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Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A

机译：BMPR1A大型基因组缺失患者胃癌幼年息肉综合征的可变特征

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Sari Lieberman; Rachel Beeri; Tom Walsh; Menachem Schechter; Dan Keret; Elizabet Half; Suleyman Gulsuner; Ariela Tomer; Harold Jacob; Shlomi Cohen; Lina Basel-Salmon; Mahmud Mansur; Rachel Berger; Lior H. Katz; Eliahu Golomb; Tamar Peretz; Zohar Levy; Inbal Kedar; Mary-Claire King; Ephrat Levy-Lahad; Yael Goldberg;
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1. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A [J] . Sari Lieberman, Rachel Beeri, Tom Walsh, Clinical and Translational Gastroenterology . 2019,第7期

机译：BMPR1A大基因组缺失患者中伴有胃息肉的青少年息肉病综合征的可变特征
2. Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance [J] . Alimi Adebisi, Weeth-Feinstein Lauren A., Stettner Amy, American journal of medical genetics, Part A . 2015,第6期

机译：由涉及BMPR1A和PTEN的10号从头删除引起的幼年息肉病综合征和Cowden综合征的重叠：对治疗和监测的意义
3. A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome [J] . Bajro Marija Hiljadnikova, Sukarova-Angelovska Elena, Adelaide Jose, Journal of Applied Genetics . 2013,第1期

机译：一起包含PTEN和BMPR1A的10q23间质缺失的新病例缩小了青少年息肉病综合征中缺失的遗传区域
4. Elucidation of Gross Genomic Rearrangements Involving Large Deletions in the Clotting Factor VIII Gene [C] . Ch.Muhle, G.Lischetzki, J.Schroder, Hemophilia Symposium . 2008

机译：阐明涉及凝血因子VIII基因的大缺失的总基因组重排
5. The New Face of Genetics: Education of the Medical Community to Improve Patient Satisfaction. A Comparison of 22q11.2 Deletion Syndrome and Turner Syndrome. [D] . Moser, Cory R. 2013

机译：遗传学的新面貌：医学界对提高患者满意度的教育。 22q11.2删除综合征和特纳综合征的比较。
6. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A [O] . Sari Lieberman, Rachel Beeri, Tom Walsh, 2019

机译：BMPR1A大基因组缺失患者中伴有胃息肉的青少年息肉病综合征的可变特征
7. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers [O] . Robert Blatter, Benjamin Tschupp, Stefan Aretz, 2020

机译：幼年蛋白病综合征中的疾病表达：221例欧洲患者队列的回顾性调查与473 SMAD4 / BMPR1A致病变异载体的文献衍生队列的比较

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A

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