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1.
428 Accesses
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Isochromosome 13 in a patient with
childhood-onset schizophrenia, ADHD, and motor tic disorder
Sharon L Graw, Karen Swisshelm, Kirsten Floyd, Billie J Carstens, Marianne Z Wamboldt, Randall G Ross, Sherry Leonard Molecular Cytogenetics 2012, 5:2 (3 January 2012)
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2.
425 Accesses
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Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene.
Mileny E S Colovati, Luciana R J da Silva, Sylvia S Takeno, Tatiane I Mancini, Ana R N Dutra, Roberta S Guilherme, Claudia B de Mello, Maria I Melaragno, Ana B A Perez Molecular Cytogenetics 2012, 5:5 (19 January 2012)
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3.
416 Accesses
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The genome diversity and karyotype evolution of mammals
Alexander S Graphodatsky, Vladimir A Trifonov, Roscoe Stanyon Molecular Cytogenetics 2011, 4:22 (12 October 2011)
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4.
375 Accesses
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Human interphase chromosomes: a review of available molecular cytogenetic technologies
Svetlana G Vorsanova, Yuri B Yurov, Ivan Y Iourov Molecular Cytogenetics 2010, 3:1 (11 January 2010)
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5.
374 Accesses
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Spectral Karyotyping for Identification of Constitutional Chromosomal Abnormalities at a National Reference Laboratory
Arturo Anguiano, Boris T Wang, Shirong R Wang, Fatih Z Boyar, Loretta W Mahon, Mohamed M El Naggar, Peter H Kohn, Mary H Haddadin, Vladimira Sulcova, Adam H Sbeiti, Mervat S Ayad, Beverly J White, Charles M Strom Molecular Cytogenetics 2012, 5:3 (16 January 2012)
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6.
340 Accesses
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A recurrent translocation is mediated by homologous recombination between HERV-H elements
Karen E. Hermetz, Urvashi Surti, Jannine D. Cody, M. Katharine Rudd Molecular Cytogenetics 2012, 5:6 (19 January 2012)
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7.
314 Accesses
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"Familial" versus "Sporadic" Intellectual Disability: Contribution of Common Microdeletion and Microduplication Syndromes
Maryam Rafati, Elaheh Seyyedaboutorabi, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihandoust, Mohammad R Eshraghian, Gholam R Javadi, Jila Dastan, Alireza Mosavi-Jarrahi, Azadeh Hoseini, Marzieh Purhoseini, Saeed R Ghaffari Molecular Cytogenetics 2012, 5:9 (29 January 2012)
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8.
300 Accesses
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Chromosomal mosaicism goes global
Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov Molecular Cytogenetics 2008, 1:26 (25 November 2008)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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9.
294 Accesses
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A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report
Orazio Palumbo, Pietro Palumbo, Teresa Palladino, Raffaella Stallone, Leopoldo Zelante, Massimo Carella Molecular Cytogenetics 2012, 5:1 (3 January 2012)
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10.
289 Accesses
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Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.
Karin Huijsdens-van Amsterdam, Daniela Q.C.M. Barge-Schaapveld, Inge B. Mathijssen, Marielle Alders, Eva Pajkrt, Alida C. Knegt Molecular Cytogenetics 2012, 5:8 (27 January 2012)
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11.
278 Accesses
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FISH mapping of Philadelphia negative BCR/ABL1 positive CML
Anna Virgili, Diana Brazma, Alistair G Reid, Julie Howard-Reeves, Mikel Valgañón, Anastasios Chanalaris, Valeria AS De Melo, David Marin, Jane F Apperley, Colin Grace, Ellie P Nacheva Molecular Cytogenetics 2008, 1:14 (18 July 2008)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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12.
255 Accesses
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"Familial" versus "Sporadic" Intellectual Disability: Contribution of Subtelomeric Rearrangements
Maryam Rafati, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Jila Dastan, Azadeh Hoseini, Marzieh Purhoseini, Saeed R Ghaffari Molecular Cytogenetics 2012, 5:4 (19 January 2012)
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13.
243 Accesses
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Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology
Galina G Hovhannisyan Molecular Cytogenetics 2010, 3:17 (15 September 2010)
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14.
235 Accesses
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Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
Angelique J.A. Kooper, Jacqueline J.P.M. Pieters, Brigitte H.W. Faas, Lies H. Hoefsloot, Ineke van der Burgt, Hans A. Zondervan, Arie P.T. Smits Molecular Cytogenetics 2012, 5:7 (27 January 2012)
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15.
229 Accesses
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On the origin of trisomy 21 Down syndrome
Maj A Hultén, Suketu D Patel, Maira Tankimanova, Magnus Westgren, Nikos Papadogiannakis, Anna Jonsson, Erik Iwarsson Molecular Cytogenetics 2008, 1:21 (18 September 2008)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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16.
220 Accesses
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Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis
Kathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, Lisa D McDaniel, Theresa C Brown, Raymond R Tubbs, James R Cook, Karl S Theil, Victoria Cawich, Caitlin Valentin, Sara Minier, Nicholas J Neill, Steve Byerly, S Morton, Trilochan Sahoo, Blake C Ballif, Lisa G Shaffer Molecular Cytogenetics 2011, 4:25 (16 November 2011)
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17.
217 Accesses
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Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
Paola Evangelidou, Carolina Sismani, Marios Ioannides, Christodoulos Christodoulou, George Koumbaris, Ioannis Kallikas, Ioannis Georgiou, Voula Velissariou, Philippos C Patsalis Molecular Cytogenetics 2010, 3:24 (26 November 2010)
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18.
198 Accesses
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Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report
Marina Pacheco, Douglas E Horsman, Malcolm M Hayes, Paul W Clarkson, Hassan Huwait, Torsten O Nielsen Molecular Cytogenetics 2010, 3:12 (2 July 2010)
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19.
197 Accesses
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Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
Ashutosh Halder, Manish Jain, Madhulika Kabra, Neerja Gupta Molecular Cytogenetics 2008, 1:18 (10 August 2008)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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20.
189 Accesses
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A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics
Yuri B Yurov, Thomas Liehr, Lisa G Shaffer, Ivan Y Iourov, Svetlana G Vorsanova Molecular Cytogenetics 2008, 1:1 (26 March 2008)
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21.
184 Accesses
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Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases
Sang-Jin Park, Eun Jung, Ran-Suk Ryu, Hyun Kang, Jung-Min Ko, Hyon J Kim, Chong Cheon, Sang-Hyun Hwang, Ho-Young Kang Molecular Cytogenetics 2011, 4:12 (9 May 2011)
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22.
173 Accesses
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Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
Renu Bajaj, Fang Xu, Bixia Xiang, Katherine Wilcox, Autumn J DiAdamo, Rachana Kumar, Alexandra Pietraszkiewicz, Stephanie Halene, Peining Li Molecular Cytogenetics 2011, 4:3 (20 January 2011)
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23.
160 Accesses
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X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation
Susana I Ferreira, Eunice Matoso, Marta Pinto, Joana Almeida, Thomas Liehr, Joana B Melo, Isabel M Carreira Molecular Cytogenetics 2010, 3:14 (20 July 2010)
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24.
161 Accesses
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Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X
Nanis S Marzuki, Helena W Anggaratri, Lita P Suciati, Debby D Ambarwati, Chrysantine Paramayuda, Hannie Kartapradja, Aman B Pulungan, Alida Harahap Molecular Cytogenetics 2011, 4:23 (12 October 2011)
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25.
155 Accesses
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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
Malgorzata I Srebniak, Marjan Boter, Carla M A Verboven-Peerden, Gerda A G Looye-Bruinsma, Gretel Oudesluijs, Robert-Jan H Galjaard, Diane Van Opstal Molecular Cytogenetics 2011, 4:27 (2 December 2011)
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