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The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS. Juriaans AF, et al. Horm Res Paediatr. 2023;96(5):483-494. doi: 10.1159/000530420. Epub 2023 Mar 28. Horm Res Paediatr. 2023. PMID: 36977395
INTRODUCTION: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14, paternal deletion of 14q32.2, or an isolated methylation defect. ...
INTRODUCTION: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of c …
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
Stalman SE, Kamp GA, Hendriks YM, Hennekam RC, Rotteveel J. Stalman SE, et al. Clin Endocrinol (Oxf). 2015 Nov;83(5):671-6. doi: 10.1111/cen.12841. Epub 2015 Jul 28. Clin Endocrinol (Oxf). 2015. PMID: 26119964
OBJECTIVE: Maternal uniparental disomy of chromosome 14 (matUPD(14)) resembles Prader-Willi syndrome (PWS). ...
OBJECTIVE: Maternal uniparental disomy of chromosome 14 (matUPD(14)) resembles Prader-Willi syndro …
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Brightman DS, Lokulo-Sodipe O, Searle BA, Mackay DJG, Davies JH, Temple IK, Dauber A. Brightman DS, et al. Horm Res Paediatr. 2018;90(6):407-413. doi: 10.1159/000496700. Epub 2019 Mar 5. Horm Res Paediatr. 2018. PMID: 30836360 Clinical Trial.
BACKGROUND/AIMS: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3 …
BACKGROUND/AIMS: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosom …
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920
RESULTS: Seventeen (60.7%) patients showed loss of methylation of the MEG3/DLK1 intergenic differentially methylated region by epimutation. Eight (28.6%) patients had maternal uniparental disomy of chromosome 14 and three (10.7%) had a pa …
RESULTS: Seventeen (60.7%) patients showed loss of methylation of the MEG3/DLK1 intergenic differentially methylated region by epimutation. …
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC. Canton APM, et al. Hum Reprod. 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. Hum Reprod. 2021. PMID: 33313884
In detail, three patients presented hypomethylation of DLK1/MEG3:IG-DMR (14q32.2 disruption or Temple syndrome), resulting from epimutation (n = 1) or maternal uniparental disomy of chromosome 14 (n = 2). Seven patients presented pathogen …
In detail, three patients presented hypomethylation of DLK1/MEG3:IG-DMR (14q32.2 disruption or Temple syndrome), resulting from epimutation …
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.
Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK. Ioannides Y, et al. J Med Genet. 2014 Aug;51(8):495-501. doi: 10.1136/jmedgenet-2014-102396. Epub 2014 Jun 2. J Med Genet. 2014. PMID: 24891339
Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low bi …
Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, …