(Q35204512)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

title

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

main subject

Smith-Magenis syndrome

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

8

W B Dobyns

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

Roberto Montes-de-Oca-Luna

17 September 2019

3

object named as

R Montes de Oca-Luna

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

author name string

F Greenberg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

V Guzzetta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

R E Magenis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

A C Smith

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

S F Richter

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

I Kondo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

J R Lupski

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

language of work or name

English

0 references

publication date

1 December 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

page(s)

1207-1218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

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

17 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Onychotillomania. 2 case reports

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Interstitial deletion of 17p11.2: case report and review

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Variable number of tandem repeat (VNTR) markers for human gene mapping

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Contiguous gene syndromes: a component of recognizable syndromes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Prevalence study of Prader-Willi syndrome in North Dakota

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Genomic imprinting: review and relevance to human diseases.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Three polymorphisms at the D17S29 locus.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Two MspI RFLPs at the D17S258 locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Molecular characterization of a patient with del(1)(q23-q25).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Clinical and molecular diagnosis of Miller-Dieker syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686451

An additional case of deletion 17p11.2.

26 September 2018

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

A genetic map of human chromosome 17p

1 reference

12 December 2020

Interstitial deletion of the short arm of chromosome 17

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

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

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746552%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

1 reference