作者： Shinichiro Kawamoto ; Katsuya Yamamoto…

关键词：CML ; Constitutional ; Non ; Robertsonian translocation ; t(8 ; 22)

刊名：International Journal of Hematology

出版年：2017

作者： Zimu Gong ; Lan Zheng ; Zhenya Tang ; Zi Chen ; Wei Wang ; Shi Bai…

刊名：Annals of Hematology

出版年：2017

作者： Helen Louise Lund ; Curtis B. Hughesman…

关键词：BCR ; ABL ; Molecular diagnostics ; Philadelphia chromosome ; Cancer diagnostics ; Digital PCR ; Chronic myeloid leukemia

刊名：Analytical and Bioanalytical Chemistry

出版年：2016

作者： Alice Fabarius ; Lida Kalmanti ; Christian T. Dietz ; Michael Lauseker…

关键词：Chronic myeloid leukaemia ; Balanced and unbalanced karyotypes ; Cytogenetics ; Prognosis ; Outcome

刊名：Annals of Hematology

出版年：2015

作者：Dayane B. Koshiyama (1)
Marcelo E. Z. Capra (2)
Giorgio A. Paskulin (1)
Rafael F. M. Rosa (1)
Ceres A. V. Oliveira (3)
Tito Vanelli (2)
Laura M. Fogliatto (4)
Paulo R. G. Zen (1)

关键词：Variant Ph ; CML ; Complex translocation ; Imatinib mesylate

刊名：Annals of Hematology

出版年：2013

作者：Manisha M. Brahmbhatt (1)
Pina J. Trivedi (1)
Dharmesh M. Patel (1)
Shilin N. Shukla (2)
Prabhudas S. Patel (1)

关键词：BCR/ABL ; FISH ; CML ; Philadelphia chromosome

刊名：Indian Journal of Hematology and Blood Transfusion

出版年：2014

作者： Revathi Raj ; M. Deenadayalan ; G. Vimal Kumar…

刊名：Indian Journal of Hematology and Blood Transfusion

出版年：2014

作者：Berta Almoguera (1)
Sijie He (2) (3)
Marta Corton (4) (5)
Patricia Fernandez-San Jose (4) (5)
Fiona Blanco-Kelly (4) (5)
Maria Isabel L贸pez-Molina (5) (6)
Blanca Garc铆a-Sandoval (5) (6)
Javier del Val (7)
Yiran Guo (1)
Lifeng Tian (1)
Xuanzhu Liu (3)
Liping Guan (3)
Rosa J Torres (8)
Juan G Puig (9)
Hakon Hakonarson (1)
Xun Xu (10) (3)
Brendan Keating (1)
Carmen Ayuso (4) (5)

1. Center for Applied Genomics ; The Children鈥檚 Hospital of Philadelphia ; Philadelphia ; PA ; 19104 ; USA
2. College of Life Sciences ; University of Chinese Academy of Sciences ; Beijing ; 100049 ; China
3. BGI-Shenzhen ; Shenzhen ; 518083 ; China
4. Department of Genetics and Genomics ; IIS-Fundaci贸n Jim茅nez D铆az University Hospital (IISFJD ; UAM) ; 28040 ; Madrid ; Spain
5. Center for Biomedical Network Research on Rare Diseases (CIBERER) ; ISCIII ; Madrid ; Spain
6. Department of Ophthalmology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
7. Department of Neurology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
8. Department of Biochemistry ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
9. Department of Internal Medicine ; Metabolic-Vascular Unit ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
10. The Guangdong Enterprise Key Laboratory of Human Disease Genomics ; Shenzhen ; China

关键词：PRPS1 ; Retinitis pigmentosa ; Non ; random X ; chromosome inactivation ; Phosphoribosyl pyrophosphate synthetase deficiency ; Neuropathy

刊名：Orphanet Journal of Rare Diseases

出版年：2014

作者：Marka van Blitterswijk (1)
Bianca Mullen (1)
Aleksandra Wojtas (1)
Michael G Heckman (2)
Nancy N Diehl (2)
Matthew C Baker (1)
Mariely DeJesus-Hernandez (1)
Patricia H Brown (1)
Melissa E Murray (1)
Ging-Yuek R Hsiung (3)
Heather Stewart (3)
Anna M Karydas (4)
Elizabeth Finger (5)
Andrew Kertesz (5)
Eileen H Bigio (6)
Sandra Weintraub (6)
Marsel Mesulam (6)
Kimmo J Hatanpaa (7)
Charles L White III (7)
Manuela Neumann (8)
Michael J Strong (9)
Thomas G Beach (10)
Zbigniew K Wszolek (11)
Carol Lippa (12)
Richard Caselli (13)
Leonard Petrucelli (1)
Keith A Josephs (14)
Joseph E Parisi (14)
David S Knopman (14)
Ronald C Petersen (14)
Ian R Mackenzie (15)
William W Seeley (4)
Lea T Grinberg (4)
Bruce L Miller (4)
Kevin B Boylan (11)
Neill R Graff-Radford (11)
Bradley F Boeve (14)
Dennis W Dickson (1)
Rosa Rademakers (1)

1. Department of Neuroscience ; Mayo Clinic ; 4500 San Pablo Road ; Jacksonville ; FL ; 32224 ; USA
2. Section of Biostatistics ; Mayo Clinic ; 4500 San Pablo Road ; Jacksonville ; FL ; 32224 ; USA
3. Division of Neurology ; University of British Columbia ; 2211 Wesbrook Mall ; Vancouver ; BC ; V6T 2B5 ; Canada
4. Department of Neurology ; University of California ; 500 Parnassus Ave ; San Francisco ; CA ; 94143 ; USA
5. The University of Western Ontario ; 1151 Richmond St ; London ; ON ; N6A 3 K7 ; Canada
6. Cognitive Neurology and Alzheimer鈥檚 Disease Center ; Northwestern University Feinberg School of Medicine ; 320 East Superior Street ; Chicago ; IL ; 60611 ; USA
7. University of Texas Southwestern Medical Center ; 5323 Harry Hines Blvd ; Dallas ; TX ; 75390 ; USA
8. Department of Neuropathology ; University of T眉bingen and German Center for Neurodegenerative Diseases ; Calwerstr. 3 ; T眉bingen ; 72076 ; Germany
9. Molecular Brain Research Group ; Robarts Research Institute ; 100 Perth Drive ; London ; ON ; N6A 5 K8 ; Canada
10. Banner Sun Health Research Institute ; 10515 W Santa Fe Dr ; Sun City ; AZ ; 85351 ; USA
11. Department of Neurology ; Mayo Clinic ; 4500 San Pablo Road ; Jacksonville ; FL ; 32224 ; USA
12. Department of Neurology ; Drexel University College of Medicine ; 2900 W Queen Ln ; Philadelphia ; PA ; 19129 ; USA
13. Department of Neurology ; Mayo Clinic ; 5777 E Mayo Blvd ; Phoenix ; AZ ; 85054 ; USA
14. Department of Neurology ; Mayo Clinic ; 1216 2nd St SW ; Rochester ; MN ; 55902 ; USA
15. Department of Pathology and Laboratory Medicine ; University of British Columbia ; 2329W Mall ; Vancouver ; BC ; V6T 1Z4 ; Canada

关键词：C9ORF72 ; Frontotemporal dementia ; Motor neuron disease ; Genetic modifier ; Repeat expansion

刊名：Molecular Neurodegeneration

出版年：2014

作者：Ayda Bennour (1)
Ines Ouahchi (2)
Yosra Ben Youssef (2)
Monia Zaier (2)
Mohamed Adnéne Laatiri (3)
Imed Harrabi (4)
Balkis Meddeb (5)
Moez Elloumi (6)
Abderrahim Khelif (2)
Ali Saad (1)
Halima Sennana (1)

关键词：Chronic myeloid leukemia ; Deletion on derivative chromosome 9 ; Fluorescence in situ hybridization ; Cytogenetic response ; Imatinib ; Hydroxyurea ; Philadelphia chromosome ; Variant Philadelphia rearrangement

刊名：Medical Oncology

出版年：2012