Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation

Verkouteren Babette J. A.; Cosgun Betuel; Vermeulen R. Jeroen; Reinders Marie G. H. C.; van Geel Michel; Gille Johan J. P.; Mosterd Klara

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Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation

机译：基底细胞痣综合征患者PTCH1突变患者患有血髓母细胞瘤的患病率

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来源
《Neuro-Oncology》 |2021年第6期|1035-1036|共2页
作者
Verkouteren Babette J. A.; Cosgun Betuel; Vermeulen R. Jeroen; Reinders Marie G. H. C.; van Geel Michel; Gille Johan J. P.; Mosterd Klara;
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Maastricht Univ Med Ctr Dept Dermatol P Debyelaan 25 NL-6229 HX Maastricht Netherlands|Maastricht Univ GROW Sch Oncol & Dev Biol Maastricht Netherlands;

Maastricht Univ Med Ctr Dept Dermatol P Debyelaan 25 NL-6229 HX Maastricht Netherlands|Maastricht Univ GROW Sch Oncol & Dev Biol Maastricht Netherlands;

Maastricht Univ Med Ctr Dept Neurol Maastricht Netherlands;

Maastricht Univ Med Ctr Dept Dermatol P Debyelaan 25 NL-6229 HX Maastricht Netherlands|Maastricht Univ GROW Sch Oncol & Dev Biol Maastricht Netherlands;

Maastricht Univ Med Ctr Dept Dermatol P Debyelaan 25 NL-6229 HX Maastricht Netherlands|Maastricht Univ GROW Sch Oncol & Dev Biol Maastricht Netherlands|Maastricht Univ Med Ctr Dept Clin Genet Maastricht Netherlands;

Vrije Univ Amsterdam Med Ctr Dept Clin Genet Amsterdam Netherlands;

Maastricht Univ Med Ctr Dept Dermatol P Debyelaan 25 NL-6229 HX Maastricht Netherlands|Maastricht Univ GROW Sch Oncol & Dev Biol Maastricht Netherlands;

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1. Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma. [J] . Fujii M, Noguchi K, Urade M, Journal of human genetics . 2011,第4期

机译：日本Nevoid基底细胞癌综合征患者的新型PTCH1突变：2例家族性和3例散发性病例，其中包括首例日本髓母细胞瘤患者。
2. Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. [J] . Takahashi C, Kanazawa N, Yoshikawa Y Journal of human genetics . 2009,第7期

机译：日本基底细胞痣综合征患者的生殖细胞PTCH1突变。
3. A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features [J] . Yuka Murata, Hiroshi Kurosaka, Yasuhisa Ohata, Human genome variation. . 2019,第1期

机译：基底细胞痣综合征的新型PTCH1突变，具有罕见的颅面特征
4. A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome [C] . Tingting Zhang, Mingjie Chen, Yan Lü, Academic Committee Conference of Shanghai key lab of stomatology . 2011

机译：PTCH1基因的新型突变激活了中国患有避免基底细胞癌综合征的中国家庭的Shh / Gli信号通路
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis [O] . Denis Miyashiro, Luis Antonio Torezan, Beni Moreinas Grinblat, 2019

机译：基底细胞痣综合征和双角子宫患者PTCH1基因的新型突变
7. Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma [O] . Midori Fujii, Kazuma Noguchi, Masahiro Urade, 2011

机译：日本Nevoid基础细胞癌综合征患者的新型PTCH1突变：两个家族和三种散发病例，包括第一个日本患者的Medulloblastoma

Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation

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