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Elsevier电子期刊(17)

在“Elsevier电子期刊”中，命中：17条，耗时：0.0149929 秒

在所有数据库中总计命中：22条

1.Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features

作者：Rosamaria Silipigni^a ; ^{rosamariasilipigni@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Elisa Cattaneo^b ; Marco Baccarin^a ; Monica Fumagalli^c ; Maria Francesca Bedeschi^b

关键词：Deletion 2p11.2p12 ; CGH array ; Bilateral choanal atresia ; Atrial septal defect ; Developmental delay ; Facial anomalies ; CTNNA2 ; LRRTM1 ; REEP1

刊名：European Journal of Medical Genetics

出版年：2016

2.Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects

作者：Ting-Ying Lei ; Ru Li ; Fang Fu ; Jun-Hui Wan ; Yong-Ling Zhang ; Xiang-Yi Jing ; Can Liao ; ^{canliao@hotmail.com}

关键词：chromosome microarray analysis ; congenital heart defects ; increased nuchal translucency ; prenatal diagnosis ; Smith&ndash ; Magenis syndrome

刊名：Taiwanese Journal of Obstetrics and Gynecology

出版年：2016

3.Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12

作者：Maria Santa Rocca^a ; ^{uisius@libero.it} ; Antonella Fabretto^a ; Flavio Faletra^a ; Ombretta Carlet^b ; Aldo Skabar^a ; Paolo Gasparini^a ; Vanna Pecile^a

关键词：SPG31 ; Spastic paraplegia 31 ; HSP ; Hereditary Spastic Paraplegia

刊名：Gene

出版年：2012

4.Nucleocytosolic Depletion of the Energy Metabolite Acetyl-Coenzyme A Stimulates Autophagy and Prolongs Lifespan

作者：Tobias Eisenberg¹ ; ¹⁷ ; Sabrina Schroeder¹ ; ¹⁷ ; Aleksandra Andryushkova¹ ; ¹⁷ ; Tobias Pendl¹ ; Victoria Kü ; ttner² ; ³ ; Anuradha Bhukel⁴ ; ⁵ ; Guillermo Mariñ ; o⁶ ; ⁷ ; ⁸ ; Federico Pietrocola⁶ ; ⁷ ; ⁸ ; Alexandra Harger¹ ; ⁹ ; Andreas Zimmermann¹ ; Tarek Moustafa¹ ; Adrian Sprenger² ; ³ ; Evelyne Jany¹ ; Sabrina Bü ; ttner¹ ; Didac Carmona-Gutierrez¹ ; Christoph Ruckenstuhl¹ ; Julia Ring¹ ; Wieland Reichelt¹ ; Katharina Schimmel¹ ; Tina Leeb¹ ; Claudia Moser¹ ; Stefanie Schatz¹ ; Lars-Peter Kamolz¹⁰ ; Christoph Magnes¹¹ ; Frank Sinner⁹ ; ¹¹ ; Simon Sedej¹² ; Kai-Uwe Frö ; hlich¹ ; Gabor Juhasz¹³ ; Thomas R. Pieber⁹ ; ¹¹ ; Jö ; rn Dengjel² ; ³ ; Stephan J. Sigrist⁴ ; ⁵ ; Guido Kroemer⁶ ; ⁷ ; ⁸ ; ¹⁴ ; ¹⁵ ; ¹⁶ ; ¹⁸ ; ^{kroemer@orange.fr" class="auth_mail} ; Frank Madeo¹ ; ¹⁸ ; ^{frank.madeo@uni-graz.at" class="auth_mail}

刊名：Cell Metabolism

出版年：4 March, 2014

5.Identification of chromosome abnormalities in screening of a family with manic depression and psoriasis: Predisposition to aneuploidy

作者：Osman Demirhan^a ; ^{osdemir@cu.edu.tr} ; Bü ; lent Demirbek^b ; Erdal Tunç ; ^a ; ?nayet Nur Uslu^a ; Salih Ç ; etiner^c ; Ay?e Serin^d

关键词：Bipolar affective disorder or manic depression ; Psoriasis ; Chromosomal aberrations ; Immunological markers

刊名：Asian Journal of Psychiatry

出版年：2012

6.Partial Trisomy 16p (16p12.2→pter) and Partial Monosomy 22q (22q13.31 →qter) Presenting With Fetal Ascites and Ventriculomegaly: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization

作者：Chih-Ping Chen^a ; ^b ; ^c ; ^d ; ^e ; ^f ; ^{cpc_mmh@yahoo.com} ; Yi-Ning Su^g ; Richard Shih-Hung Young^h ; Fuu-Jen Tsai^d ; ⁱ ; Pei-Chen Wu^a ; Schu-Rern Chern^b ; Dai-Dyi Town^a ; Chen-Wen Pan^a ; Wayseen Wang^b ; ^j

关键词：chromosome 16 ; chromosome 22 ; fetal ascites ; monosomy 22q ; trisomy 16p ; ventriculomegaly

刊名：Taiwanese Journal of Obstetrics and Gynecology

出版年：2010

7.A new dic(7;12)(p12.21;p12.2) chromosome aberration in a case of acute myeloid leukemia

作者：Cinzia Tapinassi ; Elvira Gerbino ; Omar Malazzi ; Carla Micucci ; Patrizia Gasparini ; Maria J. Najera ; Maria J. Calasanz ; Maria D. Odero ; Pier Giuseppe Pelicci ; Elena Belloni

刊名：Cancer Genetics and Cytogenetics

出版年：2008

8.High-resolution oligonucleotide array comparative genomic hybridization study and methylation status of the RPS14 gene in de novo myelodysplastic syndromes

作者：Ioana Borze ; Eeva Juvonen ; Shinsuke Ninomiya ; Kowan Ja Jee ; Erkki Elonen ; Sakari Knuutila

刊名：Cancer Genetics and Cytogenetics

出版年：2010

9.Genomic aberrations in squamous cell lung carcinoma related to lymph node or distant metastasis

作者：Mirjam C. Boelens ; Klaas Kok ; Pieter van der Vlies ; Gerben van der Vries ; Hannie Sietsma ; Wim Timens ; Dirkje S. Postma ; Harry J.M. Groen ; Anke van den Berg

关键词：Squamous cell lung carcinoma ; Array-CGH ; Lymph node metastases ; Distant metastases ; LDM ; Chromosomal aberrations

刊名：Lung Cancer

出版年：2009

10.Heterogeneity of PLAG1 gene rearrangements in pleomorphic adenoma

作者：Jothy K ; asamy ; Arabella Smith ; Sara Diaz ; Barbara Rose ; Christopher O'Brien

关键词：Antibacterial ; Skin graft ; Fixation ; Infection ; Graft reject

刊名：Cancer Genetics and Cytogenetics

出版年：2007

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