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Select item 96564861.

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

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Select item 83250172.

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

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Select item 81577283.

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

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Select item 75832134.

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

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Select item 64808245.

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

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Select item 64072306.

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

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Select item 63327777.

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

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Select item 62242188.

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

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Select item 61176599.

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

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Select item 572934710.

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

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Select item 556715711.

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

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Select item 544844412.

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

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Select item 539259613.

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

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Select item 302773114.

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

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Select item 259795815.

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

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Select item 176297816.

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

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Select item 979867617.

Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells

A. Pham, C. Selenou, E. Giabicani, V. Fontaine, S. Marteau, F. Brioude, L. David, D. Mitanchez, M. L. Sobrier, I. Netchine

Clin Epigenetics. 2022; 14: 190. Published online 2022 Dec 28. doi: 10.1186/s13148-022-01410-8

PMCID:: PMC9798676

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Select item 931076918.

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes

Sarah E. Grosvenor, Justin H. Davies, Margaret Lever, Julie Sillibourne, Deborah J. G. Mackay, I. Karen Temple

Am J Med Genet A. 2022 Jun; 188(6): 1896–1903. Published online 2022 Mar 9. doi: 10.1002/ajmg.a.62717

PMCID:: PMC9310769

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Select item 930956019.

Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity

Ozair Abawi, Emma C. Koster, Mila S. Welling, Sanne C.M. Boeters, Elisabeth F. C. van Rossum, Mieke M. van Haelst, Bibian van der Voorn, Cornelis J. de Groot, Erica L. T. van den Akker

Front Endocrinol (Lausanne) 2022; 13: 862817. Published online 2022 Jul 11. doi: 10.3389/fendo.2022.862817

PMCID:: PMC9309560

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Select item 858552820.

DLK1, Notch Signaling and the Timing of Puberty

Delanie B. Macedo, Ursula B. Kaiser

Semin Reprod Med. Author manuscript; available in PMC 2021 Nov 11.

Published in final edited form as: Semin Reprod Med. 2019 Jul; 37(4): 174–181. Published online 2020 Jan 23. doi: 10.1055/s-0039-3400963

PMCID:: PMC8585528

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