Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("Duplicación cromosómica")

Filter

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Origin

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 1162

  • Page / 47
Export

Selection :

  • and

Duplication of 18q21.32―q22.3 Identified in a Stillborn and Two Relatives With Minimal Dysmorphic FeaturesHENSON, Kaylee E; HINES, Karrie A; WEAVER, David D et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1788-1792, issn 1552-4825, 5 p.Article

Identification of a novel polymorphism : The duplication of the NPHP1 (Nephronophthisis 1) geneBARIS, Hagit; BEJJANI, Bassem A; IRONS, Mira B et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 17, pp 1876-1879, issn 1552-4825, 4 p.Article

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2WEIMIN BI; PARK, Sung-Sup; SHAW, Christine J et al.American journal of human genetics. 2003, Vol 73, Num 6, pp 1302-1315, issn 0002-9297, 14 p.Article

Rare 15q duplication in an abortusJALAL, S. M; DAY, D. W; NELSON, M. C et al.American journal of medical genetics. 1989, Vol 33, Num 3, pp 422-423, issn 0148-7299Article

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplicationsLOCKE, D. P; SEGRAVES, R; NICHOLLS, R. D et al.Journal of medical genetics. 2004, Vol 41, Num 3, pp 175-182, issn 0022-2593, 8 p.Article

Inverted duplications deletions: underdiagnosed rearrangements??ZUFFARDI, O; BONAGLIA, M; CICCONE, R et al.Clinical genetics. 2009, Vol 75, Num 6, pp 505-513, issn 0009-9163, 9 p.Article

MECP2 Duplication in a Patient With Congenital entral HypoventilationBELLIGNI, Elga F; PALMER, Rodger W; HENNEKAM, Raoul C. M et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 6, pp 1591-1593, issn 1552-4825, 3 p.Article

De Novo Duplication of 18p11.21-18q12.1 in a Female With Anorectal NialformationSCHRAMM, Charlotte; DRAAKEN, Markus; PRIEBE, Lutz et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 2, pp 445-449, issn 1552-4825, 5 p.Article

Familial 25.3 Mb Inverted Duplication of Bands q32.1 to q35.1 on Chromosome 4 With Psychomotor ImpairmentsMARTIN, Judith; SALEKI, Reza; CHRISTENSEN, Todd et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2624-2628, issn 1552-4825, 5 p.Article

Duplication of the STS Region in Males Is a Benign Copy-Number VariantFURROW, Aubry; THEISEN, Aaron; VELSHER, Lea et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 8, pp 1972-1975, issn 1552-4825, 4 p.Article

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLSFENG ZHANG; POTOCKI, Lorraine; WITHERS, Marjorie A et al.American journal of human genetics. 2010, Vol 86, Num 3, pp 462-470, issn 0002-9297, 9 p.Article

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotypeWOLFF, D. J; RAFFEL, L. J; FERRE, M. M et al.American journal of medical genetics. 1991, Vol 41, Num 3, pp 319-321, issn 0148-7299Article

Molecular Cytogenetic Characterization of an Inherited Maternal Duplication 20p11.21p13 Associated With a Small 20p11.21 DeletionD'ANGELO, Carla S; DE OLIVEIRA, Mariana A; DE CASTRO, Claudia I. E et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 12, pp 3197-3202, issn 1552-4825, 6 p.Article

A Duplication Including GATA4 Does Not Co-Segregate With Congenital Heart DefectsJOZIASSE, Irene C; VAN DER SMAGT, Jasper J; POOT, Martin et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 1062-1066, issn 1552-4825, 5 p.Article

CDC25B Involvement in the Centrosome Duplication Cycle and in Microtubule NucleationBOUTROS, Rose; LOBJOIS, Valérie; DUCOMMUN, Bernard et al.Cancer research (Baltimore). 2007, Vol 67, Num 24, pp 11557-11564, issn 0008-5472, 8 p.Article

CCL3L1 and CCL4L1 chemokine genes are located in a segmental duplication at chromosome 17q12MODI, William S.Genomics (San Diego, Calif.). 2004, Vol 83, Num 4, pp 735-738, issn 0888-7543, 4 p.Article

Familial dup(5)(q15q21) associated with normal and abnormal phenotypesLI, S.-Y; GIBSON, L. H; GOMEZ, K et al.American journal of medical genetics. 1998, Vol 75, Num 1, pp 75-77, issn 0148-7299Article

Duplications fo the X chromosome in males : evidence that most parts of the X chromosome can be active in two copiesSCHMIDT, M; DU SART, D; KALITSIS, P et al.Human genetics. 1991, Vol 86, Num 5, pp 519-521, issn 0340-6717Article

Duplication (6q) syndrome diagnosed in uteroUHRICH, S; FITZSIMMONS, J; EASTERLING, T. R et al.American journal of medical genetics. 1991, Vol 41, Num 3, pp 282-283, issn 0148-7299Article

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesROSENFELD, Jill A; TRAYLOR, Ryan N; BRADLEY SCHAEFER, G et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 754-761, issn 1018-4813, 8 p.Article

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysisWILLIAMS, Nigel M; ZAHARIEVA, Irina; GUSTAFSSON, Omar et al.Lancet (British edition). 2010, Vol 376, Num 9750, pp 1401-1408, issn 0140-6736, 8 p.Article

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeYAN, J; ZHANG, F; KEPPLER-NOREUIL, K. M et al.Journal of medical genetics. 2009, Vol 46, Num 9, pp 626-634, issn 0022-2593, 9 p.Article

Pericentric inversion causing duplication and deletion of chromosome region 13q22→ qter in the offspringPATIL, Siddramappa J; PHADKE, Shubha R.American journal of medical genetics. Part A. 2007, Vol 143, Num 1, pp 82-84, issn 1552-4825, 3 p.Article

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and wilms' tumorigenesisALGAR, Elizabeth M; HEAPS, Luke St; DARMANIAN, Artur et al.Cancer research (Baltimore). 2007, Vol 67, Num 5, pp 2360-2365, issn 0008-5472, 6 p.Article

An Alu transposition model for the origin and expansion of human segmental duplicationsBAILEY, Jeffrey A; GE LIU; EICHLER, Evan E et al.American journal of human genetics. 2003, Vol 73, Num 4, pp 823-834, issn 0002-9297, 12 p.Article

  • Page / 47