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Quoted phrase not found in phrase index: "Chromosome 11p13 deletion syndrome, distal"
Page 1
The distal region of 11p13 and associated genetic diseases.
Mannens M, Hoovers JM, Bleeker-Wagemakers EM, Redeker E, Bliek J, Overbeeke-Melkert M, Saunders G, Williams B, van Heyningen V, Junien C, et al. Mannens M, et al. Genomics. 1991 Oct;11(2):284-93. doi: 10.1016/0888-7543(91)90134-z. Genomics. 1991. PMID: 1769647
The distal region of human chromosome band 11p13 is believed to contain a cluster of genes involved in the development of the eye, kidney, urogenital tract, and possibly the nervous system. Genetic abnormalities of this region can lead to Wilms tumor, aniridi …
The distal region of human chromosome band 11p13 is believed to contain a cluster of genes involved in the development …
WAGR syndrome--a case report.
Starcević M, Mataija M. Starcević M, et al. Acta Clin Croat. 2009 Sep;48(4):455-9. Acta Clin Croat. 2009. PMID: 20405644
Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of 11p13 chromosome. .. …
Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is …
WAGR syndrome--a case report.
Mahale A, Poornima V, Shrestha M. Mahale A, et al. Nepal Med Coll J. 2007 Jun;9(2):138-40. Nepal Med Coll J. 2007. PMID: 17899969
The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13. ...Mental retardation is presumed to be a consequence of deletion of m …
The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion o …
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.
Narahara K, Kikkawa K, Kimira S, Kimoto H, Ogata M, Kasai R, Hamawaki M, Matsuoka K. Narahara K, et al. Hum Genet. 1984;66(2-3):181-5. doi: 10.1007/BF00286597. Hum Genet. 1984. PMID: 6325323
Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad …
Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to …
The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus.
Glaser T, Lewis WH, Bruns GA, Watkins PC, Rogler CE, Shows TB, Powers VE, Willard HF, Goguen JM, Simola KO, et al. Glaser T, et al. Nature. 1986 Jun 26-Jul 2;321(6073):882-7. doi: 10.1038/321882a0. Nature. 1986. PMID: 3014343
Although most Wilms' tumours are sporadic, a genetic predisposition is associated with aniridia, genito-urinary malformations and mental retardation (the WAGR syndrome). Patients with this syndrome typically exhibit constitutional deletions involving band p13 …
Although most Wilms' tumours are sporadic, a genetic predisposition is associated with aniridia, genito-urinary malformations and mental ret …
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.
Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V. Crolla JA, et al. J Med Genet. 1997 Mar;34(3):207-12. doi: 10.1136/jmg.34.3.207. J Med Genet. 1997. PMID: 9132491 Free PMC article.
The FISH markers from distal 11p13 were cosmids FO2121, PAX6 (aniridia), D11S324, and WT1 (Wilms' tumour predisposition). Two of the patients with isolated aniridia were abnormal, one with an apparently balanced reciprocal 7;11 translocation and an 11p13 brea …
The FISH markers from distal 11p13 were cosmids FO2121, PAX6 (aniridia), D11S324, and WT1 (Wilms' tumour predisposition). Two …
Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.
Couillin P, Azoulay M, Henry I, Ravisé N, Grisard MC, Jeanpierre C, Barichard F, Metezeau P, Candelier JJ, Lewis W, et al. Couillin P, et al. Hum Genet. 1989 May;82(2):171-8. doi: 10.1007/BF00284053. Hum Genet. 1989. PMID: 2722195
The short arm of chromosome 11 carries genes involved in malformation syndromes, including the aniridia/genitourinary abnormalities/mental retardation (WAGR) syndrome and the Beckwith-Wiedemann syndrome, both of which are associated with an increased r …
The short arm of chromosome 11 carries genes involved in malformation syndromes, including the aniridia/genitourinary abnormalities/m …