kw.\*:("Cromosoma X anormal")
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Overall DNA methylation and chromatin structure of normal and abnormal X chromosomesBERNARDINO-SGHERRI, J; FLAGIELLO, D; DUTRILLAUX, B et al.Cytogenetic and genome research. 2003, Vol 99, Num 1-4, pp 85-91, issn 1424-8581, 7 p.Article
Skewed X inactivation in X-linked disordersVAN DEN VEYVER, Ignatia B.Seminars in reproductive medicine. 2001, Vol 19, Num 2, pp 183-191Article
Molecular definition of breakpoints associated with human Xq isochromosomes : Implications for mechanisms of formationWOLFF, D. J; MILLER, A. P; VAN DYKE, D. L et al.American journal of human genetics. 1996, Vol 58, Num 1, pp 154-160, issn 0002-9297Article
Beobachtungen bei einem 3 Jahre alten Mädchen mit einem zusätzlichen Isochromosom des langen Arms eines X-chromosoms (47, XX, + i(Xq)) = Findings in a 3-year-old girl with an additional isochrome of the long arm of an X chromosome (47,XX,+i(Xq))PFEIFFER, R. A; WUÊNDISCH, G.Klinische Pädiatrie. 1990, Vol 203, Num 1, pp 47-50, issn 0300-8630, 4 p.Article
Non-mosaic isodicxentric X-chromosome in a patient with secondary amenorrheaPONZIO, G; CHIODO, F; MESSINA, M et al.Clinical genetics. 1987, Vol 32, Num 1, pp 20-23, issn 0009-9163Article
Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter→Xq13JALAL, S. M; DAHL, R; ERICKSON, L et al.Journal of medical genetics. 1996, Vol 33, Num 3, pp 237-239, issn 0022-2593Article
Isochromosome Xq in Klinefelter syndromeFRYNS, J.-P; KLECZKOWSKA, A; STEENO, O et al.American journal of medical genetics. 1990, Vol 36, Num 3, issn 0148-7299, p.365Article
Prenatal detection of an inverted X chromosome in a male fetusLEITE, Rosario Pinto; PINTO, Maximina.Prenatal diagnosis. 2001, Vol 21, Num 3, issn 0197-3851, p. 233Article
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal developmentFREEDENBERG, D. L; GANE, L. W; HAGERMAN, R. J et al.American journal of medical genetics. 1999, Vol 85, Num 3, pp 197-201, issn 0148-7299Article
De novo duplication Xq23→Xq26 of paternal origin in a girl with a mildly affected phenotypeGARCIA-HERAS, J; MARTIN, J. A; DAY, D. W et al.American journal of medical genetics. 1997, Vol 70, Num 4, pp 404-408, issn 0148-7299Article
Hämophilie bei Mädchen = Hemophilia in femalesWOLLINA, K.Monatsschrift für Kinderheilkunde. 1996, Vol 144, Num 8, pp 830-833, issn 0026-9298Article
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cellsSTEPHAN, V; WAHN, V; LE DEIST, F et al.The New England journal of medicine. 1996, Vol 335, Num 21, pp 1563-1567, issn 0028-4793Article
Age-associated micronuclei containing centromeres and the X chromosome in lymphocytes of womenCATALAN, J; AUTIO, K; WESSMAN, M et al.Cytogenetics and cell genetics. 1995, Vol 68, Num 1-2, pp 11-16, issn 0301-0171Article
Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25)HERNANDEZ-MARTI, M. J; ORELLANA-ALONSO, C; BADIA-GARRABOU, L et al.Cancer genetics and cytogenetics. 1995, Vol 83, Num 1, pp 82-83, issn 0165-4608Article
Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemiaRACK, K. A; CHELLY, J; MONACO, A. P et al.Human molecular genetics (Print). 1994, Vol 3, Num 7, pp 1053-1059, issn 0964-6906Article
Assessment of Yqh translocationsFERNANDEZ, J. L; PEREIRA, S; CAMPOS, A et al.Journal of medical genetics. 1994, Vol 31, Num 12, pp 978-979, issn 0022-2593Article
Fragile X phenotype in a patient with a large de novo delection in Xq27-q28ALBRIGHT, S. G; LACHIEWICZ, A. M; TARLETON, J. C et al.American journal of medical genetics. 1994, Vol 51, Num 4, pp 294-297, issn 0148-7299Article
Isochromosome Xq mosaicism with a cell line with two normal X-chromosomes : association with psychomotor retardation and neurological deficitFRYNS, J. P; KLECZKOWSKA, A; VAN DEN BERGHE, H et al.Annales de génétique (Paris). 1993, Vol 36, Num 3, pp 173-175, issn 0003-3995Article
Deletions and translocations involving the distal short arm of the human X chromosome: review and hypothesesBALLABIO, A; ANDRIA, G.Human molecular genetics (Print). 1992, Vol 1, Num 4, pp 221-227, issn 0964-6906Article
Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis : meiotic studies in a man with a deletion of distal XpMOHANDAS, T. K; SPEED, R. M; PASSAGE, M. B et al.American journal of human genetics. 1992, Vol 51, Num 3, pp 526-533, issn 0002-9297Article
Empreinte génomiqueBOUE, A.Actualités gynécologiques (Paris. 1971). 1992, Vol 23, pp 33-37, issn 0223-4661Article
High incidence of mental retardation in turner syndrome patients with ring chromosome X formationFRYNS, J. P; KLECZKOWSKA, A; VAN DEN BERGHE, H et al.Genetic counseling. 1990, Vol 1, Num 2, pp 161-165Article
Linkage studies and deletion screening in choroideremiaWRIGHT, A. F; NUSSBAUM, R. L; BHATTACHARYA, S. S et al.Journal of medical genetics. 1990, Vol 27, Num 8, pp 496-498, issn 0022-2593Article
Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative diseaseWYANDT, H. E; GRIERSON, H. L; SANGER, W. G et al.American journal of medical genetics. 1989, Vol 33, Num 3, pp 426-430, issn 0148-7299Article
Fragile X syndrome and acute lymphoblastic leukemiaCUNNINGHAM, M; DICKERMAN, J. D.Cancer. 1988, Vol 62, Num 11, pp 2383-2386, issn 0008-543XArticle