Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression ; volume:16 ; number:1 ; day:18 ; month:12 ; year:2024 ; pages:1-23 ; date:12.2024
Genome medicine ; 16, Heft 1 (18.12.2024), 1-23, 12.2024
- Creator
-
Pehlivan, Davut
Bengtsson, Jesse D.
Bajikar, Sameer S.
Grochowski, Christopher M.
Lun, Ming Yin
Gandhi, Mira
Jolly, Angad
Trostle, Alexander J.
Harris, Holly K.
Suter, Bernhard
Aras, Sukru
Ramocki, Melissa B.
Du, Haowei
Mehaffey, Michele G.
Park, KyungHee
Wilkey, Ellen
Karakas, Cemal
Eisfeldt, Jesper J.
Pettersson, Maria
Liu, Lynn
Shinawi, Marwan S.
Kimonis, Virginia E.
Wiszniewski, Wojciech
Mckenzie, Kyle
Roser, Timo
Vianna-Morgante, Angela M.
Cornier, Alberto S.
Abdelmoity, Ahmed
Hwang, James P.
Jhangiani, Shalini N.
Muzny, Donna M.
Mitani, Tadahiro
Muramatsu, Kazuhiro
Nabatame, Shin
Glaze, Daniel G.
Fatih, Jawid M.
Gibbs, Richard A.
Liu, Zhandong
Lindstrand, Anna
Sedlazeck, Fritz J.
Lupski, James R.
Zoghbi, Huda
Carvalho, Claudia M. B.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13073-024-01411-7
- URN
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urn:nbn:de:101:1-2503010614348.276358556716
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:30 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Pehlivan, Davut
- Bengtsson, Jesse D.
- Bajikar, Sameer S.
- Grochowski, Christopher M.
- Lun, Ming Yin
- Gandhi, Mira
- Jolly, Angad
- Trostle, Alexander J.
- Harris, Holly K.
- Suter, Bernhard
- Aras, Sukru
- Ramocki, Melissa B.
- Du, Haowei
- Mehaffey, Michele G.
- Park, KyungHee
- Wilkey, Ellen
- Karakas, Cemal
- Eisfeldt, Jesper J.
- Pettersson, Maria
- Liu, Lynn
- Shinawi, Marwan S.
- Kimonis, Virginia E.
- Wiszniewski, Wojciech
- Mckenzie, Kyle
- Roser, Timo
- Vianna-Morgante, Angela M.
- Cornier, Alberto S.
- Abdelmoity, Ahmed
- Hwang, James P.
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Mitani, Tadahiro
- Muramatsu, Kazuhiro
- Nabatame, Shin
- Glaze, Daniel G.
- Fatih, Jawid M.
- Gibbs, Richard A.
- Liu, Zhandong
- Lindstrand, Anna
- Sedlazeck, Fritz J.
- Lupski, James R.
- Zoghbi, Huda
- Carvalho, Claudia M. B.
- SpringerLink (Online service)
Other Objects (12)
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
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
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
Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication
Identification of MECP2 target genes and of proteins related to MECP2
Identification of MECP2 target genes and of proteins related to MECP2
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
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
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
Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication
Identification of MECP2 target genes and of proteins related to MECP2
Identification of MECP2 target genes and of proteins related to MECP2
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
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
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
Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication
Identification of MECP2 target genes and of proteins related to MECP2