A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
- 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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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype ; volume:13 ; number:1 ; day:10 ; month:8 ; year:2012 ; pages:1-9 ; date:12.2012
BMC medical genetics ; 13, Heft 1 (10.8.2012), 1-9, 12.2012
- Creator
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Hanchard, Neil A.
- Contributor
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Carvalho, Claudia MB
Bader, Patricia
Thome, Aaron
Omo-Griffith, Lisa
Del Gaudio, Daniela
Pehlivan, Davut
Fang, Ping
Schaaf, Christian P.
Ramocki, Melissa B.
Lupski, James R.
Cheung, Sau Wai
SpringerLink (Online service)
- DOI
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10.1186/1471-2350-13-71
- URN
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urn:nbn:de:1111-2016071515054
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:45 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
- Hanchard, Neil A.
- Carvalho, Claudia MB
- Bader, Patricia
- Thome, Aaron
- Omo-Griffith, Lisa
- Del Gaudio, Daniela
- Pehlivan, Davut
- Fang, Ping
- Schaaf, Christian P.
- Ramocki, Melissa B.
- Lupski, James R.
- Cheung, Sau Wai
- SpringerLink (Online service)
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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
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Identification of MECP2 target genes and of proteins related to MECP2
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
MeCP2 and Chromatin Compartmentalization
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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
Identification of MECP2 target genes and of proteins related to MECP2
Identification of MECP2 target genes and of proteins related to MECP2
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
MeCP2 and Chromatin Compartmentalization
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
MECP2 duplication syndrome in a Chinese family
Assessing the burden on caregivers of MECP2 duplication syndrome
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
Genetic analysis of a pedigree with MECP2 duplication syndrome in China
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
Identification of MECP2 target genes and of proteins related to MECP2
Identification of MECP2 target genes and of proteins related to MECP2
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression