Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Kuentz Paul; St-Onge Judith; Duffourd Yannis; Courcet Jean-Benoit; Carmignac Virginie; Jouan Thibaud; Sorlin Arthur; Abasq-Thomas Claire; Albuisson Juliette; Amiel Jeanne; Amram Daniel; Arpin Stephanie; Attie-Bitach Tania; Bahi-Buisson Nadia; Barbarot Sebastien; Baujat Genevieve; Bessis Didier; Boccara Olivia; Bonniere Maryse; Boute Odile; Bursztejn Anne-Claire; Chiaverini Christine; Cormier-Daire Valerie; Coubes Christine; Delobel Bruno; Edery Patrick; El Chehadeh Salima; Francannet Christine; Genevieve David; Goldenberg Alice; Haye Damien; Isidor Bertrand; Jacquemont Marie-Line; Van Kien Philippe Khau; Lacombe Didier; Martin Ludovic; Martinovic Jelena; Maruani Annabel; Mathieu-Dramard Michele; Mazereeuw-Hautier Juliette; Michot Caroline; Mignot Cyril; Miquel Juliette; Morice-Picard Fanny; Petit Florence; Phan Alice; Rossi Massimiliano; Touraine Renaud; Verloes Alain; Vincent Marie; Vincent-Delorme Catherine; Whalen Sandra; Willems Marjolaine; Marle Nathalie; Lehalle Daphne; Thevenon Julien; Thauvin-Robinet Christel; Hadj-Rabia Smail; Faivre Laurence; Vabres Pierre; Riviere Jean-Baptiste

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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

机译：PIK3CA相关的过度生长谱（PROS）在162名患者中的分子诊断和遗传测试的建议

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Purpose: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS.

机译：目的：PIK3CA的Postzycotic激活突变导致广泛的马赛克疾病，共同称为Pik3CA相关的过度生长谱（专利）。我们描述了Pik3CA测序在优点中的诊断产量和特征。

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《Genetics in medicine》 |2017年第9期|共9页
作者
Kuentz Paul; St-Onge Judith; Duffourd Yannis; Courcet Jean-Benoit; Carmignac Virginie; Jouan Thibaud; Sorlin Arthur; Abasq-Thomas Claire; Albuisson Juliette; Amiel Jeanne; Amram Daniel; Arpin Stephanie; Attie-Bitach Tania; Bahi-Buisson Nadia; Barbarot Sebastien; Baujat Genevieve; Bessis Didier; Boccara Olivia; Bonniere Maryse; Boute Odile; Bursztejn Anne-Claire; Chiaverini Christine; Cormier-Daire Valerie; Coubes Christine; Delobel Bruno; Edery Patrick; El Chehadeh Salima; Francannet Christine; Genevieve David; Goldenberg Alice; Haye Damien; Isidor Bertrand; Jacquemont Marie-Line; Van Kien Philippe Khau; Lacombe Didier; Martin Ludovic; Martinovic Jelena; Maruani Annabel; Mathieu-Dramard Michele; Mazereeuw-Hautier Juliette; Michot Caroline; Mignot Cyril; Miquel Juliette; Morice-Picard Fanny; Petit Florence; Phan Alice; Rossi Massimiliano; Touraine Renaud; Verloes Alain; Vincent Marie; Vincent-Delorme Catherine; Whalen Sandra; Willems Marjolaine; Marle Nathalie; Lehalle Daphne; Thevenon Julien; Thauvin-Robinet Christel; Hadj-Rabia Smail; Faivre Laurence; Vabres Pierre; Riviere Jean-Baptiste;
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作者单位

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

Univ Bourgogne Franche Comte Genet Anomalies Dev Equipe Accueil 4271 Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Brest Morvan Dept Pediat &

Genet Med Brest France;

Hop Europeen Georges Pompidou Ctr Reference Malad Vasc Rares Paris France;

Hop Necker Enfants Malad Serv Genet Med Paris France;

CHI Creteil Unite Genet Clin Creteil France;

CHRU Tours Serv Genet Clin Tours France;

Hop Necker Enfants Malad Serv Histol Embryol Cytogenet Paris France;

Hop Necker Enfants Malad Serv Genet Med Paris France;

CHU Nantes Serv Dermatol Nantes France;

Hop Necker Enfants Malad Serv Genet Med Paris France;

CHRU Montpellier Dept Dermatol Montpellier France;

Univ Paris 05 Hop Univ Necker Enfants Malad Sorbonne Paris Cite Dept Dermatol Inst Imagine;

Hop Necker Enfants Malad Serv Histol Embryol Cytogenet Paris France;

CHU Lille Serv Genet Clin Lille France;

CHU Nancy Serv Dermatol Nancy France;

CHU Nice Serv Dermatol Nice France;

Hop Necker Enfants Malad Serv Genet Med Paris France;

CHRU Montpellier Dept Genet Med Malad Rares &

Med Personnalisee Montpellier France;

GH Inst Catholique Lille Ctr Genet Chromos Lille France;

Hosp Civils Lyon Dept Genet Lyon France;

Hop Hautepierre Hop Univ Strasbourg Serv Genet Med Strasbourg France;

CHU Clermont Ferrand Serv Genet Med Clermont Ferrand France;

CHRU Montpellier Dept Genet Med Malad Rares &

Med Personnalisee Montpellier France;

CHU Rouen Serv Genet Rouen France;

CHU Tours Serv Pediat Tours France;

CHU Nantes Serv Genet Med Nantes France;

CHU Reunion Unite Genet Med St Pierre St Pierre &

Miq France;

CHU Nimes Unite Genet Med &

Cytogenet Nimes France;

Univ Bordeaux CHU Bordeaux Serv Genet Med INSERM U1211 Bordeaux France;

CHU Angers Serv Dermatol Angers France;

Hop Antoine Beclere APHP Unite Foetopathol Clamart France;

Univ Tours Serv Dermatol Unite Dermatol Pediat CIC Inserm 1415 Tours France;

CHU Amiens Ctr Activ Genet Clin &

Oncogenet Amiens France;

CHU Toulouse Ctr Reference Malad Rares Peau Toulouse France;

Hop Necker Enfants Malad Serv Genet Med Paris France;

GH La Pitie Salpetriere APHP Dept Genet &

Cytogenet Ctr Reference Deficiences Intellectuelles;

CHU Reunion Serv Pediat Gen St Pierre St Pierre &

Miq France;

Univ Bordeaux CHU Bordeaux Serv Genet Med INSERM U1211 Bordeaux France;

CHU Lille Serv Genet Clin Lille France;

CHU Lyon Serv Dermatol Lyon France;

Hosp Civils Lyon Dept Genet Lyon France;

CHU St Etienne Serv Genet Clin St Priest En Jarez France;

Hop Robert Debre Unite Fonct Genet Clin Paris France;

CHU Nantes Serv Genet Med Nantes France;

CHU Lille Serv Genet Clin Lille France;

Hop Armand Trousseau Unite Fonct Genet Clin Paris France;

CHRU Montpellier Dept Genet Med Malad Rares &

Med Personnalisee Montpellier France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

Univ Paris 05 Hop Univ Necker Enfants Malad Sorbonne Paris Cite Dept Dermatol Inst Imagine;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

CHU Dijon Bourgogne Federat Hosp Univ Med Translat &

Anomalies Dev Dijon France;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
molecular diagnosis; mosaicism; next-generation sequencing; PIK3CA; PIK3CA-related overgrowth spectrum;

机译：分子诊断;镶嵌;下一代测序;PIK3CA;PIK3CA相关的过度生长谱;

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专利

1. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing [J] . Kuentz Paul, St-Onge Judith, Duffourd Yannis, Genetics in medicine . 2017,第9期

机译：PIK3CA相关的过度生长谱（PROS）在162名患者中的分子诊断和遗传测试的建议
2. In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) [J] . Ranieri C., Di Tommaso S., Loconte D. C., Neurogenetics . 2018,第2期

机译：ARQ 092的体外功效，血浆AKT抑制剂对衍生自PIK3CA相关的过度生长谱（专业人员）的患者源自患者的原发性成纤维细胞
3. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience [J] . Hu Xuyun, Li Niu, Xu Yufei, Genetics in medicine . 2018,第9期

机译：仅证明实验室医疗外壳测序作为患者的经济高效的遗传诊断试验，患者没有先前的分子试验和发展中国家的临床诊断：中国经验
4. IR spectrum comparison of the blood of breast cancer patients as a preliminary stage of further molecular genetic screening [C] . Olexander Peresunko, Tatiana Kruk, Sergey Yermolenko Conference on Applications of Digital Image Processing . 2020

机译：乳腺癌患者血液的IR谱比较作为进一步分子遗传筛查的初步阶段
5. Novel approaches for the diagnosis of protein -losing enteropathy and small -intestinal bacterial overgrowth in dogs. [D] . Melgarejo-Garcia, Luis Tonatiuth. 1999

机译：诊断犬蛋白丢失性肠病和小肠细菌过度生长的新方法。
6. PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria Differential Diagnosis and Evaluation [O] . Kim M. Keppler-Noreuil, Jonathan J. Rios, Victoria E.R. Parker, -1

机译：PIK3CA相关的过度生长谱（PROS）：诊断和测试资格标准差异诊断和评估
7. Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors. [O] . Daria C Loconte, Valentina Grossi, Cristina Bozzao, 2015

机译：pIK3Ca相关的过度生长谱（pROs）患者中三种不同的杂合突变的分子和功能表征：对pI3K / aKT / mTOR信号的影响和对pIK3抑制剂的敏感性。

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

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