(Q43232472)

English

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

scientific article published on 27 April 2007

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468296%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

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Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468296%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Smith-Magenis syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Stanislas Lyonnet

15

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468296%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Tania Attié-Bitach

13

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30 December 2019

14

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30 December 2019

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J Andrieux

1

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30 December 2019

C Villenet

2

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30 December 2019

S Quief

3

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30 December 2019

S Lignon

4

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Europe PubMed Central

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30 December 2019

S Geffroy

5

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30 December 2019

C Roumier

6

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30 December 2019

H de Leersnyder

7

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30 December 2019

M-C de Blois

8

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30 December 2019

S Manouvrier

9

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30 December 2019

B Delobel

10

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30 December 2019

B Benzacken

11

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30 December 2019

M Vekemans

16

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30 December 2019

J-P Kerckaert

17

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30 December 2019

P Bitoun

12

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Europe PubMed Central

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30 December 2019

language of work or name

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publication date

27 April 2007

1 reference

Europe PubMed Central

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30 December 2019

Journal of Medical Genetics

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30 December 2019

44

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30 December 2019

8

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Europe PubMed Central

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30 December 2019

537-540

1 reference

Europe PubMed Central

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30 December 2019

SUMO1 haploinsufficiency leads to cleft lip and palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Alzheimer's disease meets the ubiquitin-proteasome system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

The ubiquitin-proteasome pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

25 May 2018

Overview of Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

15 August 2018

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

15 August 2018

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

15 August 2018

Mutations in RAI1 associated with Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597929

15 August 2018

Definition of the critical interval for Smith-Magenis syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17468296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modification of Msx1 by SUMO-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17468296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families

1 reference

https://pubmed.ncbi.nlm.nih.gov/17468296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.048736

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468296%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468296%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468296%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

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