PMC Articles for MedGen (Select 863995) - PMC

Links from MedGen

Items: 1 to 20 of 64

<< First< Prev

Page of 4

Select item 81577281.

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

Masayo Kagami, Kaori Hara-Isono, Keiko Matsubara, Kazuhiko Nakabayashi, Satoshi Narumi, Maki Fukami, Yumiko Ohkubo, Hirotomo Saitsu, Shuji Takada, Tsutomu Ogata

Clin Epigenetics. 2021; 13: 119. Published online 2021 May 26. doi: 10.1186/s13148-021-01106-5

PMCID:: PMC8157728

Abstract Article PDF–3.5M

Select item 64072302.

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

Masayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, Kentaro Matsuoka, Akie Nakamura, Keiko Matsubara, Kazuhiko Nakabayashi, Shuji Takada, Maki Fukami, Tsutomu Ogata

Clin Epigenetics. 2019; 11: 42. Published online 2019 Mar 7. doi: 10.1186/s13148-019-0640-2

PMCID:: PMC6407230

Abstract Article PDF–1.7M

Select item 64808243.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski

Genome Med. 2019; 11: 25. Published online 2019 Apr 23. doi: 10.1186/s13073-019-0633-y

PMCID:: PMC6480824

Abstract Article PDF–2.0M

Select item 63327774.

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

Takuro Kimura, Masayo Kagami, Keiko Matsubara, Shuichi Yatsuga, Rio Mukasa, Chiho Yatsuga, Takako Matsumoto, Yasutoshi Koga

Clin Case Rep. 2019 Jan; 7(1): 15–18. Published online 2018 Nov 8. doi: 10.1002/ccr3.1895

PMCID:: PMC6332777

Abstract Article PDF–254K

Select item 62242185.

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

Jasmin Beygo, Claudia Mertel, Sabine Kaya, Gabriele Gillessen-Kaesbach, Thomas Eggermann, Bernhard Horsthemke, Karin Buiting

Epigenetics. 2018; 13(8): 822–828. Published online 2018 Sep 19. doi: 10.1080/15592294.2018.1514233

PMCID:: PMC6224218

Abstract Article PDF–992K

Select item 61176596.

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Maria Yakoreva, Tiina Kahre, Sander Pajusalu, Piret Ilisson, Olga Žilina, Vallo Tillmann, Tiia Reimand, Katrin Õunap

Mol Syndromol. 2018 Jul; 9(4): 182–189. Published online 2018 May 18. doi: 10.1159/000489446

PMCID:: PMC6117659

Abstract Article PDF–1.3M

Select item 57293477.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata

Genet Med. 2017 Dec; 19(12): 1356–1366. Published online 2017 May 31. doi: 10.1038/gim.2017.53

PMCID:: PMC5729347

Abstract Article PDF–750K

Select item 55671578.

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann-Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke, Karin Buiting

Eur J Hum Genet. 2017 Aug; 25(8): 935–945. Published online 2017 Jun 21. doi: 10.1038/ejhg.2017.91

PMCID:: PMC5567157

Abstract Article PDF–2.3M

Select item 54484449.

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

Veronica Bertini, Antonella Fogli, Rossella Bruno, Alessia Azzarà, Angela Michelucci, Teresa Mattina, Silvano Bertelloni, Angelo Valetto

Mol Syndromol. 2017 May; 8(3): 131–138. Published online 2017 Feb 16. doi: 10.1159/000456062

PMCID:: PMC5448444

Abstract Article PDF–169K

Select item 758321310.

Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome

Kaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, Kazuki Yamazawa, Kazuhito Satou, Nobuyuki Murakami, Shinji Saitoh, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Clin Epigenetics. 2020; 12: 159. Published online 2020 Oct 22. doi: 10.1186/s13148-020-00949-8

PMCID:: PMC7583213

Abstract Article PDF–1.8M

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 539259612.

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Masayo Kagami, Keiko Matsubara, Kazuhiko Nakabayashi, Akie Nakamura, Shinichiro Sano, Kohji Okamura, Kenichiro Hata, Maki Fukami, Tsutomu Ogata

Genet Med. 2017 Apr; 19(4): 476–482. Published online 2016 Sep 15. doi: 10.1038/gim.2016.123

PMCID:: PMC5392596

Abstract Article PDF–3.9M

Select item 965648613.

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Alicia F. Juriaans, Gerthe F. Kerkhof, Eva F. Mahabier, Theo C. J. Sas, Nitash Zwaveling-Soonawala, Robbert N. H. Touwslager, Joost Rotteveel, Anita C. S. Hokken-Koelega

J Clin Med. 2022 Nov; 11(21): 6289. Published online 2022 Oct 25. doi: 10.3390/jcm11216289

PMCID:: PMC9656486

Abstract Article PDF–644K

Select item 1107774714.

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 302773115.

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay

BMJ Case Rep. 2009; 2009: bcr06.2009.1997. Published online 2009 Jul 1. doi: 10.1136/bcr.06.2009.1997

PMCID:: PMC3027731

Abstract Article

Select item 259795816.

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay

J Med Genet. 2007 Oct; 44(10): 637–640. Published online 2007 Jun 29. doi: 10.1136/jmg.2007.050807

PMCID:: PMC2597958

Abstract Article PDF–432K

Select item 176297817.

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

R. Martin, D. Sabol, P. Rogan

J Med Genet. 1999 Aug; 36(8): 633–636.

PMCID:: PMC1762978

Summary PDF–138K

Select item 1136031718.

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 544333319.

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

Andrew Dauber, Marina Cunha-Silva, Delanie B. Macedo, Vinicius N. Brito, Ana Paula Abreu, Stephanie A. Roberts, Luciana R. Montenegro, Melissa Andrew, Andrew Kirby, Matthew T. Weirauch, Guillaume Labilloy, Danielle S. Bessa, Rona S. Carroll, Dakota C. Jacobs, Patrick E. Chappell, Berenice B. Mendonca, David Haig, Ursula B. Kaiser, Ana Claudia Latronico

J Clin Endocrinol Metab. 2017 May 1; 102(5): 1557–1567. Published online 2017 Jan 27. doi: 10.1210/jc.2016-3677

PMCID:: PMC5443333

Abstract Article

Select item 479512020.

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

Masayo Kagami, Seiji Mizuno, Keiko Matsubara, Kazuhiko Nakabayashi, Shinichiro Sano, Tomoko Fuke, Maki Fukami, Tsutomu Ogata

Eur J Hum Genet. 2015 Aug; 23(8): 1062–1067. Published online 2014 Nov 5. doi: 10.1038/ejhg.2014.234

PMCID:: PMC4795120

Abstract Article PDF–1.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 64

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity