Andre Reis

Andre Reis

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Andre Reis

Publications by authors named "Andre Reis"

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Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.

Genet Med 2019 10 19;21(10):2345-2354. Epub 2019 Apr 19.

The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://www.nature.com/articles/s41436-019-0507-0
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http://dx.doi.org/10.1038/s41436-019-0507-0DOI Listing
October 2019

Targeted sequencing identifies novel variants in common and rare MODY genes.

Mol Genet Genomic Med 2019 Oct 8:e962. Epub 2019 Oct 8.

Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1002/mgg3.962DOI Listing
October 2019

Moist vs over-dried etched dentin: FE-SEM/TEM and bond strength evaluation of resin-dentin interfaces produced by universal adhesives.

J Esthet Restor Dent 2019 Oct 17. Epub 2019 Oct 17.

Department of Restorative Dental Sciences, Division of Operative Dentistry, University of Florida, Gainesville, Florida.

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http://dx.doi.org/10.1111/jerd.12537DOI Listing
October 2019

Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.

Arch Endocrinol Metab 2019 May-Jun;63(3):250-257. Epub 2019 May 2.

Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.

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http://dx.doi.org/10.20945/2359-3997000000138DOI Listing
September 2019

Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy.

Eur J Med Res 2019 Sep 14;24(1):32. Epub 2019 Sep 14.

Department of Gynecology and Obstetrics, Erlangen University Hospital, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Universitätsstraße 21-23, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s40001-019-0391-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744699PMC
September 2019

Phosphorus-zinc interactions in cotton: consequences for biomass production and nutrient-use efficiency in photosynthesis.

Physiol Plant 2019 Aug 5;166(4):996-1007. Epub 2018 Dec 5.

Center for Nuclear Energy in Agriculture, University of São Paulo, 13416-000, Piracicaba, SP, Brazil.

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http://dx.doi.org/10.1111/ppl.12867DOI Listing
August 2019

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.

Genet Med 2019 08 4;21(8):1790-1796. Epub 2019 Jan 4.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41436-018-0415-8DOI Listing
August 2019

Use of synthetic DNA spike-in controls (sequins) for human genome sequencing.

Nat Protoc 2019 Jul 19;14(7):2119-2151. Epub 2019 Jun 19.

Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, Australia.

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http://dx.doi.org/10.1038/s41596-019-0175-1DOI Listing
July 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

BMC Cancer 2019 May 10;19(1):435. Epub 2019 May 10.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s12885-019-5633-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511147PMC
May 2019

A novel human stem cell model for Coffin-Siris Syndrome like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival.

Hum Mol Genet 2019 Apr 29. Epub 2019 Apr 29.

Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany (FAU).

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http://dx.doi.org/10.1093/hmg/ddz089DOI Listing
April 2019

Tyrosinase Is a Novel Endogenous Regulator of Developmental and Inflammatory Lymphangiogenesis.

Am J Pathol 2019 02 16;189(2):440-448. Epub 2018 Nov 16.

Department of Ophthalmology, University of Cologne, Cologne, Germany; Center for Molecular Medicine, University of Cologne, Cologne, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029440173089
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http://dx.doi.org/10.1016/j.ajpath.2018.10.014DOI Listing
February 2019

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2019 01 11;179(1):50-56. Epub 2018 Dec 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60679
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http://dx.doi.org/10.1002/ajmg.a.60679DOI Listing
January 2019

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.

Ophthalmic Genet 2018 12 27;39(6):741-748. Epub 2018 Sep 27.

b Department of Ophthalmology , Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) , Erlangen , Germany.

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http://dx.doi.org/10.1080/13816810.2018.1520263DOI Listing
December 2018

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Am J Med Genet A 2018 12 18;176(12):2872-2876. Epub 2018 Nov 18.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.40640
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http://dx.doi.org/10.1002/ajmg.a.40640DOI Listing
December 2018

Selenium protects rice plants from water deficit stress.

Ecotoxicol Environ Saf 2018 Nov 24;164:562-570. Epub 2018 Aug 24.

School of Science and Engineering, São Paulo State University - UNESP, Postal Code 17602-496, Tupã, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ecoenv.2018.08.022DOI Listing
November 2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients.

Breast Cancer Res Treat 2018 Aug 3;171(1):85-94. Epub 2018 May 3.

Department of Gynecology and Obstetrics, Erlangen University Hospital, Comprehensive Cancer Center Erlangen-EMN, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1007/s10549-018-4797-8DOI Listing
August 2018

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Eur J Med Genet 2018 Jul 31;61(7):363-368. Epub 2018 Jan 31.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.016DOI Listing
July 2018

SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients.

Hum Pathol 2018 07 22;77:139-146. Epub 2018 Apr 22.

Institute of Pathology, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital of Erlangen, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.humpath.2018.04.004DOI Listing
July 2018

Adhesive/silane application effects on bond strength durability to a lithium disilicate ceramic.

J Esthet Restor Dent 2018 07 15;30(4):346-351. Epub 2018 May 15.

Department of Operative Dentistry, Guarulhos University. Praça Tereza Cristina, 229 Guarulhos, SP 07023-070, Brazil.

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http://dx.doi.org/10.1111/jerd.12387DOI Listing
July 2018

Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.

Geburtshilfe Frauenheilkd 2018 May 4;78(5):481-492. Epub 2018 Jun 4.

Department of Gynecology and Obstetrics, University Hospital Erlangen, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1055/a-0603-4350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986564PMC
May 2018

Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability.

BMC Med Genomics 2018 04 23;11(1):41. Epub 2018 Apr 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s12920-018-0358-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914069PMC
April 2018

Micro-computed tomography evaluation of volumetric polymerization shrinkage and degree of conversion of composites cured by various light power outputs.

Dent Mater J 2018 Jan 27;37(1):33-39. Epub 2017 Oct 27.

Department of Biomaterials and Biomimetics, New York University College of Dentistry.

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http://dx.doi.org/10.4012/dmj.2016-430DOI Listing
January 2018

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

Am J Med Genet A 2018 01 23;176(1):134-138. Epub 2017 Nov 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38529DOI Listing
January 2018

Federal procurement of unlicensed medicines in Brazil; findings and implications.

Expert Rev Pharmacoecon Outcomes Res 2017 Dec 13;17(6):607-613. Epub 2017 Apr 13.

a Department of Pharmaceutical Policies and Pharmaceutical Services , Sergio Arouca National School of Public Health, Oswaldo Cruz Foundation , Rio de Janeiro , Brazil.

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http://dx.doi.org/10.1080/14737167.2017.1311209DOI Listing
December 2017

Exome Pool-Seq in neurodevelopmental disorders.

Eur J Hum Genet 2017 12 20;25(12):1364-1376. Epub 2017 Nov 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41431-017-0022-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865117PMC
December 2017

Relationships between adiponectin levels, the metabolic syndrome, and type 2 diabetes: a literature review.

Arch Endocrinol Metab 2017 Dec;61(6):614-622

Programa de Pós-Graduação em Endocrinología, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil.

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http://dx.doi.org/10.1590/2359-3997000000316DOI Listing
December 2017

More than kin, less than kind: one family and the many faces of diabetes in youth.

Arch Endocrinol Metab 2017 Dec;61(6):637-642

Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP Brasil.

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http://dx.doi.org/10.1590/2359-3997000000312DOI Listing
December 2017

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

Am J Med Genet A 2017 Aug 24;173(8):2231-2234. Epub 2017 May 24.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38288DOI Listing
August 2017

Comparing depth-dependent curing radiant exposure and time of curing of regular and flow bulk-fill composites.

Braz Oral Res 2017 Aug 21;31:e65. Epub 2017 Aug 21.

University of Florida, College of Dentistry, Department of Restorative Dental Sciences, Gainesville, FL, United States of America.

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http://dx.doi.org/10.1590/1807-3107BOR-2017.vol31.0065DOI Listing
August 2017

Efficiency of polymerization of bulk-fill composite resins: a systematic review.

Braz Oral Res 2017 Aug 28;31(suppl 1):e59. Epub 2017 Aug 28.

Universidade de Guarulhos - UNG, Dental Research and Graduate Studies Division, Department of Restorative Dentistry, Guarulhos, SP, Brazil.

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http://dx.doi.org/10.1590/1807-3107BOR-2017.vol31.0059DOI Listing
August 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
July 2017

Adhesion of multimode adhesives to enamel and dentin after one year of water storage.

Clin Oral Investig 2017 Jun 7;21(5):1707-1715. Epub 2016 Oct 7.

Operative Dentistry Division, Department of Restorative Dentistry, Piracicaba Dental School, State University of Campinas, Av. Limeira, 901, Piracicaba, SP, 13414-903, Brazil.

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http://dx.doi.org/10.1007/s00784-016-1966-1DOI Listing
June 2017

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Authors:
Philip C Haycock Stephen Burgess Aayah Nounu Jie Zheng George N Okoli Jack Bowden Kaitlin Hazel Wade Nicholas J Timpson David M Evans Peter Willeit Abraham Aviv Tom R Gaunt Gibran Hemani Massimo Mangino Hayley Patricia Ellis Kathreena M Kurian Karen A Pooley Rosalind A Eeles Jeffrey E Lee Shenying Fang Wei V Chen Matthew H Law Lisa M Bowdler Mark M Iles Qiong Yang Bradford B Worrall Hugh Stephen Markus Rayjean J Hung Chris I Amos Amanda B Spurdle Deborah J Thompson Tracy A O'Mara Brian Wolpin Laufey Amundadottir Rachael Stolzenberg-Solomon Antonia Trichopoulou N Charlotte Onland-Moret Eiliv Lund Eric J Duell Federico Canzian Gianluca Severi Kim Overvad Marc J Gunter Rosario Tumino Ulrika Svenson Andre van Rij Annette F Baas Matthew J Bown Nilesh J Samani Femke N G van t'Hof Gerard Tromp Gregory T Jones Helena Kuivaniemi James R Elmore Mattias Johansson James Mckay Ghislaine Scelo Robert Carreras-Torres Valerie Gaborieau Paul Brennan Paige M Bracci Rachel E Neale Sara H Olson Steven Gallinger Donghui Li Gloria M Petersen Harvey A Risch Alison P Klein Jiali Han Christian C Abnet Neal D Freedman Philip R Taylor John M Maris Katja K Aben Lambertus A Kiemeney Sita H Vermeulen John K Wiencke Kyle M Walsh Margaret Wrensch Terri Rice Clare Turnbull Kevin Litchfield Lavinia Paternoster Marie Standl Gonçalo R Abecasis John Paul SanGiovanni Yong Li Vladan Mijatovic Yadav Sapkota Siew-Kee Low Krina T Zondervan Grant W Montgomery Dale R Nyholt David A van Heel Karen Hunt Dan E Arking Foram N Ashar Nona Sotoodehnia Daniel Woo Jonathan Rosand Mary E Comeau W Mark Brown Edwin K Silverman John E Hokanson Michael H Cho Jennie Hui Manuel A Ferreira Philip J Thompson Alanna C Morrison Janine F Felix Nicholas L Smith Angela M Christiano Lynn Petukhova Regina C Betz Xing Fan Xuejun Zhang Caihong Zhu Carl D Langefeld Susan D Thompson Feijie Wang Xu Lin David A Schwartz Tasha Fingerlin Jerome I Rotter Mary Frances Cotch Richard A Jensen Matthias Munz Henrik Dommisch Arne S Schaefer Fang Han Hanna M Ollila Ryan P Hillary Omar Albagha Stuart H Ralston Chenjie Zeng Wei Zheng Xiao-Ou Shu Andre Reis Steffen Uebe Ulrike Hüffmeier Yoshiya Kawamura Takeshi Otowa Tsukasa Sasaki Martin Lloyd Hibberd Sonia Davila Gang Xie Katherine Siminovitch Jin-Xin Bei Yi-Xin Zeng Asta Försti Bowang Chen Stefano Landi Andre Franke Annegret Fischer David Ellinghaus Carlos Flores Imre Noth Shwu-Fan Ma Jia Nee Foo Jianjun Liu Jong-Won Kim David G Cox Olivier Delattre Olivier Mirabeau Christine F Skibola Clara S Tang Merce Garcia-Barcelo Kai-Ping Chang Wen-Hui Su Yu-Sun Chang Nicholas G Martin Scott Gordon Tracey D Wade Chaeyoung Lee Michiaki Kubo Pei-Chieng Cha Yusuke Nakamura Daniel Levy Masayuki Kimura Shih-Jen Hwang Steven Hunt Tim Spector Nicole Soranzo Ani W Manichaikul R Graham Barr Bratati Kahali Elizabeth Speliotes Laura M Yerges-Armstrong Ching-Yu Cheng Jost B Jonas Tien Yin Wong Isabella Fogh Kuang Lin John F Powell Kenneth Rice Caroline L Relton Richard M Martin George Davey Smith

JAMA Oncol 2017 May;3(5):636-651

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, England2School of Social and Community Medicine, University of Bristol, Bristol, England.

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http://dx.doi.org/10.1001/jamaoncol.2016.5945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638008PMC
May 2017

Polymyxin-B and vancomycin-associated acute kidney injury in critically ill patients.

Pathog Glob Health 2017 May 29;111(3):137-142. Epub 2017 Mar 29.

a Department of Internal Medicine, School of Medicine, Post-Graduation Program in Medical Sciences , Federal University of Ceará , Fortaleza , Brazil.

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http://dx.doi.org/10.1080/20477724.2017.1309338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445639PMC
May 2017

Microcomputed Tomography Evaluation of Volumetric Shrinkage of Bulk-Fill Composites in Class II Cavities.

J Esthet Restor Dent 2017 Apr 7;29(2):118-127. Epub 2016 Dec 7.

Assistant Professor, Department of Biomaterials and Biomimetics, New York University College of Dentistry, New York, NY, USA.

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http://dx.doi.org/10.1111/jerd.12275DOI Listing
April 2017

Physiological highlights of manganese toxicity symptoms in soybean plants: Mn toxicity responses.

Plant Physiol Biochem 2017 Apr 25;113:6-19. Epub 2017 Jan 25.

UNESP - São Paulo State University, Postal Code 15385-000, Ilha Solteira, SP, Brazil; UNESP - São Paulo State University, Postal Code 17602-496, Tupã, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.plaphy.2017.01.022DOI Listing
April 2017

Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer.

Breast 2017 Apr 17;32:186-191. Epub 2017 Feb 17.

Friedrich-Alexander University Erlangen-Nürnberg (FAU), Department of Obstetrics and Gynecology, Erlangen University Hospital, University Breast Center for Franconia, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.breast.2017.02.008DOI Listing
April 2017

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

Am J Hum Genet 2017 Mar;100(3):555-561

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339287PMC
March 2017

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Int J Cancer 2017 Jan 23;140(1):95-102. Epub 2016 Sep 23.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1002/ijc.30428DOI Listing
January 2017

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.

JIMD Rep 2017 28;36:59-66. Epub 2017 Jan 28.

Section of Genetics and Biotechnology, School of Biology, University of Costa Rica, 11501-2060, San Jose, Costa Rica.

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http://dx.doi.org/10.1007/8904_2016_40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680285PMC
January 2017

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Eur J Med Genet 2016 Oct 7;59(10):549-53. Epub 2016 Sep 7.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.002DOI Listing
October 2016

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Am J Hum Genet 2016 Oct 8;99(4):912-916. Epub 2016 Sep 8.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2016.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065650PMC
October 2016

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Orphanet J Rare Dis 2016 Sep 29;11(1):130. Epub 2016 Sep 29.

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041579PMC
http://dx.doi.org/10.1186/s13023-016-0509-9DOI Listing
September 2016

α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy.

Acta Neuropathol 2016 07 8;132(1):59-75. Epub 2016 Apr 8.

Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 6, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1007/s00401-016-1572-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912450PMC
July 2016

Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations.

Diabetes Res Clin Pract 2016 Jun 26;116:100-4. Epub 2016 Apr 26.

Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.diabres.2016.04.035DOI Listing
June 2016