Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly ; volume:12 ; number:1 ; day:20 ; month:5 ; year:2011 ; pages:1-8 ; date:12.2011
BMC medical genetics ; 12, Heft 1 (20.5.2011), 1-8, 12.2011
- Creator
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Liao, Hsiao-Mei
- Contributor
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Fang, Jye-Siung
Chen, Yann-Jang
Wu, Kuang-Lun
Lee, Kuei-Fang
Chen, Chia-Hsiang
SpringerLink (Online service)
- DOI
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10.1186/1471-2350-12-70
- URN
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urn:nbn:de:1111-2016071513405
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:51 AM CEST
Data provider
This object is provided by:
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Liao, Hsiao-Mei
- Fang, Jye-Siung
- Chen, Yann-Jang
- Wu, Kuang-Lun
- Lee, Kuei-Fang
- Chen, Chia-Hsiang
- SpringerLink (Online service)
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The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
Reciprocal X;1 translocation in a calf
Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
A new reciprocal translocation in a hypoprolific boar
A new reciprocal translocation in a subfertile bull
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
A new reciprocal translocation involving chromosomes 1/14 in a boar
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
Mental retardation
Technological Retardation
Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
Reciprocal X;1 translocation in a calf
Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
A new reciprocal translocation in a hypoprolific boar
A new reciprocal translocation in a subfertile bull
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
A new reciprocal translocation involving chromosomes 1/14 in a boar
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
Mental retardation
Technological Retardation
Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing