AS Medical Journal Articles

Information but no Soul

When the genetic counselor at the Prader-Willi office first raised the possibility that Maggie had Angelman, she advised that we not search for information on the internet. Of course that was like asking us not to breath for the next six weeks until the lab results came back. Since Rob works at the University, he has access to many medical journal articles. Some are useful; others are unintelligible but none capture the spirit of our children.

A pdf file of each article is linked to the titles below. Most were published fairly recently, but the academic publishing process often takes years between research and publishing. As we wade through reading more articles we will create a more user friendly catalogue.

Most recent medical journal article: Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of aCaMKII inhibitory phosphorylation by van Woerder et al.

Alphabetical by first author: A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

A - C

Screening for UBE3Agene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria
Baumer, Alessandra, et al. Human Genetics. (1999) 105 : 598–602.

Motor impairments, neurological signs, and developmental level in individuals with Angelman Syndrome
Beckung, Eva, et al. Developmental Medicine & Child Neurology. 46: 239-243. (2004)

Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD
Bittel, Douglas, et al. Genomics 85 (2005) 85–91

Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect
Brrockmann, K et al. Journal of Medical Genetics. (2002) 39:51

Global analysis of uniparental disomy using high density genotyping arrays
Bruce, S. et al. Journal of Medical Genetics 2005;42;847-851

Sleep disturbances in Angelman syndrome: a questionnaire study
Bruni, Oliviero et al. Brain & Development 26 (2004) 233–240

Angelman Syndrome. Are the estimates too low? Buckley, Robert, Nuhad Dinno, and Patricia Weber. American Journal of Medicl Genetics. 80: 385 - 390 (1998)

MeCP2 in neurons: closing in on the causes of Rett syndrome
Caballero, Isabella & Brian Hendrich. Human Molecular Genetics, 2005, Vol. 14, Review Issue 1

Use of Enhanced Natural Gestures to Foster Interactions Between Children With Angelman Syndrome and Their Parents Calculator, Stephen. American Journal of Speech Language Pathology, November 2002, Vol. 11.

Large geneomic duplicons to map sites in the Prader-Willi / Angelman Syndrome chromosome region (15q11 - q13) Christian, Susan et al. Human Molecular Genetics, 1999, Vol. 8, No. 6.

Angelman syndrome: evolution of the phenotype in adolescents and adults
Clayton-Smith, Jill and L. Laan. Journal of Medical Genetics. 40: 87-95. (2003)

Genetic Testing for Angelman Syndrome
Clayton-Smith, Jill. ASSERT Information Sheet No. 67.

Potential Pitfall in Prader-Willi and Angelman Syndrome Molecular Diagnosis Laurence Cuisset et al. American Journal of Medical Genetics. 80: 543-545 (1998)

Postural rhythmic muscle bursting activity in Angelman syndrome
Bernard Dan & Guy Cheron. Brain & Development 26 (2004) 389–393

D - G

Imprinted gene expression in the brain
William Davies et al. Neuroscience and Biobehavioral Reviews xx (2004) 1–10

Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletionGimelli et al. Human Molecular Genetics, 2003, Vol. 12, No. 8

The Spectrum of Mutations in UBE3A Causing Angelman Syndrome
Ping Fang et al. Human Molecular Genetics. 8(1) : 129-135. (1999)

Paternal UPD15: Further Genetic and Clinical Studies in Four Angelman Syndrome Patients Cintia Fridman, Monica C. Valera, Fernando Kok, Aron Diament, and Celia P. Koiffmann. American Journal of Medical Genetics. 92: 322-327 (2000)

H - L

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)

Imprinting in Angelman and Prader-Willi syndromes
Yong-hui Jiang,et al. Current Opinion in Genetics & Development 1998, 8:334-342

Establishing the epigenetic status of the Prader–Willi/Angelman imprinting center in the gametes and embryo
Boris Kantor et al. Human Molecular Genetics, 2004, Vol. 13, No. 22

Control elements within the PWS/AS imprinting box and their function in the imprinting process
Boris Kantor et al. Human Molecular Genetics, 2004, Vol. 13, No. 7

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)

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy
Tomohiro Kumada et al. Brain & Development 27 (2005) 127–134

Angelman syndrome: is there a characteristic EEG?
Laura A.E.M. Laan & Alla A. Vein. Brain & Development 27 (2005) 80–87

Angelman syndrome: a review of clinical and genetic aspects
Laura A.E.M. Laan et al. Clinical Neurology and Neurosurgery 101 (1999) 161–170

Distinct Phenotypes Distinguish the Molecular Classes of Angelman Syndrome A. C. Lossie et al. Journal of Medical Genetics . 38: 834-845. (2001)

M - R

Imprinting and assisted reproductive technology
Eamonn Maher. Human Molecular Genetics, 2005, Vol. 14, Review Issue 1

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression
Kirill Makedonski et al. Human Molecular Genetics, 2005, Vol. 14, No. 8

Towards a Molecular Understanding of Prader-Willi & Angelman Syndromes.
Melissa Mann & Marisa Bartolomei. Human Molecular Genetics,1999, Vol. 8, No. 109 Review.

Sleep breathing and periodic leg movement pattern in Angelman Syndrome: A polysomnographic study
Silvia Miano et al. Clinical Neurophysiology 116 (2005) 2685-2692

Angelman Syndrome resulting from UBE3A mutations in 14 patients in 8 families: clinical manifestations and genetic counseling
Anne Moncla et al. Journal of Medical Genetics. (1999) 36: 554-560.

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
Hu¨ lya Nazlican et al. Human Molecular Genetics, 2004, Vol. 13, No. 21

Imprinting in Prader–Willi and Angelman syndromes
Robert Nicholls et al. TIG MAY 1998 VOL. 14 NO. 5

Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi Syndrome
Shinsuke Ninomiya et al. Pediatrics International. (2005) 47 :541-545.

Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families
Erika L. Nurmi et al. GENOMICS Vol. 77, Numbers 1–2, September 2001

Relationship between severity of epilepsy and developmental outcome in Angelman syndrome
Yoko Ohtsuka et al. Brain & Development 27 (2005) 95–100

Letter to Editor in re antiepileptic drugs.
John Ostergaard and Thomas Balslev. Developmental Medicine & Child Neurology. 43: 718-719. (2001)

Cognitive and Adaptive Behavoir Profiles of Children with Angelman Sarika U. Peters, Jan Goddard-Fingold, Arthur L. Beaudet, Neru Madduri, Mario Turcich, and Carlos A. Bacino. American Journal of Medical Genetics. 128A: 110 - 113 (2004).

Characterisation of interstitial duplications and triplications of chromosome 15q11–q13
Siân E. Roberts et al. Human Genetics. (2002) 110 :227–234.

SNURF-SNRPNand UBE3Atranscript levels in patients with Angelman syndrome
Maren Runte et al. Human Genetics. (2004) 114 : 553–561.

S - Z

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

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome
Shinji Saitoh et al. Brain & Development xx (2005) 1–3

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
Rodney C. Samaco et al. Human Molecular Genetics, 2005, Vol. 14, No. 4

Addressing the Needs of Parents and Their Children with Disabilities: Especially in Times of School Transitions Schermerhorn, Yvonne

Autism and Maternally Derived Aberrations of Chromosome 15 Richard J. Schroer et al. American Journal of Medical Genetics. 76: 327-336 (1998)

Genetic Counseling in Angelman Syndrome: The Challenges of Multiple Causes Heather J. Stalker, and Charles A. Williams. American Journal of Medical Genetics. 77: 54-59 (1998).

Assisted reproductive therapies and imprinting disorders—a preliminary British survey
James S Sutcliffe et al. Human Reproduction Vol.21, No.4 pp. 1009–1011, 2006

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures
James S Sutcliffe et al. BMC Genomics 2003, 4:15

Genomic Imprintint and Reproduction
A. Swales and N. Spears. Reproduction . (2005). 130: 389-399

Prader Willi / Angelman and DiGeorge / Velocariofacial Syndrome Deletions: Dianosis by Primed In Situ Labeling (PRINS) Avarichan T. Tharapel, Jayarama S. Kadandale, Paula R. Martens, Stephen S. Watchel, R. Sid Wilroy Jr. American Journal of Medical Genetics. 107: 119-122 (2002)

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region
N. Simon Thomas et al. Human Genetics. (1999) 105 : 384–387.

A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953–2003
Thomson, A. et al. Disability and Rehabilitation, 28(5):299-305, 2006.

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

Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review Veltman, Marijcke et al.. Psychiatric Genetics. 2005. 15: 243254

Electroclinical characteristics of seizures—comparing Prader-Willi syndrome with Angelman syndrome
Wang, Pen-Jung et al. Brain & Development 27 (2005) 101–107

Angelman Syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
Watson, Pamela et al. Journal of Medical Genetics. 38 (2001) 224-228

Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for Prader–Willi Syndrome and Angelman Syndrome
White, Helen et al. Clinical Chemistry 52, No. 6, 2006

Angelman Syndrome 2005: Updated Consensus for Diagnostic Criteria
Williams, Charles et al. American Journal of Medical Genetics. 140A:413–418 (2006)

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)

Neurological aspects of the Angelman syndrome
Charles Williams. Brain & Development 27 (2005) 88–94

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Information but no Soul