woensdag, 26 november 2014

"Het doel van de Nina Foundation is het stimuleren van wetenschappelijk onderzoek naar de oorzaak en behandeling van het Angelman Syndroom"

Research Articles

Below you will find a database containing Research Articles on the Angelman Syndrome/

We try to keep it as much up to date as possible. This is done with a team of people who search the internet or contact researches to ask for permission to post their articles. The articles are placed in their original language, most of the time English.

Documenten

Rangschik op : Naam | Datum | Hits [ Aflopend ]

Neurological aspects of the Angelman syndrome Neurological aspects of the Angelman syndrome

hot!
Aanmaakdatum: 05/05/2007
Bestandsgrootte: 290.64 kB
Downloads: 557

Neurological aspects of the Angelman syndrome

Charles Williams

Brain & Development
27 (2005) 88-94

MeCP2 in neurons: closing in on the causes of Rett syndrome MeCP2 in neurons: closing in on the causes of Rett syndrome

hot!
Aanmaakdatum: 05/05/2007
Bestandsgrootte: 196.83 kB
Downloads: 455
MeCP2 in neurons: closing in on the causes of Rett syndrome

Caballero, Isabella & Brian Hendrich

Human Molecular Genetics
2005, Vol. 14, Review Issue 1

Psychosocial probl. coping strategies, & the need for inform. of parents of children with PWS & AS Psychosocial probl. coping strategies, & the need for inform. of parents of children with PWS & AS

hot!
Aanmaakdatum: 05/05/2007
Bestandsgrootte: 85.18 kB
Downloads: 464
Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome

H.W. van den Borne et al

Patient Education and Counseling
38 (1999) 205-216

Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria

hot!
Aanmaakdatum: 05/05/2007
Bestandsgrootte: 90.81 kB
Downloads: 553
Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria

Williams, Charles et al

American Journal of Medical Genetics
140A:413-418 (2006)
This article also has been translated into non scientific language in the section Nina's Journal club

Analysis of Cerebellar Function in Ube3a Deficient Mice Reveals Novel Genotype Specific Behaviors Analysis of Cerebellar Function in Ube3a Deficient Mice Reveals Novel Genotype Specific Behaviors

hot!
Aanmaakdatum: 10/07/2007
Bestandsgrootte: 5.83 MB
Downloads: 414
Analysis of Cerebellar Function in Ube3a Deficient Mice Reveals Novel Genotype Specific Behaviors

Detlef Heck, Yu Zhao, Snigdha Roy, Mark S. LeDoux, and Lawrence T. Reiter

Hum Mol Genet e-pub April 15, 2008

Detailed analysis of 15q11-q14 Detailed analysis of 15q11-q14

hot!
Aanmaakdatum: 29/07/2007
Bestandsgrootte: 513.67 kB
Downloads: 518

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in
the public access sequence to fully reveal large segmental
duplications at breakpoints for Prader-Willi, Angelman, and inv
dup(15) syndromes

Andrew J Makoff and Rachel H Flomen

8th June 2007

Identification of novel deletions of 15q11q13 Identification of novel deletions of 15q11q13

hot!
Aanmaakdatum: 29/07/2007
Bestandsgrootte: 150.14 kB
Downloads: 483

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.

European Journal of Human Genetics advance online publication 23 May 2007;

Genetic engineering cures mice of neurological deficits Genetic engineering cures mice of neurological deficits

hot!
Aanmaakdatum: 30/07/2007
Bestandsgrootte: 109.96 kB
Downloads: 466

Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome

Ype Elgersma

Pharmacogenomics (2007), 8(6), 539-541

A therapeutic trial in AS A therapeutic trial in AS

hot!
Aanmaakdatum: 17/08/2007
Bestandsgrootte: 100.59 kB
Downloads: 426

Molecular genetics of Prader Willi Syndrome (PWS) and Angelman Syndrome (AS): Part II - A therapeutic trial in Angelman Syndrome (AS)

Dr. Arthur Beaudet and Associates

Angelman Syndrome, a Parent’s Brochure for Parents Angelman Syndrome, a Parent’s Brochure for Parents

hot!
Aanmaakdatum: 17/08/2007
Bestandsgrootte: 77.23 kB
Downloads: 396

Angelman Syndrome, a Parent’s Brochure for Parents

Presentations at the 1st World Conference IASO - Tampere, Finland, 4-8 July, 2000
Presented by: Martha Sprowles, (New Hope, PA, USA) Mother of Sara (AS, b. 1985)

Pagina 6 van 10
twitterNF facebookNFlinkedinNFrssNF

Donaties

Expertise Centrum

Er zijn al:

52

Angelman kinderen op bezoek geweest
 en ingeschreven in het Expertisecentrum

Kids in Actie

Kids in Actie

Bankgegevens Nina Foundation

1291.59.220, Rabobank te Rotterdam

LizevaLogo2009aangepast
  alphamegahosting  
overlevingsfonds