Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

Author:

Gilbert H L,Buxton J L,Chan C T,McKay T,Cottrell S,Ramsden S,Winter R M,Pembrey M E,Malcolm S

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. Puppet children. A report of three cases;Angelman, H.;Dev Med Child Neurol,1965

2. Prader-Willi syndrome: consensus diagnostic criteria;Holm, V.A.; Cassidy, S.B.; Butler, M.G.;Pediatrics,1993

3. cytogenetic and clinical investigations of Prader-Willi syndrome patients;Robinson, W.P.; Bottani, A.; Yagang, X.;Am J Hum Genet,1991

4. D4a0hlaidtuzltMs.wAithclitnhiecalP, racdyetrog-eWnieltliic, syannddrommoele.cJulaMresdtuGdeyneotf;Webb, T.; Clarke, D.; Hardy, C.A.; Kilpatrick, M.W.; Corbett, J.,1995

5. Molecular study of chromosome 15 in 22 patients with Angelman syndrome;Beuten, J.; Mangelschots, K.; Buntinx, I.;Hum Genet,1993

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1. Angelman Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

2. Angelman Syndrome;Atlas of Genetic Diagnosis and Counseling;2015

3. Angelman Syndrome;Atlas of Genetic Diagnosis and Counseling;2012

4. Germline mosaicism in X-linked myotubular myopathy;Clinical Genetics;1999-07

5. Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes;Human Genetics;1998-11-26

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