Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 13 (of 13 Records) |
Query Trace: Bannayan-riley-ruvalcaba Syndrome[original query] |
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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. Journal of medical genetics 2005 Apr 42 (4): 318-21. Butler M G, Dasouki M J, Zhou X-P, Talebizadeh Z, Brown M, Takahashi T N, Miles J H, Wang C H, Stratton R, Pilarski R, Eng |
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Jun 144B (4): 484-91. Buxbaum Joseph D, Cai Guiqing, Chaste Pauline, Nygren Gudrun, Goldsmith Juliet, Reichert Jennifer, Anckarsäter Henrik, Rastam Maria, Smith Christopher J, Silverman Jeremy M, Hollander Eric, Leboyer Marion, Gillberg Christopher, Verloes Alain, Betancur Catali |
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism research : official journal of the International Society for Autism Research 2010 Jun 3 (3): 137-41. McBride Kim L, Varga Elizabeth A, Pastore Matthew T, Prior Thomas W, Manickam Kandamurugu, Atkin Joan F, Herman Gail |
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. Thyroid : official journal of the American Thyroid Association 2010 12 21 (2): 135-44. Laury Anna Ray, Bongiovanni Massimo, Tille Jean-Christophe, Kozakewich Harry, Nosé Vân |
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. Journal of medical genetics 2011 Aug 48 (8): 505-12. Pilarski Robert, Stephens Julie A, Noss Ryan, Fisher James L, Prior Thomas |
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. American journal of human genetics 2011 1 88 (1): 42-56. Tan Min-Han, Mester Jessica, Peterson Charissa, Yang Yiran, Chen Jin-Lian, Rybicki Lisa A, Milas Kresimira, Pederson Holly, Remzi Berna, Orloff Mohammed S, Eng Char |
An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing. British journal of cancer 2013 Feb 108 (2): 438-41. Sandell S, Schuit R J L, Bunyan D |
Breast cancer risk and clinical implications for germline PTEN mutation carriers. Breast cancer research and treatment 2015 Dec . Ngeow Joanne, Sesock Kaitlin, Eng Char |
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome. NPJ genomic medicine 2017 2 37. Yehia Lamis, Ni Ying, Eng Char |
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. PLoS genetics 2018 4 14 (4): e1007352. Yehia Lamis, Ni Ying, Sesock Kaitlin, Niazi Farshad, Fletcher Benjamin, Chen Hannah Jin Lian, LaFramboise Thomas, Eng Char |
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. American journal of medical genetics. Part A 2019 May . Golas Monika M, Auber Bernd, Ripperger Tim, Pabst Brigitte, Schmidt Gunnar, Morlot Michel, Diebold Uta, Steinemann Doris, Schlegelberger Brigitte, Morlot Susan |
Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. American journal of human genetics 2019 10 105 (4): 813-821. Yehia Lamis, Ni Ying, Feng Fang, Seyfi Marilyn, Sadler Tammy, Frazier Thomas W, Eng Char |
Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation. Frontiers in endocrinology 2023 6 14 1205785. Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Giulia Tarantola, Silvia Laura Carla Meroni, Riccardo Maggiore, Gilberto Mari, Maria Grazia Patricelli, Marco Schiavo Lena, Graziano Barera, Maria Cristina Vigo |
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- Page last updated:May 28, 2024
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