(Q70588392)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

main subject

Smith-Magenis syndrome

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

author name string

A Moncla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

L Piras

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

O F Arbex

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

M G Mattei

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

J F Mattei

6

1 reference

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12 October 2019

M Fontes

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

publication date

1 February 1993

1 reference

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12 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

page(s)

657-660

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00202487

12 October 2019

exact match

0 references

cites work

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).

1 reference

12 December 2020

A strategy to reveal high-frequency RFLPs along the human X chromosome

1 reference

12 December 2020

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

12 December 2020

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

1 reference

12 December 2020

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

1 reference

12 December 2020

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

12 December 2020

A mapped set of DNA markers for human chromosome 17.

1 reference

12 December 2020

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

1 reference

12 December 2020

Second international workshop on human chromosome 17.

1 reference

12 December 2020

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

12 December 2020

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases

1 reference

12 December 2020

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

12 December 2020

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17

1 reference

12 December 2020

Clinical and molecular diagnosis of Miller-Dieker syndrome

1 reference

12 December 2020

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

12 December 2020

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1 reference

12 December 2020

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.

1 reference

12 December 2020

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

1 reference

12 December 2020

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

1 reference

12 December 2020

Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00202487

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444473%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference