Collectrin gene screening in Turner syndrome patients with kidney malformation

L. Pasquali; G. d’Annunzio; R. Gastaldi; E. Di Battista; V. Calcaterra; D. Larizza; R. Lorini; E. D’Amato

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Collectrin gene screening in Turner syndrome patients with kidney malformation

机译：特纳综合征肾畸形患者Collectrin基因筛查

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Keywords Turner syndrome - collectrin - horseshoe kidney - human genetics

机译：关键词特纳综合征-collectrin-马蹄肾-人类遗传

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来源
《Journal of Genetics》 |2009年第1期|p.105-108|共4页
作者
L. Pasquali; G. d’Annunzio; R. Gastaldi; E. Di Battista; V. Calcaterra; D. Larizza; R. Lorini; E. D’Amato;
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正文语种 eng
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关键词
Turner syndrome; collectrin; horseshoe kidney; human genetics;

机译：特纳综合征;收集蛋白;马蹄肾;人类遗传学;

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专利

1. Collectrin gene screening in Turner syndrome patients with kidney malformation [J] . Pasquali L, dAnnunzio G, Gastaldi R, Journal of genetics . 2009,第1期

机译：特纳综合征肾畸形患者Collectrin基因筛查
2. Collectrin gene screening in Turner syndrome patients with kidney malformation [J] . D. Larizza, E. DAmato, E. Di Battista, Journal of genetics . 2009,第1期

机译：特纳综合征肾畸形患者Collectrin基因筛查
3. Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1beta gene mutations. [J] . DAmato E, dAnnunzio G, Calcaterra V, Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2008,第1期

机译：特纳综合征中的马蹄形肾畸形与HNF-1beta基因突变无关。
4. Clinical Value of Ultrasonography in Screening Turner Syndrome (45,X) During the Second Trimester [C] . PAN Yu-ping International Conference on Measurement, Instrumentation and Automation . 2017

机译：超声检查在筛选综合征（45，X）的临床价值
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. Genetic Advances in Craniofacial Malformations: Genetic Screening in Patients with Craniofacial Malformations [O] . Amanda J. Yoon, Binh N. Pham, Katrina M. Dipple 2016

机译：颅面畸形的遗传学进展：颅面畸形患者的基因筛查
7. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood [O] . Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, 2019

机译：X染色体基因剂量作为先天性畸形的决定因素和特纳综合征患者的年龄相关的合并症，从童年到成年早期

Collectrin gene screening in Turner syndrome patients with kidney malformation

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