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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Blackwood D H R, Fordyce A, Walker M T, St. Clair D M, Porteous D J, Muir W J.: Schizophrenia and affective disorders-cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. AJHG 69:428-433, 2001. [PMC free article: PMC1235314] [PubMed: 11443544]
de la Chapelle A, Simola K, Karli P, Lindenbaum R H, Robson E B, Cook P J L, Buckton K E: Linkage data on chromosome 11. Cytogenet. Cell Genet. 22:472-473, 1978. [PubMed: 752524]
Devon R S, Evans K L, Maule J C, Christie S, Anderson S, Brown J, Shibasaki Y, Porteous D J, Brookes A J.: Novel transcribed sequences neighbouring a translocation breakpoint associated with Schizophrenia. AJMG (Neuropsychiat. Genet. 74:82-90, 1997. [PubMed: 9034012]
Fletcher J M, Evans K, Baillie D, Byrd P, Hanratty D, Leach S, Julier C, Gosden J R, Muir W, Porteous D J, St Clair D, van Heyningen V: Schizophrenia-associated chromosome 11q21 translocation: identification of flanking markers and development of chromosome 11q fragment hybrids as cloning and mapping resources. AJHG 52:478-490, 1993. [PMC free article: PMC1682173] [PubMed: 8383424]
Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
Klar A J S.: The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorder. Genetics 160:1745-1747, 2002. [PMC free article: PMC1462039] [PubMed: 11973326]
Klar A J S.: Response to Millar et al. Critique of chromosome 1;11 translocation causing psychosis. Genetics 163:837-838, 2003.
Klar A J S.: A genetic mechanism implicates chromosome 11 in Schizophrenia and bipolar diseases. Genetics 167:1833-1840, 2004. [PMC free article: PMC1470980] [PubMed: 15342521]
Millar J K, Pickard B S, Mackie S, James R, Christie S, Buchanan S R, Malloy M P, Chubb J E, Huston E, Baillie G S, Thomson P A, Hill E V, Brandon N J, Rain J-C, Camargo L M, Whiting P J, Houslay M D, Blackwood D H R, Muir W J, Porteous D J.: DISC1 and PDE4B are interacting genetic factors in Schizophrenia that regulate cAMP sugnaling. Science 310:1187-1191, 2005. [PubMed: 16293762]
Millar J K, Thomson P A, Wray N R, Muir W J, Blackwood D H R, porteous D J.: Response to Amar J. Klar: The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders. Genetics 163:833-835, 2003. [PMC free article: PMC1462459] [PubMed: 12645576]
Sawa A, Snyder S H.: Two genes link two distinct psychoses. Science 310:1128-1129, 2005. [PubMed: 16293746]
Sharp C W, Muir W J, Blackwood D H R, Walker M, Gosden C, St. Clair D M.: Schizophrenia and mental retardation associated in a pedigree with Retinitis pigmentosa and sensorineural deafness. AJMG (Neuropsychiat. Genet.) 54: 354-360, 1994. [PubMed: 7726208]
St Clair D, Blackwood D, Muir W, Carothers A, Walker M, Spowart G, Gosden C, Evans H J: Association within a family of a balanced autosomal translocation with major mental illness. Lancet ii:13-16, 1990. [PubMed: 1973210]Klar provides an interesting commentary, however, the debate continues!M. R. C. Registry No. K26-82-66 in this report.46,XY,t(1;11)(q42.2;q21).Mental disorders reported to be present were schizophrenia, schizoaffective disorder, recurrent major depression, and adolescent conduct and emotional disorder.Four generations (I-IV) with 34 carrier individuals were studied.,Chromosome 1 breakpoint was between D1S103 and D1S8 and on chromosome 11 the break was between MDU1 and MIC9.Aberration: Reciprocal translocationMIM#: 181510,605210Index Terms: Schizophrenia, DISC1, PDE4BPositive band - Turleau C, de Grouchy J, Frezal J, Richardet J M: Distal 1q monosomy. Two new observations and syndrome''s description. Ann. Genet. 26:161-164, 1983. [PubMed: 6606378]Case 1(No. 7155) and Case 2(No. 11380).46,XX,del(1)(pter -> q42.2:).Aberration: Terminal deletionPositive band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,t(1;18)(q42.2;q12.3).Aberration: Reciprocal translocationPositive band
- 01q422 - Chromosomal Variation in Man01q422 - Chromosomal Variation in Man
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