

Kyoko Nagai

2

1 reference

14 March 2018

Haruyo Tsukada

3

1 reference

14 March 2018

Akemi Sugata

4

1 reference

14 March 2018

Kenichi Sugata

5

1 reference

14 March 2018

Norio Kasai

6

1 reference

14 March 2018

Namiki Kibayashi

7

1 reference

14 March 2018

Yukihide Maeda

8

1 reference

14 March 2018

Mehmet Gunduz

9

1 reference

14 March 2018

Kazunori Nishizaki

10

1 reference

14 March 2018

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14550969

20 March 2024

publication date

1 October 2003

1 reference

14 March 2018

full work available at URL

https://api.elsevier.com/content/article/PII:S0165587603001939?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0165-5876(03)00193-9

https://api.elsevier.com/content/article/PII:S0165587603001939?httpAccept=text/plain

20 March 2024

1 reference

https://api.crossref.org/works/10.1016/S0165-5876(03)00193-9

International Journal of Pediatric Otorhinolaryngology

20 March 2024

published in

1 reference

14 March 2018

volume

67

1 reference

14 March 2018

issue

10

1 reference

14 March 2018

page(s)

1127-1132

1 reference

14 March 2018

Interstitial long-arm deletion of chromosome 7 and ectrodactyly

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

1994 ASHG presidential address. Who are we? Where are we going? Anticipating the 21st century

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Cloning and characterization of two members of the vertebrate Dlx gene family

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2803%2900193-9

7 January 2021

Ectrodactyly and proximal/intermediate interstitial deletion 7q

7

1 reference

https://api.crossref.org/works/10.1016/S0165-5876(03)00193-9

20 March 2024

Identifiers

1 reference

14 March 2018

1 reference

14 March 2018