Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q77848668)
Watch
English
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization
scientific article published on 01 May 1999
In more languages
default for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
title
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
main subject
Charcot-Marie-Tooth disease type 1A
1 reference
based on heuristic
inferred from title
author name string
C D Kashork
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
J R Lupski
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
L G Shaffer
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
publication date
1 May 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
published in
Prenatal Diagnosis
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
volume
19
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
page(s)
446-449
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
cites work
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Charcot-Marie-Tooth disease and related inherited neuropathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Trophoblast sampling in early pregnancy. Culture of rapidly dividing cells from immature placental villi
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Ultrastructural PMP22 expression in inherited demyelinating neuropathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1097-0223(199905)19:5<446::AID-PD566>3.0.CO;2-O
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
PubMed publication ID
10360513
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10360513
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit