donderdag, 23 oktober 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

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Resc. of neurolog. deficits in a mouse model f. AS  by reduct. of aCaMKII inhibitory phosphorylation Resc. of neurolog. deficits in a mouse model f. AS by reduct. of aCaMKII inhibitory phosphorylation

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Aanmaakdatum: 20/02/2007
Bestandsgrootte: 1.27 MB
Downloads: 448
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of aCaMKII inhibitory phosphorylation

 

This article also has been translated into non scientific language in the section Nina's Journal club

Levodopa responsive Parkinsonism in adults with Ange Levodopa responsive Parkinsonism in adults with Ange

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Aanmaakdatum: 20/02/2007
Bestandsgrootte: 47.15 kB
Downloads: 688

Levodopa responsive Parkinsonism in adults with Angelman Syndrome

Autopsy on a person with AS Autopsy on a person with AS

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Aanmaakdatum: 20/02/2007
Bestandsgrootte: Onbekend
Downloads: 123
Document linked to :http://www.ncbi.nlm.nih.gov/entrez/query.fcgicmd=Retrieve&db=PubMed&list_uids=2006012&dopt=Abstract Link created on :Tue, 2007-Feb-20 23:26
Het document wordt geupdate/aangepast door een gebruiker en is onbeschikbaar op dit ogenblik.

Autopsy on a person with AS Autopsy on a person with AS

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Aanmaakdatum: 20/02/2007
Bestandsgrootte: Onbekend
Downloads: 721

Document linked to :http://www.ncbi.nlm.nih.gov/entrez/query.fcgicmd=Retrieve&db=PubMed&list_uids=2006012&dopt=Abstract Link created on :Tue, 2007-Feb-20 23:26

 

An unexpected recurrence of Angelman Syndrome sugesstive of maternal germ-line mosaicism of del (15) An unexpected recurrence of Angelman Syndrome sugesstive of maternal germ-line mosaicism of del (15)

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Aanmaakdatum: 28/04/2007
Bestandsgrootte: 36.56 kB
Downloads: 472
An unexpected recurrence of Angelman Syndrome sugesstive of maternal germ-line mosaicism of del (15)(q11q13) in a Finnish family.

Hannaleena Kokken and Jaakko Laitsi.

Human Genetics
107: 93-85 (2000)

Autism and Maternally Derived Aberrations of Chromosome 15 Autism and Maternally Derived Aberrations of Chromosome 15

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Aanmaakdatum: 28/04/2007
Bestandsgrootte: 105.62 kB
Downloads: 551

Autism and Maternally Derived Aberrations of Chromosome 15

Richard J. Schroer et al.

American Journal of Medical Genetics
76: 327-336 (1998)

Angelman Syndrome. Are the estimates too low? Angelman Syndrome. Are the estimates too low?

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Aanmaakdatum: 28/04/2007
Bestandsgrootte: 182.32 kB
Downloads: 402
Angelman Syndrome. Are the estimates too low?

Buckley, Robert, Nuhad Dinno, and Patricia Weber.

American Journal of Medicl Genetics
80: 385 - 390 (1998)

Angelman Syndrome: Mimicking Conditions and Phenotypes Angelman Syndrome: Mimicking Conditions and Phenotypes

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Aanmaakdatum: 28/04/2007
Bestandsgrootte: 172.66 kB
Downloads: 437
Angelman Syndrome: Mimicking Conditions and Phenotypes

Charles, A. Williams, Amy Lossie, Daniel Driscoll, and the R.C. Philips Unit.

American Journal of Medical Genetics

101: 59-64 (2001)

Manifestations in Institutionalised Adults with Angelman Syndrome Due to Deletion Manifestations in Institutionalised Adults with Angelman Syndrome Due to Deletion

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Aanmaakdatum: 28/04/2007
Bestandsgrootte: 1.05 MB
Downloads: 414

Manifestations in Institutionalised Adults with Angelman Syndrome Due to Deletion
Tis Saadanam et al.
American Journal of Medical Genetics.
70: 415-420 (1997)

Investigation of UBE3A and MECP2 In Angelman Syndrome (AS) and Patients with Features of AS Investigation of UBE3A and MECP2 In Angelman Syndrome (AS) and Patients with Features of AS

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Aanmaakdatum: 28/04/2007
Bestandsgrootte: 79.97 kB
Downloads: 509
Investigation of UBE3A and MECP2 In Angelman Syndrome (AS) and Patients with Features of AS

Megan P. Hitchins, Sarah Rickard, Fatima Dhalla, Bert B. A. de Vries, Robin Winter, Marcus E. Pembrey, and Sue Malcolm.

American Journal of Medical Genetics
125A: 167-172 (2004)
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