Search Results - "Gazdagh G"

Adiposity rebound and height velocity in patients with congenital adrenal hyperplasia.

Authors: Lawrence NR Bacila I Tonge J et al.

Source: European journal of endocrinology [Eur J Endocrinol] 2026 Apr 06; Vol. 194 (4), pp. 467-481.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Authors: Jackson A Blakes AJM Alhaddad B et al.

Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 798-809. Date of Electronic Publication: 2026 Mar 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Blood pressure and its associations in 554 children and young people with congenital adrenal hyperplasia.

Authors: Lawrence NR Bacila I Tonge J et al.

Source: European journal of endocrinology [Eur J Endocrinol] 2025 Apr 30; Vol. 192 (5), pp. 529-539.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Biological pathways leading to septo-optic dysplasia: a review.

Authors: Pasca, Ludovica Politano, Davide Morelli, Federica et al.

Source: Orphanet Journal of Rare Diseases. 4/3/2025, Vol. 20, p1-13. 13p.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Authors: Russo, Silvia Milani, Donatella Meossi, Camilla et al.

Source: Italian Journal of Pediatrics. 10/22/2025, Vol. 51 Issue 1, p1-19. 19p.

Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.

Authors: Cecere, Francesco Pignata, Laura D'Angelo, Emilia et al.

Source: Clinical Epigenetics. 10/3/2025, Vol. 17 Issue 1, p1-14. 14p.

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

Authors: Watts LM Bunyan DJ Giacopuzzi E et al.

Source: Brain communications [Brain Commun] 2024 Sep 25; Vol. 6 (5), pp. fcae330. Date of Electronic Publication: 2024 Sep 25 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.

Authors: Tompa, Marton Sinko, Gabriella Mally, Judit et al.

Source: International Journal of Molecular Sciences. Oct2025, Vol. 26 Issue 20, p10176. 17p.

Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans.

Authors: Cecere, Francesco Relator, Raissa Levy, Michael et al.

Source: Epigenetics & Chromatin. 7/24/2025, Vol. 18 Issue 1, p1-17. 17p.

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

Authors: Brioude, Frédéric Haagmans, Martin A. Mannens, Marcel et al.

Source: Clinical Epigenetics. 7/7/2025, Vol. 17 Issue 1, p1-9. 9p.

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, Tatsuki Kanamaru, Yuri Amano, Naoko et al.

Source: Clinical Epigenetics. 6/9/2025, Vol. 17 Issue 1, p1-13. 13p.

Characterization of Spectrin Family Genes and Their Evolutionary Roles in Domestication and Breeding of the Silkworm Bombyx mori.

Authors: Lu, Kunpeng Zhan, Chengyu Shen, Jianghong et al.

Source: Insects (2075-4450). Jun2025, Vol. 16 Issue 6, p556. 17p.

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

Authors: Mackay DJG Gazdagh G Monk D et al.

Source: Clinical epigenetics [Clin Epigenetics] 2024 Aug 01; Vol. 16 (1), pp. 99. Date of Electronic Publication: 2024 Aug 01.

Publication Type: Journal Article; Review

Journal Info: Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.

Authors: Liu, Juan Hu, Jihong Zhou, Pingqiu et al.

Source: Hereditas. 3/1/2025, Vol. 162 Issue 1, p1-8. 8p.

Language and Cognitive Features in a Girl with Bosch–Boonstra–Schaaf Optic Atrophy Syndrome.

Authors: Bogavac, Ivana Jeličić, Ljiljana Marisavljević, Maša et al.

Source: Pediatric Reports. Dec2025, Vol. 17 Issue 6, p112. 19p.

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

Authors: Urakawa, Tatsuki Soejima, Hidenobu Yamoto, Kaori et al.

Source: Clinical Epigenetics. 10/5/2024, Vol. 16 Issue 1, p1-18. 18p.

Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) - part-2.

Authors: Bonomi M Balsamo A Bizzarri C et al.

Source: Journal of endocrinological investigation [J Endocrinol Invest] 2026 Feb 28. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Authors: Chaurasia A Shukla A Pande S et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 27. Date of Electronic Publication: 2026 Jun 27.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Differences of sex development.

Authors: Ahmed SF Armstrong K Cheng EY et al.

Source: Nature reviews. Disease primers [Nat Rev Dis Primers] 2025 Jul 31; Vol. 11 (1), pp. 54. Date of Electronic Publication: 2025 Jul 31.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101672103 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-676X (Electronic) Linking ISSN: 2056676X NLM ISO Abbreviation: Nat Rev Dis Primers Subsets: MEDLINE

Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.

Authors: Bertacchi, Michele Theiß, Susanne Ahmed, Ayat et al.

Source: Communications Biology. 4/9/2025, Vol. 8 Issue 1, p1-19. 19p.