2-propanol has been researched along with Chromosome Deletion in 77 studies
2-Propanol: An isomer of 1-PROPANOL. It is a colorless liquid having disinfectant properties. It is used in the manufacture of acetone and its derivatives and as a solvent. Topically, it is used as an antiseptic.
propan-2-ol : A secondary alcohol that is propane in which one of the hydrogens attached to the central carbon is substituted by a hydroxy group.
Chromosome Deletion: Actual loss of portion of a chromosome.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right." | 2.48 | Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review. ( Aaberg, TM; Droste, PJ; Hassan, AS; Pearce, ZD, 2012) |
| " The data presented provide additional evidence for the pathogenicity of altered gene dosage of FOXC1 and suggest that a common mechanism is responsible for rearrangements of 6p25." | 1.31 | Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. ( Bhattacharya, SS; Ebenezer, ND; Ekong, R; Fraser, S; Hitchings, RA; Jordan, T; Khaw, PT; Lehmann, OJ; McGill, JI; Mungall, AJ; Ocaka, L; Povey, S; Sowden, JC; Walter, MA, 2002) |
| "The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia." | 1.27 | Del11p13/nephroblastoma without aniridia. ( Chavin-Colin, F; de Grouchy, J; Dufier, JL; Junien, C; Nihoul-Fékété, C; Turleau, C, 1984) |
| "Retinoblastoma, nephroblastoma and sympathoblastoma may be related to genome modification." | 1.27 | [Chromosome 11 and cancer]. ( Gilgenkrantz, S; Gregoire, MJ; Himont, F; Pernot, C; Pierson, M, 1983) |
| "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 (WAGR) in the 11p13 band." | 1.27 | Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. ( Hamawaki, M; Kasai, R; Kikkawa, K; Kimira, S; Kimoto, H; Matsuoka, K; Narahara, K; Ogata, M, 1984) |
| "Bilateral nephroblastoma may be associated with congenital bilateral aniridia in children." | 1.27 | [Bilateral nephroblastoma with aniridia]. ( Alison, M; Brichon, P; Leturgeon, MC; Weyl, M, 1986) |
| "The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease." | 1.27 | Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22). ( Campbell, NT; Keith, CG; Webb, GC, 1988) |
| "Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma." | 1.26 | Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. ( de Grouchy, J; Diebold, N; Dufier, JL; Nihoul-Fékété, C; Phuc, LH; Rappaport, R; Schmelck, PH; Turleau, C, 1981) |
| "The gene for red blood cell (RBC) catalase has recently been mapped to 11p13, and a gene dosage effect has been demonstrated for individuals with triplication or deletion of that region." | 1.26 | Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. ( Ferrell, RE; Riccardi, VM, 1981) |
| " His red blood cells contained normal activities of glutathione reductase (gene on 8p) and lactate dehydrogeanse A (gene on 11p12), indicating a gene dosage consistent with the chromosomal findings." | 1.26 | Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. ( Atkins, L; Francke, U; Holmes, LB; Riccardi, VM, 1979) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 62 (80.52) | 18.7374 |
| 1990's | 5 (6.49) | 18.2507 |
| 2000's | 7 (9.09) | 29.6817 |
| 2010's | 2 (2.60) | 24.3611 |
| 2020's | 1 (1.30) | 2.80 |
| Authors | Studies |
|---|---|
| Yang, JF | 1 |
| Roohipourmoallai, R | 1 |
| Straughn, PE | 1 |
| Sherwood, MB | 1 |
| Agarwal-Sinha, S | 1 |
| Zori, RT | 1 |
| Iyer, SSR | 1 |
| Shah, S | 1 |
| Koban, Y | 1 |
| Le, BHA | 1 |
| Bechtold, M | 1 |
| Zolfaghari, E | 1 |
| Kim, JW | 1 |
| Berry, JL | 1 |
| Sobreira, N | 1 |
| Walsh, MF | 1 |
| Batista, D | 1 |
| Wang, T | 1 |
| Pearce, ZD | 1 |
| Droste, PJ | 1 |
| Aaberg, TM | 1 |
| Hassan, AS | 1 |
| Morrison, DA | 1 |
| FitzPatrick, DR | 1 |
| Fleck, BW | 1 |
| Ekong, R | 2 |
| Jeremiah, S | 1 |
| Judah, D | 1 |
| Lehmann, O | 1 |
| Mirzayans, F | 1 |
| Hung, YC | 1 |
| Walter, MA | 2 |
| Bhattacharya, S | 1 |
| Gant, TW | 1 |
| Povey, S | 2 |
| Wolfe, J | 1 |
| Charrow, J | 1 |
| Koolen, DA | 1 |
| Knoers, NV | 1 |
| Nillesen, WM | 1 |
| Slabbers, GH | 1 |
| Smeets, D | 1 |
| de Leeuw, N | 1 |
| Sistermans, EA | 1 |
| de Vries, BB | 1 |
| Nakagome, Y | 1 |
| Ise, T | 1 |
| Sakurai, M | 1 |
| Nakajo, T | 1 |
| Okamoto, E | 1 |
| Takano, T | 1 |
| Nakahori, Y | 1 |
| Tsuchida, Y | 1 |
| Nagahara, N | 1 |
| Takada, Y | 1 |
| Fisher, JH | 2 |
| Miller, YE | 1 |
| Sparkes, RS | 2 |
| Bateman, JB | 2 |
| Kimmel, KA | 1 |
| Carey, TE | 1 |
| Rodell, T | 1 |
| Shoemaker, SA | 2 |
| Scoggin, CH | 2 |
| Turleau, C | 4 |
| de Grouchy, J | 5 |
| Nihoul-Fékété, C | 2 |
| Dufier, JL | 3 |
| Chavin-Colin, F | 1 |
| Junien, C | 5 |
| Tournade, MF | 1 |
| Gagnadoux, MF | 1 |
| Gorlin, RJ | 1 |
| Phuc, LH | 1 |
| Schmelck, PH | 1 |
| Rappaport, R | 1 |
| Diebold, N | 1 |
| Gilgenkrantz, S | 2 |
| Vigneron, C | 1 |
| Gregoire, MJ | 2 |
| Pernot, C | 2 |
| Raspiller, A | 1 |
| Kolata, GB | 1 |
| Miller, RW | 1 |
| Pfeiffer, RA | 1 |
| Fryns, JP | 1 |
| Beirinckx, J | 1 |
| De Sutter, E | 1 |
| Derluyn, J | 1 |
| Francois, J | 2 |
| Van den Berghe, H | 1 |
| Ferrell, RE | 3 |
| Riccardi, VM | 7 |
| Hittner, HM | 3 |
| Strong, LC | 1 |
| Fernbach, DJ | 1 |
| Lebo, R | 1 |
| Shannon, RS | 1 |
| Mann, JR | 1 |
| Harper, E | 1 |
| Harnden, DG | 1 |
| Morten, JE | 1 |
| Herbert, A | 1 |
| Yunis, JJ | 1 |
| Lewandowski, RC | 1 |
| Himont, F | 1 |
| Pierson, M | 1 |
| Narahara, K | 1 |
| Kikkawa, K | 1 |
| Kimira, S | 1 |
| Kimoto, H | 1 |
| Ogata, M | 1 |
| Kasai, R | 1 |
| Hamawaki, M | 1 |
| Matsuoka, K | 1 |
| Sparkes, MC | 1 |
| Pogosiants, EE | 1 |
| Kuznetsova, LE | 1 |
| Ferry, AP | 1 |
| Marchevsky, A | 1 |
| Strauss, L | 1 |
| Chakravarti, A | 1 |
| Abeliovich, D | 1 |
| Yagupsky, P | 1 |
| Bashan, N | 1 |
| Niikawa, N | 1 |
| Fukushima, Y | 2 |
| Taniguchi, N | 1 |
| Iizuka, S | 1 |
| Kajii, T | 1 |
| Gödde-Salz, E | 1 |
| Behnke, H | 1 |
| Phug, LH | 1 |
| Schmelck, P | 1 |
| Fekete, C | 1 |
| Haye, C | 1 |
| Kaiser-Kupfer, MI | 1 |
| White, BJ | 1 |
| Papadopoulos, N | 1 |
| Barnicoat, AJ | 1 |
| Moller, HU | 1 |
| Palmer, RW | 1 |
| Russell-Eggitt, I | 1 |
| Winter, RM | 1 |
| Werner, W | 1 |
| Kraft, S | 1 |
| Callen, DF | 1 |
| Bartsch, O | 1 |
| Hinkel, GK | 1 |
| Walsh, LM | 1 |
| Lynch, SA | 1 |
| Clarke, MP | 1 |
| Monaghan, KG | 1 |
| Van Dyke, DL | 1 |
| Wiktor, A | 1 |
| Feldman, GL | 1 |
| Wieczorek, D | 1 |
| Krause, M | 1 |
| Majewski, F | 1 |
| Albrecht, B | 1 |
| Horn, D | 1 |
| Riess, O | 1 |
| Gillessen-Kaesbach, G | 1 |
| Lehmann, OJ | 1 |
| Ebenezer, ND | 1 |
| Ocaka, L | 1 |
| Mungall, AJ | 1 |
| Fraser, S | 1 |
| McGill, JI | 1 |
| Hitchings, RA | 1 |
| Khaw, PT | 1 |
| Sowden, JC | 1 |
| Bhattacharya, SS | 1 |
| Jordan, T | 1 |
| Wilcox, LM | 1 |
| Bercovitch, L | 1 |
| Howard, RO | 1 |
| Sujansky, E | 1 |
| Smith, AC | 1 |
| Francke, U | 3 |
| Andersen, SR | 2 |
| Geertinger, P | 2 |
| Larsen, HW | 2 |
| Mikkelsen, M | 2 |
| Vestermark, S | 2 |
| Warburg, M | 2 |
| Holmes, LB | 1 |
| Atkins, L | 1 |
| Parving, A | 1 |
| Curtis, MA | 1 |
| Quarrell, OW | 1 |
| Cobon, AM | 1 |
| Cummins, M | 1 |
| Couillin, P | 3 |
| Azoulay, M | 1 |
| Metezeau, P | 1 |
| Grisard, MC | 1 |
| Gessler, M | 3 |
| Thomas, GH | 3 |
| McGillivray, BC | 1 |
| Hayden, M | 1 |
| Jaschek, G | 1 |
| Bruns, GA | 3 |
| Cowell, JK | 1 |
| Wadey, RB | 1 |
| Buckle, BB | 1 |
| Pritchard, J | 1 |
| Harnois, C | 1 |
| Boisjoly, HM | 1 |
| Jotterand, V | 1 |
| Simola, KO | 2 |
| Mayer, UM | 2 |
| Bialasiewicz, AA | 2 |
| Seawright, A | 4 |
| Fletcher, JM | 3 |
| Fantes, JA | 2 |
| Morrison, H | 1 |
| Porteous, DJ | 3 |
| Li, SS | 1 |
| Hastie, ND | 1 |
| Van Heyningen, V | 3 |
| Vadot, E | 1 |
| Noel, B | 1 |
| Vercherat, M | 1 |
| Davis, LM | 2 |
| Stallard, R | 1 |
| Nowak, NJ | 2 |
| Shows, TB | 2 |
| Byers, MG | 1 |
| Qin, SZ | 1 |
| Scoggin, C | 1 |
| van Kessel, AG | 1 |
| Nusse, R | 1 |
| Slater, R | 1 |
| Tetteroo, P | 1 |
| Hagemeijer, A | 1 |
| Barletta, C | 1 |
| Castello, MA | 1 |
| Ferrante, E | 1 |
| Mavelli, I | 1 |
| Clerico, A | 1 |
| Ciriolo, MR | 1 |
| Vignetti, P | 1 |
| Michalopoulos, EE | 1 |
| Bevilacqua, PJ | 1 |
| Stokoe, N | 1 |
| Powers, VE | 1 |
| Willard, HF | 1 |
| Lewis, WH | 1 |
| Morse, H | 1 |
| Leigh, T | 1 |
| Boyd, PA | 2 |
| Buckton, KE | 1 |
| Spowart, G | 1 |
| Hill, RE | 1 |
| Newton, MS | 1 |
| Weyl, M | 1 |
| Brichon, P | 1 |
| Leturgeon, MC | 1 |
| Alison, M | 1 |
| Boyd, P | 1 |
| Fekete, G | 1 |
| Hastie, N | 1 |
| Trigg, ME | 1 |
| Padilla-Nash, H | 1 |
| Saxe, D | 1 |
| Friedman, A | 1 |
| Uehling, D | 1 |
| France, T | 1 |
| Gilbert, E | 1 |
| Wilms, H | 1 |
| Back, E | 1 |
| Kirste, G | 1 |
| Mannens, M | 1 |
| Slater, RM | 1 |
| Heyting, C | 1 |
| Geurts van Kessel, A | 1 |
| Goedde-Salz, E | 1 |
| Frants, RR | 1 |
| Van Ommen, GJ | 1 |
| Pearson, PL | 1 |
| Howell, RT | 1 |
| Gardner, A | 1 |
| Dickinson, V | 1 |
| Bickmore, W | 1 |
| Christie, S | 1 |
| Cranston, G | 1 |
| Gosden, JR | 1 |
| Rout, D | 1 |
| Ogura, A | 1 |
| Kamei, Y | 1 |
| Fujita, Y | 1 |
| Stern, RJ | 1 |
| Hunter, WS | 1 |
| Moross, T | 1 |
| Gardner, HA | 1 |
| Webb, GC | 1 |
| Keith, CG | 1 |
| Campbell, NT | 1 |
| Meythaler, FH | 1 |
| Moore, JW | 1 |
| Hyman, S | 1 |
| Antonarakis, SE | 1 |
| Mules, EH | 1 |
5 reviews available for 2-propanol and Chromosome Deletion
| Article | Year |
|---|---|
Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review.
Topics: Abnormalities, Multiple; Anophthalmos; Chromosome Deletion; Chromosomes, Human, Pair 14; Coloboma; E | 2012 |
Recent advances in cytogenetics.
Topics: Chromosome Banding; Chromosome Deletion; Chromosome Fragility; Cytogenetics; DiGeorge Syndrome; Flow | 1983 |
High-resolution cytogenetics.
Topics: Adolescent; Chromosome Aberrations; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 13- | 1983 |
[Role of cytogenetic studies in ophthalmology and pediatric oncology].
Topics: Chromosome Deletion; Chromosomes, Human, 13-15; Chromosomes, Human, 6-12 and X; Cytogenetics; Eye Ne | 1983 |
Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion.
Topics: Abnormalities, Multiple; Autistic Disorder; Cataract; Child, Preschool; Chromosome Aberrations; Chro | 1997 |
72 other studies available for 2-propanol and Chromosome Deletion
| Article | Year |
|---|---|
Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.
Topics: Cataract; Chromosome Deletion; Eye Abnormalities; Humans; Iris; Male; Microphthalmos; Persistent Hyp | 2021 |
Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion.
Topics: Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 13; Diagnosis, Differential; DNA | 2018 |
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
Topics: Attention Deficit Disorder with Hyperactivity; Child; Chromosome Deletion; Chromosomes, Human, Pair | 2009 |
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).
Topics: Abnormalities, Multiple; Adolescent; Chromosome Deletion; Chromosomes, Human, Pair 22; Coloboma; Fem | 2002 |
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
Topics: Abnormalities, Multiple; Anodontia; Anterior Eye Segment; Cell Line; Chromosome Aberrations; Chromos | 2004 |
A 22-month-old boy with slow development.
Topics: Chromosome Deletion; Chromosomes, Human, Pair 7; Developmental Disabilities; Humans; In Situ Hybridi | 2005 |
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 6; Female; | 2005 |
High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities.
Topics: Adolescent; Child; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, 6- | 1984 |
Wilms' tumor-aniridia association: segregation of affected chromosome in somatic cell hybrids, identification of cell surface antigen associated with deleted area, and regional mapping of c-Ha-ras-1 oncogene, insulin gene, and beta-globin gene.
Topics: Animals; Antigens, Surface; Cell Line; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6- | 1984 |
Del11p13/nephroblastoma without aniridia.
Topics: Acatalasia; Catalase; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, | 1984 |
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.
Topics: Acatalasia; Adolescent; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Femal | 1984 |
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.
Topics: Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, 6-12 and X; Cryptorchidism; Disorders o | 1981 |
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.
Topics: Abnormalities, Multiple; Acatalasia; Cardiomyopathy, Hypertrophic; Cataract; Chromosome Banding; Chr | 1982 |
Genes and cancer: the story of Wilms tumor.
Topics: Age Factors; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, | 1980 |
Birth defects and cancer due to small chromosomal deletions.
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Humans; Iris; Kidney Neoplasms; Syndrome; Wilms | 1980 |
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).
Topics: Abnormalities, Multiple; Bone Neoplasms; Child; Chondroma; Chromosome Deletion; Chromosomes, Human, | 1980 |
Aniridia-Wilms' tumor association and 11p interstitial deletion.
Topics: Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Humans; Intellectual Disabili | 1981 |
Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations.
Topics: Catalase; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Erythrocytes; Female; Genes, Dominant | 1981 |
Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.
Topics: Adolescent; Chromosome Deletion; Chromosomes, Human, 13-15; Chromosomes, Human, 6-12 and X; Female; | 1982 |
Wilms's tumour and aniridia: clinical and cytogenetic features.
Topics: Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Humans; Infant; Iris; | 1982 |
The significance of genetic research in ophthalmology.
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Eye Diseases; Eye Neoplasms; Fabry Disease; Hum | 1982 |
Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, 13-15; Eye Neoplasms; Female; Huma | 1982 |
[Chromosome 11 and cancer].
Topics: Abnormalities, Multiple; Adrenal Gland Neoplasms; Chromosome Aberrations; Chromosome Deletion; Chrom | 1983 |
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.
Topics: Abnormalities, Multiple; Adolescent; Catalase; Child, Preschool; Chromosome Banding; Chromosome Dele | 1984 |
Aniridia: enzyme studies in an 11p--chromosomal deletion.
Topics: Catalase; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-1 | 1984 |
Ocular abnormalities in deletion of the long arm of chromosome 11.
Topics: Choroid; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-12 | 1981 |
Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.
Topics: Acid Phosphatase; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Hu | 1980 |
3:1 meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring.
Topics: Adult; Alleles; Chromosome Deletion; Chromosomes, Human, 13-15; Chromosomes, Human, 4-5; Coloboma; D | 1982 |
Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.
Topics: Catalase; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chrom | 1982 |
Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p.
Topics: Adult; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Humans; Inte | 1981 |
[Intercalary deletion of the short arm of chromosome 11: aniridia, glaucoma, staturoponderal and mental retardation, sexual ambiguity, gonadoblastoma and catalase deficiency].
Topics: Acatalasia; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Disorders of Sex Development; Dysge | 1981 |
Aniridia and mental retardation with deletion of the short arm of chromosome 11.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosome | 1981 |
An unusual presentation of Smith-Magenis syndrome with iris dysgenesis.
Topics: Adult; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 17; DNA Probes; Eye Abnorma | 1996 |
A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.
Topics: Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 16; Coloboma; Cr | 1997 |
Ocular abnormalities in a patient with partial deletion of chromosome 6p. A case report.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 6; Corneal Opacity; Eye Abnor | 1997 |
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Topics: Abnormalities, Multiple; Adolescent; Body Weight; Child; Child, Preschool; Chromosome Deletion; Chro | 2000 |
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
Topics: Base Sequence; Chromosome Deletion; Chromosomes, Human, Pair 6; Contig Mapping; Cornea; DNA-Binding | 2002 |
Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
Topics: Abnormalities, Multiple; Adolescent; Adult; Azure Stains; Blepharoptosis; Chromosome Deletion; Chrom | 1978 |
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.
Topics: Adolescent; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Congenital | 1978 |
[P 11 deletion syndrome. Aniridia, urogenital malformation and mental retardation].
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Diagnosis, Differential; Dysgerminoma; Genitali | 1978 |
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.
Topics: Abnormalities, Multiple; Child; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 6-12 an | 1979 |
Aniridia caused by a heritable chromosome 11 deletion.
Topics: Abnormalities, Multiple; Cataract; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Geni | 1979 |
Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.
Topics: Cataract; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Dysgerminoma; Female; Humans; Infant; | 1977 |
Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.
Topics: Abnormalities, Multiple; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 4; Colobo | 1990 |
The gene for catalase is assigned between the antigen loci MIC4 and MIC11.
Topics: Antigens; Catalase; Child; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Fem | 1989 |
A deletion map of the WAGR region on chromosome 11.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; DNA P | 1989 |
The aniridia-Wilms' tumour association: molecular and genetic analysis of chromosome deletions on the short arm of chromosome 11.
Topics: Cell Line; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; DNA; Humans; Hybrid | 1989 |
Sporadic aniridia and Wilms' tumor: visual function evaluation of three cases.
Topics: Chromosome Deletion; Chromosomes, Human, Pair 11; Contact Lenses; Electroretinography; Evoked Potent | 1989 |
Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
Topics: Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 4; Cl | 1989 |
Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn).
Topics: Anterior Chamber; Autoradiography; Cataract; Chromosome Deletion; Chromosomes, Human, Pair 4; DNA; E | 1989 |
Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids.
Topics: Animals; Cell Separation; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; DNA; | 1988 |
[The aniridia-Wilms' tumor syndrome: a familial case].
Topics: Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 11; Female; Humans; Infant; Iris; Ki | 1987 |
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.
Topics: Animals; Cell Line; Chromosome Deletion; Chromosomes, Human, Pair 11; DNA; Humans; Hybrid Cells; Iri | 1988 |
Molecular mapping and cloning of the breakpoints of a chromosome 11p14.1-p13 deletion associated with the AGR syndrome.
Topics: Cell Line; Chromosome Deletion; Chromosomes, Human, Pair 11; Cloning, Molecular; DNA; Electrophoresi | 1988 |
Four new DNA markers are assigned to the WAGR region of 11p13: isolation and regional assignment of 112 chromosome 11 anonymous DNA segments.
Topics: Catalase; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Cloning, Molecular; | 1988 |
Localization of the oncogene c-Ha-ras1 outside the aniridia-Wilms' tumor-associated deletion of chromosome 11(del 11p13) using somatic cell hybrids.
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Congenital Abnormalities; Humans; Iris; Male; O | 1985 |
11p13 deletion and reduced RBC catalase in a patient with aniridia, glaucoma and bilateral Wilms' tumor.
Topics: Catalase; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Erythrocytes; Glaucoma; Humans; Infan | 1985 |
Molecular analysis of gene deletion in aniridia--Wilms tumor association.
Topics: Animals; Catalase; Cell Line; Chromosome Banding; Chromosome Deletion; Chromosome Mapping; Chromosom | 1985 |
The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.
Topics: Abnormalities, Multiple; Animals; Antibodies, Monoclonal; Antigens, Surface; Child; Chromosome Bandi | 1985 |
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.
Topics: Antigens, Surface; Calcitonin; Catalase; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human | 1985 |
[Bilateral nephroblastoma with aniridia].
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Humans; Infant; Iris; Kidney Neoplasms; Male; O | 1986 |
Use of catalase polymorphisms in the study of sporadic aniridia.
Topics: Catalase; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, 6-12 and X; DNA; DNA Restrict | 1986 |
Aniridia and Wilms' tumor in a child constitutionally mosaic for 11p-;12q+: a new chromosomal change also present in Wilms' tumor cells of the blastema type.
Topics: Cells; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Humans; Infant; Iris; Kidney Neo | 1986 |
[Terminal renal failure in aniridia-Wilms syndrome].
Topics: Adult; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 1 | 1986 |
Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions.
Topics: Animals; Chromosome Banding; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; C | 1987 |
G and R banding of 11p deletions in aniridia--Wilms' tumour.
Topics: Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; Humans; Infant; Iris; Wilms Tu | 1987 |
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.
Topics: Animals; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; Cloning, Molecular; D | 1987 |
[A case of aniridia-Wilms' tumor syndrome].
Topics: Chromosome Deletion; Chromosomes, Human, Pair 11; Female; Humans; Infant; Iris; Kidney Neoplasms; Sy | 1987 |
Prenatal diagnosis of del(11)(p13p15).
Topics: Adult; Amniotic Fluid; Chromosome Deletion; Chromosomes, Human, Pair 11; Female; Fetal Diseases; Hum | 1988 |
Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosom | 1988 |
[Ophthalmologic findings in 11 q-deletion syndrome].
Topics: Blepharoptosis; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 11; Coloboma; Eye Di | 1987 |
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Hum | 1986 |