Search Results

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders.

• Authors : Brioude F; Inserm, Centre de Recherche Saint-Antoine, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012, Paris, France. .; Haagmans MA

Subjects: Genomic Imprinting*/Genomic Imprinting*/Genomic Imprinting*/genetics ; DNA Methylation* ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/methods

• Source: Clinical epigenetics [Clin Epigenetics] 2025 Jul 07; Vol. 17 (1), pp. 119. Date of Electronic Publication: 2025 Jul 07.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.

• Authors : Begemann M; Medical Faculty, Centre for Human Genetics and Genome Medicine, RWTH University Aachen, Pauwelsstr. 30, 52074, Aachen, Germany.; Lengyel A

Subjects: Silver-Russell Syndrome*/Silver-Russell Syndrome*/Silver-Russell Syndrome*/genetics ; Uniparental Disomy*/Uniparental Disomy*/Uniparental Disomy*/genetics ; Genomic Imprinting*

• Source: Clinical epigenetics [Clin Epigenetics] 2025 Apr 30; Vol. 17 (1), pp. 70. Date of Electronic Publication: 2025 Apr 30.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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

• Authors : Baena N; Genetics Laboratory, Centre de Medicina Genòmica, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. .; Monk D

Subjects: Calcium-Binding Proteins*/Calcium-Binding Proteins*/Calcium-Binding Proteins*/genetics ; Chromosomes, Human, Pair 14*/Chromosomes, Human, Pair 14*/Chromosomes, Human, Pair 14*/genetics ; DNA Methylation*/DNA Methylation*/DNA Methylation*/genetics Temple syndrome

• Source: Clinical epigenetics [Clin Epigenetics] 2024 May 07; Vol. 16 (1), pp. 62. Date of Electronic Publication: 2024 May 07.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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

• Authors : Urakawa T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8102, Japan.

Subjects: Genomic Imprinting*/Genomic Imprinting*/Genomic Imprinting*/genetics ; DNA Methylation*/DNA Methylation*/DNA Methylation*/genetics ; Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/genetics

• Source: Clinical epigenetics [Clin Epigenetics] 2024 Oct 05; Vol. 16 (1), pp. 138. Date of Electronic Publication: 2024 Oct 05.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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Effects of multisuperovulation on the transcription and genomic methylation of oocytes and offspring.

• Authors : Xie JK; Reproductive Medicine Center, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China.; Wang Q

Subjects: Oocytes*/Oocytes*/Oocytes*/metabolism ; DNA Methylation*/DNA Methylation*/DNA Methylation*/genetics ; Superovulation*/Superovulation*/Superovulation*/genetics

• Source: Clinical epigenetics [Clin Epigenetics] 2024 Sep 28; Vol. 16 (1), pp. 135. Date of Electronic Publication: 2024 Sep 28.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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Allelic expression patterns of imprinted and non-imprinted genes in cancer cell lines from multiple histologies.

• Authors : Krushkal J; Division of Cancer Treatment and Diagnosis, Biometric Research Program, National Cancer Institute, 9609 Medical Center Dr., Rockville, MD, 20850, USA. .; Jensen TL

Subjects: Genomic Imprinting*/Genomic Imprinting*/Genomic Imprinting*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/genetics; Humans

• Source: Clinical epigenetics [Clin Epigenetics] 2025 May 25; Vol. 17 (1), pp. 83. Date of Electronic Publication: 2025 May 25.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

Record details

Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.

• Authors : Urakawa T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo , 157-8535, Japan.; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8102, Japan.

Subjects: Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/genetics ; Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/diagnosis ; Chromogranins*/Chromogranins*/Chromogranins*/genetics

• Source: Clinical epigenetics [Clin Epigenetics] 2025 Jun 09; Vol. 17 (1), pp. 97. Date of Electronic Publication: 2025 Jun 09.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndrome.

• Authors : Ding Q; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.; Stander Z

Subjects: Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/genetics ; Genomic Imprinting*; Humans

• Source: Clinical epigenetics [Clin Epigenetics] 2025 Apr 29; Vol. 17 (1), pp. 67. Date of Electronic Publication: 2025 Apr 29.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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Promising therapeutic aspects in human genetic imprinting disorders.

• Authors : Chao, Yunqi¹ (AUTHOR); Qin, Yifang¹ (AUTHOR); Zou, Xinyi² (AUTHOR)

• Source: Clinical Epigenetics. 11/12/2022, Vol. 14 Issue 1, p1-19. 19p.

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

• Authors : Mackay DJG; Faculty of Medicine, University of Southampton, Southampton, UK. .; Gazdagh G

Subjects: Genomic Imprinting*/Genomic Imprinting*/Genomic Imprinting*/genetics ; DNA Methylation*/DNA Methylation*/DNA Methylation*/genetics; Humans

• Source: Clinical epigenetics [Clin Epigenetics] 2024 Aug 01; Vol. 16 (1), pp. 99. Date of Electronic Publication: 2024 Aug 01.Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083

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