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1 . Academic Journal
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
저자
by
Kawai, Tomoko
;
Kinoshita, Shiori
;
Takayama, Yuka
;
Ohnishi, Eriko
;
Kamura, Hiromi
, et al.
소스
In
Genetics in Medicine Open
2024 2
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7 . Academic Journal
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR
저자
by
Urakawa, Tatsuki
;
Ozawa, Junichi
;
Tanaka, Masato
;
Narusawa, Hiromune
;
Matsuoka, Kentaro
, et al.
소스
In
European Journal of Medical Genetics
January 2023 66(1)
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7 . Academic Journal
Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation
저자
by
Higashiyama, Hiroyuki
;
Ohsone, Yoshiteru
;
Takatani, Rieko
;
Futatani, Takeshi
;
Kosaki, Rika
, et al.
소스
In
European Journal of Medical Genetics
October 2022 65(10)
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7 . Academic Journal
A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR
저자
by
Narusawa, Hiromune
;
Sasaki, Sunao
;
Hara-Isono, Kaori
;
Matsubara, Keiko
;
Fukami, Maki
, et al.
소스
In
European Journal of Medical Genetics
June 2022 65(6)
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7 . Academic Journal
A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B
저자
by
Campbell, Devon
;
Reyes, Monica
;
Kaygusuz, Sare Betul
;
Abali, Saygın
;
Guran, Tulay
, et al.
소스
In
Bone
April 2022 157
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7 . Academic Journal
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
저자
by
Mackay, Deborah J. G.
;
Gazdagh, Gabriella
;
Monk, David
;
Brioude, Frederic
;
Giabicani, Eloise
, et al.
소스
Clinical Epigenetics
. 8/1/2024, Vol. 16 Issue 1, p1-19. 19p.
Open Access (BioMed Central)
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7 . Academic Journal
P389: Kagami-Ogata syndrome: The indispensable role of clinical assessment and utilization of advanced molecular technologies
저자
by
Jensen, Nathaniel
;
Saunders, Scott
;
Ogata, Tsutomu
;
Longman, Ryan
;
Kagami, Masayo
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review.
저자
by
Yamoto, Kaori
;
Saitsu, Hirotomo
;
Ohkubo, Yumiko
;
Kagami, Masayo
;
Ogata, Tsutomu
.
소스
Clinical Epigenetics
. 6/5/2024, Vol. 16 Issue 1, p1-8. 8p.
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7 . Academic Journal
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
저자
by
Hattori, Atsushi
;
Seki, Atsuhito
;
Inaba, Naoto
;
Nakabayashi, Kazuhiko
;
Takeda, Kazue
, et al.
소스
Scientific Reports
. 14(1)
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7 . Academic Journal
Quantitative assessment of coat‐hanger ribs detected on three‐dimensional ultrasound for prenatal diagnosis of Kagami‐Ogata syndrome.
저자
by
Kuriki, Akane
;
Hosoya, Satoshi
;
Ozawa, Katsusuke
;
Wada, Seiji
;
Kosugi, Yohei
, et al.
소스
Journal of Obstetrics & Gynaecology Research
. Dec2022, Vol. 48 Issue 12, p3314-3318. 5p.
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