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Results 1 to 25 of 495

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Genome-wide-array-based comparative genomic hybridization reveals genetic homogeneity and frequent copy number increases encompassing CCNE1 in fallopian tube carcinomaSNIJDERS, Antoine M; NOWEE, Marlies E; FRIDLYAND, Jane et al.Oncogene (Basingstoke). 2003, Vol 22, Num 27, pp 4281-4286, issn 0950-9232, 6 p.Article

Shaping of tumor and drug-resistant genomes by instability and selectionSNIJDERS, Antoine M; FRIDLYAND, Jane; MANS, Dorus A et al.Oncogene (Basingstoke). 2003, Vol 22, Num 28, pp 4370-4379, issn 0950-9232, 10 p.Article

Recent advances in array comparative genomic hybridization technologies and their applications in human geneticsLOCKWOOD, William W; CHARI, Raj; CHI, Bryan et al.European journal of human genetics. 2006, Vol 14, Num 2, pp 139-148, issn 1018-4813, 10 p.Article

Familial 16q24.3 Microdeletion Involving ANKRD11 Causes a KBG-Like SyndromeSACHAROW, Stephanie; DELING LI; YAO SHAN FAN et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 547-552, issn 1552-4825, 6 p.Article

Case Report Supporting That the Barber―Say and Ablepharon Macrostomia Syndromes Could Represent One DisorderHAENSEL, Jennifer; KOHLSCHMIDT, Nicolai; PITZ, Susanne et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 10, pp 2236-2240, issn 1552-4825, 5 p.Article

Microdeleción 7p14.1 y cefalopolisindactilia de Greig = 7p14.1 microdeletion and Greig cephalopolysyndactyly syndromeMONTORO CREMADES, D; MANCHON TRIVES, I; BOTELLA LOPEZ, V et al.Anales de pediatria (2003. Ed. impresa). 2011, Vol 74, Num 4, pp 266-269, issn 1695-4033, 4 p.Article

Insights from genomic microarrays into structural chromosome rearrangementsKNIJNENBURG, Jeroen; SZUHAI, Karoly; GILTAY, Jacques et al.American journal of medical genetics. 2005, Vol 132A, Num 1, pp 36-40, issn 0148-7299, 5 p.Article

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)DE RAVEL, Thomy J. L; DEVRIENDT, Koen; FRYNS, Jean-Pierre et al.European journal of pediatrics. 2007, Vol 166, Num 7, pp 637-643, issn 0340-6199, 7 p.Article

From chromosomes to molecular karyotyping : Interstitial 6q deletion : clinical and array CGH characterisation of a new patientLE CAIGNEC, Cédric; SWILLEN, Ann; VAN ASCHE, Elvire et al.European journal of medical genetics. 2005, Vol 48, Num 3, pp 339-345, issn 1769-7212, 7 p.Article

Síndrome de microduplicación 3q29 = 3q29 microduplication syndromeBLANQUER, F. Aleixandre; MANCHON TRIVES, I; FORNIES ARNAU, M. J et al.Anales de pediatria (2003. Ed. impresa). 2011, Vol 75, Num 6, pp 409-412, issn 1695-4033, 4 p.Article

From chromosomes to molecular karyotyping : Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysisMATTHAEI, Anja; WEMER, Walter; SCHROCK, Evelin et al.European journal of medical genetics. 2005, Vol 48, Num 3, pp 328-338, issn 1769-7212, 11 p.Article

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1THIENPONT, Bernard; DIMITRIADOU, Eftychia; THEODOROPOULOS, Katerina et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 393-397, issn 1769-7212, 5 p.Article

Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable = 15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivitySEMPERE PEREZ, A; MANCHON TRIVES, I; PALAZON AZORIN, I et al.Anales de pediatria (2003. Ed. impresa). 2011, Vol 75, Num 1, pp 58-62, issn 1695-4033, 5 p.Article

High-resolution array-based comparative genomic hybridization of medulloblastomas and supratentorial primitive neuroectodermal tumorsMCCABE, Martin Gerard; ICHIMURA, Koichi; LU LIU et al.Journal of neuropathology and experimental neurology. 2006, Vol 65, Num 6, pp 549-561, issn 0022-3069, 13 p.Article

Challenges in Clinical Interpretation of Microduplications Detected by Array CGH Analysis : Microduplication syndromesSTANKIEWICZ, Pawel; PURSLEY, Amber N; SAU WAI CHEUNG et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 5, pp 1089-1100, issn 1552-4825, 12 p.Article

The clinical utility of enhanced subtelomeric coverage in array CGHBALLIF, Blake C; SULPIZIO, Scott G; LLOYD, Richard M et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 16, pp 1850-1857, issn 1552-4825, 8 p.Article

Identification of significant regional genetic variations using continuous CNV values in aCGH dataKIM, Ki-Yeol; GUI YOUN LEE; KIM, Jin et al.Genomics (San Diego, Calif.). 2009, Vol 94, Num 5, pp 317-323, issn 0888-7543, 7 p.Article

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growthLYNCH, Sally Ann; FOULDS, Nicola; COSTIGAN, Colm et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 534-539, issn 1018-4813, 6 p.Article

Pontocerebellar Hypoplasia in Association With De Novo 19p13.11p13.12 MicrodeletionGALLANT, Natalie M; BALDWIN, Erin; SALAMON, Noriko et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2871-2878, issn 1552-4825, 8 p.Article

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2BALLIF, B. C; THEISEN, A; MCDONALD-MCGINN, D. M et al.Clinical genetics. 2008, Vol 74, Num 5, pp 469-475, issn 0009-9163, 7 p.Article

De Novo Interstitial Deletion of Chromosome 2 (p23p24)SU, Pen-Hua; CHEN, Jia-Yuh; TSAO, Teng-Fu et al.Pediatrics & neonatology (Print). 2011, Vol 52, Num 1, pp 46-50, issn 1875-9572, 5 p.Article

Further Evidence for the Pathogenicity of 15q24 Microduplications Distal to the Minimal Critical RegionsROETZER, Katharina M; SCHWARZBRAUN, Thomas; OBENAUF, Anna C et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 12, pp 3173-3178, issn 1552-4825, 6 p.Article

What can we learn from old microdeletion syndromes using array-CGH screening?MOSCA-BOIDRON, A. L; BOUQUILLON, S; MANOUVRIER-HANU, S et al.Clinical genetics. 2012, Vol 82, Num 1, pp 41-47, issn 0009-9163, 7 p.Article

A De Novo 2.1-Mb Deletion of 13q12.11 in a Child With Developmental Delay and Minor Dysmorphic FeaturesDERKALOUSTIAN, VazkenM; RUSSELL, Laura; ARADHYA, Swaroop et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 10, pp 2538-2542, issn 1552-4825, 5 p.Article

Epigenetic Profiling of the H19 Differentially Methylated Region and Comprehensive Whole Genome Array-Based Analysis in Silver—Russell SyndromeLIN, Shin-Yu; LEE, Chien-Nan; CHEN, Lang-Yao et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2521-2528, issn 1552-4825, 8 p.Article

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