The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

Parisi MA; Dinulos MB; Leppig KA; Sybert VP; Eng C; Hudgins L

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The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

机译：Bannayan-Riley-Ruvalcaba综合征的PTEN突变阳性病例的表型发现谱和演变。

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来源
《Journal of Medical Genetics》 |2001年第1期|共7页
作者
Parisi MA; Dinulos MB; Leppig KA; Sybert VP; Eng C; Hudgins L;
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原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
Abnormalities; Multiple; Craniofacial Abnormalities; Hamartoma Syndrome; Multiple; 畸形; 多发性; 颅面骨畸形; 错构瘤综合征; 多发性; 磷酸单脂水解酶类;

机译：Abnormalities;Multiple;Craniofacial Abnormalities;Hamartoma Syndrome;Multiple;畸形;多发性;颅面骨畸形;错构瘤综合征;多发性;磷酸单脂水解酶类;

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专利

1. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. [J] . Parisi MA, Dinulos MB, Leppig KA, Journal of Medical Genetics . 2001,第1期

机译：Bannayan-Riley-Ruvalcaba综合征的PTEN突变阳性病例的表型发现谱和演变。
2. Importance of volumetric data of the human brain structure in a PTEN mutation positive Bannayan-Riley-Ruvalcaba Syndrome: A methodological analysis [J] . Soysal Y., Mas N. Gocmen, Marques Lourenco C., The FEBS journal . 2015,第Suppla1期

机译：在PTEN突变阳性的Bannayan-Riley-Ruvalcaba综合征中人脑结构的体积数据的重要性：一种方法学分析
3. Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum [J] . Hady-Cohen Ronen, Maharshak Idit, Michelson Marina, Journal of child neurology . 2019,第9期

机译：PTEN突变中的2兄弟的家族性颅内高血压：扩张表型谱
4. RUNX2/CBFA1 Mutations in Cleidocranial Dysplasia: Phenotypic and Structure/Function Correlations [C] . Kim McBride, Dobrawa Napierala, Yuqing Chen, Falk Symposium . 2002

机译：Cleidocanial dysplasia中的Runx2 / CBFA1突变：表型和结构/功能相关性
5. RESPONSE SPECIFICITY WITH ETHYL-METHANESULFONATE (EMS): THE EFFECT OF GENE POSITION UPON OBSERVED MUTATIONAL SPECTRUMS IN DROSOPHILA MELANOGASTER AND DIFFERENTIAL ALKYLATING SENSITIVITY DURING SPERMATOGENESIS IN THE HONEYBEE (APIS MELLIFERA). [D] . BISHOP, JACK BELMONT. 1974

机译：甲基磺酸乙酯（EMS）的响应特异性：基因位置对果蝇（Drossophella melanoster）中观察到的互变谱的影响以及在蜜蜂生精过程中差异生代的烷基化敏感性（API）。
6. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome [O] . M. PARISI, M. B. DINULOS, K. LEPPIG, 2001

机译：Bannayan-Riley-Ruvalcaba综合征的PTEN突变阳性病例的表型表现谱和演变
7. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome [O] . PARISI, M., DINULOS, M. B., LEPPIG, K., 2001

机译：Bannayan-Riley-Ruvalcaba综合征的PTEN突变阳性病例的表型表现谱和演变

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

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