TY - JOUR AU - Nelen, M. R. AU - Kremer, H. AU - Konings, I. B. AU - Schoute, F. AU - van Essen, A. J. AU - Koch, R. PY - 1999 DA - 1999// TI - Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations JO - Eur J Hum Genet VL - 7 UR - https://doi.org/10.1038/sj.ejhg.5200289 DO - 10.1038/sj.ejhg.5200289 ID - Nelen1999 ER - TY - STD TI - Eng C. PTEN hamartoma tumor syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle: University of Washington; 2001. 1993–2017 [updated 2016 Jun 2]. https://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed 28 Sept 2017. UR - https://www.ncbi.nlm.nih.gov/books/NBK1488/ ID - ref2 ER - TY - JOUR AU - Lloyd, K. M. AU - Dennis, M. PY - 1963 DA - 1963// TI - Cowden’s disease: a possible new symptom complex with multiple system involvement JO - Ann Intern Med VL - 58 UR - https://doi.org/10.7326/0003-4819-58-1-136 DO - 10.7326/0003-4819-58-1-136 ID - Lloyd1963 ER - TY - JOUR AU - Nelen, M. R. AU - Padberg, G. W. AU - Peeters, E. A. J. AU - Lin, A. Y. AU - van den Helm, B. AU - Frants, R. R. PY - 1996 DA - 1996// TI - Localization of the gene for Cowden disease to 10q22-23 JO - Nat Genet VL - 13 UR - https://doi.org/10.1038/ng0596-114 DO - 10.1038/ng0596-114 ID - Nelen1996 ER - TY - JOUR AU - Liaw, D. AU - Marsh, D. J. AU - Li, J. AU - Dahia, P. L. AU - Wang, S. I. AU - Zheng, Z. PY - 1997 DA - 1997// TI - Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome JO - Nat Genet VL - 16 UR - https://doi.org/10.1038/ng0597-64 DO - 10.1038/ng0597-64 ID - Liaw1997 ER - TY - JOUR AU - Marsh, D. J. AU - Coulon, V. AU - Lunetta, K. L. AU - Rocca-Serra, P. AU - Dahia, P. L. AU - Zheng, Z. PY - 1998 DA - 1998// TI - Mutation spectrum and genotypephenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation JO - Hum Mol Genet VL - 7 UR - https://doi.org/10.1093/hmg/7.3.507 DO - 10.1093/hmg/7.3.507 ID - Marsh1998 ER - TY - JOUR AU - Hobert, J. A. AU - Eng, C. PY - 2009 DA - 2009// TI - PTEN hamartoma tumor syndrome: an overview JO - Genet Med VL - 11 UR - https://doi.org/10.1097/GIM.0b013e3181ac9aea DO - 10.1097/GIM.0b013e3181ac9aea ID - Hobert2009 ER - TY - STD TI - National Comprehensive Care Network (NCCN). www.nccn.org/professionals/physician_gls/f_guidelines.asp. Accessed 28 Sept 2017. UR - http://www.nccn.org/professionals/physician_gls/f_guidelines.asp ID - ref8 ER - TY - JOUR AU - Butler, M. G. AU - Dasouki, M. J. AU - Zhou, X. P. AU - Talebizadeh, Z. AU - Brown, M. AU - Takahashi, T. N. PY - 2005 DA - 2005// TI - Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations JO - J Med Genet VL - 42 UR - https://doi.org/10.1136/jmg.2004.024646 DO - 10.1136/jmg.2004.024646 ID - Butler2005 ER - TY - JOUR AU - Varga, E. A. AU - Pastore, M. AU - Prior, T. AU - Herman, G. E. AU - McBride, K. L. PY - 2009 DA - 2009// TI - The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay and macrocephaly JO - Genet Med VL - 11 UR - https://doi.org/10.1097/GIM.0b013e31818fd762 DO - 10.1097/GIM.0b013e31818fd762 ID - Varga2009 ER - TY - JOUR AU - Goffin, A. AU - Hoefsloot, L. H. AU - Bosgoed, E. AU - Swillen, A. AU - Fryns, J. P. PY - 2001 DA - 2001// TI - PTEN mutation in a family with Cowden syndrome and autism JO - Am J Med Genet VL - 105 UR - https://doi.org/10.1002/ajmg.1477 DO - 10.1002/ajmg.1477 ID - Goffin2001 ER - TY - JOUR AU - Herman, G. E. AU - Butter, E. AU - Enrile, B. AU - Pastore, M. AU - Prior, T. W. AU - Sommer, A. PY - 2007 DA - 2007// TI - Increasing knowledge of PTEN germline mutations: two additional patients with autism and macrocephaly JO - Am J Med Genet A VL - 143A UR - https://doi.org/10.1002/ajmg.a.31619 DO - 10.1002/ajmg.a.31619 ID - Herman2007 ER - TY - JOUR AU - Herman, G. E. AU - Henninger, N. AU - Ratliff-Schaub, K. AU - Pastore, M. AU - Fitzgerald, S. AU - McBride, K. L. PY - 2007 DA - 2007// TI - Genetic testing in autism: how much is enough? JO - Genet Med VL - 9 UR - https://doi.org/10.1097/GIM.0b013e31804d683b DO - 10.1097/GIM.0b013e31804d683b ID - Herman2007 ER - TY - JOUR AU - Orrico, A. AU - Galli, L. AU - Buoni, S. AU - Orsi, A. AU - Vonella, G. AU - Sorrentino, V. PY - 2009 DA - 2009// TI - Novel PTEN mutations in neurodevelopmental disorders and macrocephaly JO - Clin Genet VL - 75 UR - https://doi.org/10.1111/j.1399-0004.2008.01074.x DO - 10.1111/j.1399-0004.2008.01074.x ID - Orrico2009 ER - TY - JOUR AU - Eng, C. PY - 1997 DA - 1997// TI - Cowden syndrome JO - J Genet Couns VL - 6 UR - https://doi.org/10.1023/A:1025664119494 DO - 10.1023/A:1025664119494 ID - Eng1997 ER - TY - JOUR AU - Starink, T. M. AU - van der Veen, J. P. AU - Arwert, F. AU - de Waal, L. P. AU - de Lange, G. G. AU - Gille, J. J. PY - 1986 DA - 1986// TI - The Cowden syndrome: a clinical and genetic study in 21 patients JO - Clin Genet VL - 29 UR - https://doi.org/10.1111/j.1399-0004.1986.tb00816.x DO - 10.1111/j.1399-0004.1986.tb00816.x ID - Starink1986 ER - TY - JOUR AU - Brownstein, M. H. AU - Wolf, M. AU - Bikowski, J. B. PY - 1978 DA - 1978// TI - Cowden’s disease: a cutaneous marker of breast cancer JO - Cancer VL - 41 UR - https://doi.org/3.0.CO;2-K DO - 3.0.CO;2-K ID - Brownstein1978 ER - TY - JOUR AU - Fackenthal, J. D. AU - Marsh, D. J. AU - Richardson, A. L. AU - Cummings, S. A. AU - Eng, C. AU - Robinson, B. G. PY - 2001 DA - 2001// TI - Male breast cancer in Cowden syndrome patients with germline PTEN mutations JO - J Med Genet VL - 38 UR - https://doi.org/10.1136/jmg.38.3.159 DO - 10.1136/jmg.38.3.159 ID - Fackenthal2001 ER - TY - JOUR AU - Conti, S. AU - Condò, M. AU - Posar, A. AU - Mari, F. AU - Resta, N. AU - Renieri, A. PY - 2012 DA - 2012// TI - Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy JO - J Child Neurol VL - 27 UR - https://doi.org/10.1177/0883073811420296 DO - 10.1177/0883073811420296 ID - Conti2012 ER - TY - JOUR AU - Vanderver, A. AU - Tonduti, D. AU - Kahn, I. AU - Schmidt, J. AU - Medne, L. AU - Vento, J. PY - 2014 DA - 2014// TI - Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations JO - Am J Med Genet A VL - 164A UR - https://doi.org/10.1002/ajmg.a.36309 DO - 10.1002/ajmg.a.36309 ID - Vanderver2014 ER - TY - JOUR AU - Frazier, T. W. AU - Embacher, R. AU - Tilot, A. K. AU - Koenig, K. AU - Mester, J. AU - Eng, C. PY - 2015 DA - 2015// TI - Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism JO - Mol Psychiatry VL - 20 UR - https://doi.org/10.1038/mp.2014.125 DO - 10.1038/mp.2014.125 ID - Frazier2015 ER - TY - JOUR AU - Marsh, D. J. AU - Kum, J. B. AU - Lunetta, K. L. AU - Bennett, M. J. AU - Gorlin, R. J. AU - Ahmed, S. F. PY - 1999 DA - 1999// TI - PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome JO - Hum Mol Genet VL - 8 UR - https://doi.org/10.1093/hmg/8.8.1461 DO - 10.1093/hmg/8.8.1461 ID - Marsh1999 ER -