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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization
scientific article published on 01 May 1999
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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
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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
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