(Q33593556)

28 July 2017

1 reference

title

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

1 reference

28 July 2017

main subject

Smith-Magenis syndrome

1 reference

Moncla A

1

1 reference

28 July 2017

Livet MO

2

1 reference

28 July 2017

Auger M

3

1 reference

28 July 2017

Mattei JF

4

1 reference

28 July 2017

Mattei MG

5

1 reference

28 July 2017

Giraud F

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1991

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

28

1 reference

28 July 2017

issue

9

1 reference

28 July 2017

page(s)

627-632

1 reference

Patterns of DNA replication of human chromosomes. II. Replication map and replication model.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Microdeletion syndromes, balanced translocations, and gene mapping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Contiguous gene syndromes: a component of recognizable syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Report of the committee on the genetic constitution of chromosome 17.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015796

Interstitial deletion of the short arm of chromosome 17

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1956064

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.28.9.627

1 reference

release_u56nv6p7mnfxzlbjzj4mylgwxi

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/u56nv6p7mnfxzlbjzj4mylgwxi

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

1015796

1 reference

28 July 2017

1 reference