LE WE PMID CA
Angelman s syndrome149Angelman Syndrom

Angelman s syndrome

Autism

Autosomal dominant epilepsy with febrile seizures plus

Autosomal dominant Juvenile Myoclonic Epilepsy

Beckwith Wiedemann syndrome

Catch22

Childhood absence epilepsy

CLCN2 ClC2

CMV

Cornelia de Lange syndrome

Diabetes mellitus (neonatal transient)

Diabetes mellitus (neonatal)

Down s syndrome

Dravet s syndrome

Epilepsy (BASKET)

Fragile X syndrome

GABRA1

GABRA4

GABRA5

GABRA6

GABRB3

GABRD

GABRE

GABRG2

GABRG3

GABRP

Genetics (Imprinting)

Heart (Coronary heart disease Main stenosis)

HOXA1

Insemination (Artificial)

Ion channel (Chloride)

KCC3

Maternal hypomethylation syndrome

MECP2

Mitochondria (Mitochondriopathy)

Neurofibromatosis

Neuroligin3 NLGN3

Neuroligin4 NLGN4

NRXN1 Neurexin1

Phenylketonuria

Prader Willi syndrome

PTEN MMAC1 TEP1

PTH (Pseudohypoparathyroidism)

Receptor (GABA A)

Rett s syndrome

Rubella

Russell Silver s syndrome

SHANK3

Thalidomide

Transporter (Chloride and potassium)

Tuberous sclerosis

UBE3A

Uniparental disomy of chromosome 14

Valproic acid

2009  
1
Angelman syndrome: current understanding and research prospects.
[19874386] Epilepsia 50(11): 2331-9 (2009)
2008  
2
Behavior and neuropsychiatric manifestations in Angelman syndrome.
[18830393] Neuropsychiatr Dis Treat 4(3): 577-84 (2008)
1999  
3
Genetics of Angelman syndrome.
[10364509] Am J Hum Genet 65(1): 1-6 (1999)
1989  
4
The 'happy puppet' syndrome of Angelman: review of the clinical features.
[2466440] Arch Dis Child 64(1): 83-6 (1989)
2006  
5
Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.
[16401744] Arch Neurol 63(1): 122-8 (2006)
1999  
6
Towards a molecular understanding of Prader-Willi and Angelman syndromes.
[10469839] Hum Mol Genet 8(10): 1867-73 (1999)
2003  
7
Angelman syndrome: a review of the clinical and genetic aspects.
[12566516] J Med Genet 40(2): 87-95 (2003)
1996  
8
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
[8929945] J Med Genet 33(2): 107-12 (1996)
1987  
9
Angelman (happy puppet) syndrome in a girl and her brother.
[3585943] J Med Genet 24(5): 294-8 (1987)
2008  
10
A review of known imprinting syndromes and their association with assisted reproduction technologies.
[18703582] Hum Reprod 23(12): 2826-34 (2008)
2010  
11
Mutations affecting GABAergic signaling in seizures and epilepsy.
[20352446] Pflugers Arch 460(2): 505-23 (2010)
2009  
12
Angelman syndrome (AS, MIM 105830).
[19455185] Eur J Hum Genet 17(11): 1367-73 (2009)
2010  
13
Epilepsy in patients with Angelman syndrome.
[20398390] Ital J Pediatr 36(-): 31 (2010)
2009  
14
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.
[18728070] J Med Genet 46(1): 1-8 (2009)
2007  
15
Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome.
[17559342] Pharmacogenomics 8(6): 539-41 (2007)
2010  
16
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
[20459762] BMC Med Genet 11(-): 70 (2010)

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  • Molekulare und cytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom


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