PMC Articles for MedGen (Select 1843450) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 43

<< First< Prev

Page of 3

Select item 114529941.

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance

Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, Tetsuo Hattori, Yukako Muramatsu, Takanobu Inoue, Keiko Matsubara, Maki Fukami, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami

Clin Epigenetics. 2024; 16: 138. Published online 2024 Oct 5. doi: 10.1186/s13148-024-01744-5

PMCID:: PMC11452994

Abstract Article PDF–3.0M

Select item 113603172.

Prenatal diagnosis of recurrent Kagami–Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review

Xueting Yang, Mengmeng Li, Qingwei Qi, Xiya Zhou, Na Hao, Yan Lü, Yulin Jiang

BMC Med Genomics. 2024; 17: 222. Published online 2024 Aug 29. doi: 10.1186/s12920-024-01987-4

PMCID:: PMC11360317

Abstract Article PDF–2.4M

Select item 110777473.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart

Clin Epigenetics. 2024; 16: 62. Published online 2024 May 7. doi: 10.1186/s13148-024-01652-8

PMCID:: PMC11077747

Abstract Article PDF–1.4M

Select item 108757874.

Polyhydramnios associated with rare genetic syndromes: two case reports

C. W. C. Lim, I. E. Lustestica, W. B. Poon, W. C. Tan

J Med Case Rep. 2024; 18: 97. Published online 2024 Feb 19. doi: 10.1186/s13256-024-04435-0

PMCID:: PMC10875787

Abstract Article PDF–1.1M

Select item 107845835.

Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Gonench Kilich, Kelly Hassey, Edward M. Behrens, Marni Falk, Adeline Vanderver, Daniel J. Rader, Patrick J. Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E. Sullivan, UDN Consortium

NPJ Genom Med. 2024; 9: 5. Published online 2024 Jan 11. doi: 10.1038/s41525-023-00389-2

PMCID:: PMC10784583

Abstract Article PDF–1.3M

Select item 100873736.

Quantitative assessment of coat‐hanger ribs detected on three‐dimensional ultrasound for prenatal diagnosis of Kagami‐Ogata syndrome

Akane Kuriki, Satoshi Hosoya, Katsusuke Ozawa, Seiji Wada, Yohei Kosugi, Yuka S. Wada, Akihiko Sekizawa, Osamu Miyazaki, Masayo Kagami, Haruhiko Sago

J Obstet Gynaecol Res. 2022 Dec; 48(12): 3314–3318. Published online 2022 Sep 10. doi: 10.1111/jog.15425

PMCID:: PMC10087373

Abstract Article PDF–2.8M

Select item 94103647.

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

Junjie Hu, Ying Zhang, Yanmei Yang, Liya Wang, Yixi Sun, Minyue Dong

Front Genet. 2022; 13: 959666. Published online 2022 Aug 11. doi: 10.3389/fgene.2022.959666

PMCID:: PMC9410364

Abstract Article PDF–2.1M

Select item 93082668.

Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome

Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang, Yuanyuan Zhang, Haiming Gao, Bijun Zhang, Wanting Cui, Yanyan Zhao

Ital J Pediatr. 2022; 48: 121. Published online 2022 Jul 23. doi: 10.1186/s13052-022-01319-1

PMCID:: PMC9308266

Abstract Article PDF–5.5M

Select item 93060619.

Kagami–Ogata syndrome: a case report

Tharindi Suriapperuma, Shobhavi Randeny, Sachith Mettananda

J Med Case Rep. 2022; 16: 284. Published online 2022 Jul 22. doi: 10.1186/s13256-022-03512-6

PMCID:: PMC9306061

Abstract Article PDF–927K

Select item 856687710.

Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome

Fenxia Li, Siping Liu, Bei Jia, Ruifeng Wu, Qingxian Chang

Front Pediatr. 2021; 9: 691761. Published online 2021 Oct 21. doi: 10.3389/fped.2021.691761

PMCID:: PMC8566877

Abstract Article PDF–1.2M

Select item 832501711.

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms

Rexxi Prasasya, Kristen V Grotheer, Linda D Siracusa, Marisa S Bartolomei

Hum Mol Genet. 2020 Sep 15; 29(R1): R107–R116. Published online 2020 Jun 27. doi: 10.1093/hmg/ddaa133

PMCID:: PMC8325017

Abstract Article PDF–656K

Select item 815962312.

Kagami-Ogata Syndrome: Case Series and Review of Literature

Rishika P. Sakaria, Roya Mostafavi, Stephen Miller, Jewell C. Ward, Eniko K. Pivnick, Ajay J. Talati

AJP Rep. 2021 Apr; 11(2): e65–e75. Published online 2021 May 27. doi: 10.1055/s-0041-1727287

PMCID:: PMC8159623

Abstract Article PDF–490K

Select item 791162413.

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Sanaa Choufani, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman, Rosanna Weksberg

Genes (Basel) 2021 Feb; 12(2): 172. Published online 2021 Jan 27. doi: 10.3390/genes12020172

PMCID:: PMC7911624

Abstract Article PDF–2.7M

Select item 766720014.

Anesthetic management of a 12-year-old child with Kagami-Ogata syndrome for pectus excavatum: a case report

Hisako Nishimoto, Masahiro Yagihara, Aki Uemura, Yoshiki Nakajima

JA Clin Rep. 2020 Dec; 6: 91. Published online 2020 Nov 15. doi: 10.1186/s40981-020-00397-6

PMCID:: PMC7667200

Abstract Article PDF–433K

Select item 749051615.

Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes

Moe Kitazawa, Shinichiro Hayashi, Michihiro Imamura, Shin'ichi Takeda, Yumiko Oishi, Tomoko Kaneko-Ishino, Fumitoshi Ishino

Development. 2020 Nov 1; 147(21): dev185918. Published online 2020 Sep 3. doi: 10.1242/dev.185918

PMCID:: PMC7490516

Abstract Article

Select item 738391916.

Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory

Yi‐Hui Lin, Yiin‐Jeng Jong, Pin‐Chia Huang, Chris Tsai

Acta Obstet Gynecol Scand. 2020 Jun; 99(6): 775–782. Published online 2020 May 17. doi: 10.1111/aogs.13886

PMCID:: PMC7383919

Abstract Article PDF–971K

Select item 707615117.

A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation

Xiaoxue Wang, Hui Pang, Birju A. Shah, Hongcang Gu, Lijun Zhang, Hua Wang

Front Pediatr. 2020; 8: 88. Published online 2020 Mar 10. doi: 10.3389/fped.2020.00088

PMCID:: PMC7076151

Abstract Article PDF–506K

Select item 696718818.

Anesthetic management of a child with Kagami-Ogata syndrome complicated with marked tracheal deviation: a case report

Kazuaki Yamagata, Atsushi Kawamura, Satomi Kasai, Mai Akazawa, Michiru Takeda, Kazuya Tachibana

JA Clin Rep. 2018 Dec; 4: 62. Published online 2018 Aug 31. doi: 10.1186/s40981-018-0199-5

PMCID:: PMC6967188

Abstract Article PDF–1.7M

Select item 687354319.

Kagami–Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report

Haipeng Huang, Yukiko Mikami, Kosuke Shigematsu, Nozomi Uemura, Mamiko Shinsaka, Ayaka Iwatani, Fumihito Miyake, Kazuhiko Kabe, Yasushi Takai, Masahiro Saitoh, Kazunori Baba, Hiroyuki Seki

J Med Case Rep. 2019; 13: 340. Published online 2019 Nov 22. doi: 10.1186/s13256-019-2298-y