De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features (Englisch)
- Neue Suche nach: Neira, Vivian Alejandra
- Neue Suche nach: Romero-Espinoza, Pavel
- Neue Suche nach: Rojas-Martínez, Augusto
- Neue Suche nach: Ortiz-López, Rocío
- Neue Suche nach: Córdova-Fletes, Carlos
- Neue Suche nach: Plaja, Alberto
- Neue Suche nach: Barros-Núñez, Patricio
- Neue Suche nach: Neira, Vivian Alejandra
- Neue Suche nach: Romero-Espinoza, Pavel
- Neue Suche nach: Rojas-Martínez, Augusto
- Neue Suche nach: Ortiz-López, Rocío
- Neue Suche nach: Córdova-Fletes, Carlos
- Neue Suche nach: Plaja, Alberto
- Neue Suche nach: Barros-Núñez, Patricio
In:
Gene
;
524
, 2
;
381-385
;
2013
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ISSN:
- Aufsatz (Zeitschrift) / Elektronische Ressource
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Titel:De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features
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Beteiligte:Neira, Vivian Alejandra ( Autor:in ) / Romero-Espinoza, Pavel ( Autor:in ) / Rojas-Martínez, Augusto ( Autor:in ) / Ortiz-López, Rocío ( Autor:in ) / Córdova-Fletes, Carlos ( Autor:in ) / Plaja, Alberto ( Autor:in ) / Barros-Núñez, Patricio ( Autor:in )
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Erschienen in:Gene ; 524, 2 ; 381-385
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Verlag:
- Neue Suche nach: Elsevier B.V.
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Erscheinungsdatum:03.04.2013
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Format / Umfang:5 pages
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ISSN:
-
DOI:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Elektronische Ressource
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Sprache:Englisch
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Schlagwörter:a-CGH , array-comparative genomic hybridization , ACSL4 , acyl-CoA synthetase long-family member 4 , AFF2 , AF4/FMR2 family, member 2 , AGTR2 , angiotensin II receptor, type 2 , ARHGEF6 , rho guanine nucleotide exchange factor 6 , arr , array , ARX , aristaless-related homeobox, X-linked , BAC , bacterial artificial chromosome , chrX , X chromosome , CGG , Cytosine-Guanine-Guanine trinucleotide , cm , centimeter , CpG , Cytosine-Guanine dinucleotide , DCX , doublecortin , dn , de novo , DNA , deoxyribonucleic acid , FISH , fluorescence in situ hybridization , FMR1 , fragile X mental retardation 1 , FMR2 , fragile X mental retardation 2 , g , grams , G-banded , Giemsa banded , GDI1 , GDP dissociation inhibitor 1 , h , hours , hg , human genome , HUWE1 , HECT, UBA, and WWE domain-containing protein 1 , ID , intellectual disability , i , isochromosome , i.e. , id est , IL1RAPL1 , interleukin 1 receptor accessory protein-like 1 , IRAK1 , interleukin 1 receptor-associated kinase 1 , ISCN , an International System for Human Cytogenetic Nomenclature , kg , kilograms , L1CAM , L1 cell adhesion molecule , LS , Lubs syndrome , mar , marker , Mb , megabase , MECP2 , methyl CpG binding protein 2 , MIM , Mendelian Inheritance in Man , MLPA , multiplex ligation-dependent probe amplification , MRC-Holland , Microbiology Research Centre Holland , MRX , X-linked mental retardation , NCBI , National Center of Biotechnology Information , OPHN1 , oligophrenin 1 , PAK3 , protein-activated kinase 3 , PCR , polymerase chain reaction , PQBP1 , polyglutamine-binding protein 1 , RAB39B , Ras-associated protein RAB39B , RPS6KA3 , ribosomal protein S6 kinase, 90-KD, 3 , SLC6A8 , solute carrier family 6, member 8 , SNP , single-nucleotide polymorphism , sSMC , small supernumerary marker chromosomes , TSPAN7 , tetraspanin 7 , X , XLID , X-linked intellectual disability , Xq , long arm of X chromosome , XY , male chromosome complement , Y , Y chromosome , Xq28 duplication
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Datenquelle:
Inhaltsverzeichnis – Band 524, Ausgabe 2
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Editorial Board| 2013