Search Results - "Lienhardt-Roussie, A."

Genetics of Idiopathic Hypogonadotropic Hypogonadism.

Authors: Topaloğlu, A. Kemal Kotan, Leman Damla

Source: Journal of Clinical Research in Pediatric Endocrinology. Jun2026, Vol. 18 Issue 2, p1-21. 21p.

Fine mapping genetic variants affecting birth weight in sheep: a GWAS of 3007 individuals using low-coverage whole genome sequencing.

Authors: Li, Ran Bai, Yuheng Zhao, Maqiang et al.

Source: Journal of Animal Science & Biotechnology. 8/12/2025, Vol. 16 Issue 1, p1-12. 12p.

Medication Adherence and Its Impact on Biochemical Outcomes and Quality of Life in Hypoparathyroidism and Related Endocrine–Metabolic Disorders: A Systematic Review and Meta-Analysis.

Authors: Alharbi, Mariam S.¹ (AUTHOR)

Source: Endocrines. Mar2026, Vol. 7 Issue 1, p5. 14p.

First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome.

Authors: Hamza, Nishath Al-Araimi, Musallam Al Salmani, Kamla et al.

Source: Sultan Qaboos University Medical Journal. May2023, Vol. 23 Issue 2, p264-268. 5p.

Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization.

Authors: Martinez, Stephanie E. Pandey, Amit V. Perez Jimenez, Tania E. et al.

Source: PLoS ONE. 2/1/2024, Vol. 19 Issue 2, p1-27. 27p.

Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.

Authors: Paparella, Roberto Pastore, Francesca Marchetti, Lavinia et al.

Source: Cells (2073-4409). Jan2026, Vol. 15 Issue 2, p140. 29p.

Neonatal Severe Primary Hyperparathyroidism—Presentation, Management, and Follow-up of Seven Cases.

Authors: Sadacharan, Dhalapathy Mahadevan, Shriraam Rao, Smitha S. et al.

Source: Indian Journal of Surgery. Dec2024, Vol. 86 Issue 6, p1132-1141. 10p.

Pleiotropic Gene HMGA2 Regulates Myoblast Proliferation and Affects Body Size of Sheep.

Authors: Cao, Xiukai Ling, Chen Liu, Yongqi et al.

Source: Animals (2076-2615). Sep2024, Vol. 14 Issue 18, p2721. 12p.

Integrative bioinformatics, statistical, and survival analysis reveals potential molecular biomarkers of ovarian cancer.

Authors: Kamble, Pradnya Sandhu, Hardeep Puri, Veena et al.

Source: Egyptian Journal of Medical Human Genetics. 9/11/2025, Vol. 26 Issue 1, p1-21. 21p.

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review.

Authors: Yamoto, Kaori Saitsu, Hirotomo Ohkubo, Yumiko et al.

Source: Clinical Epigenetics. 6/5/2024, Vol. 16 Issue 1, p1-8. 8p.

Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency.

Authors: Garcia, Cyril Dusaud, Marie Chiron, Paul et al.

Source: Case Reports in Endocrinology. 12/23/2021, p1-5. 5p.

The spectrum of CYP21A2 gene mutations from 16 families of congenital adrenal hyperplasia: Genotype-phenotype correlation.

Authors: Sridhar, Subbiah Govindhan, Ramajayam Soundian, Balasankar et al.

Source: Indian Journal of Endocrinology & Metabolism. Nov/Dec2021, Vol. 25 Issue 6, p532-537. 6p.

Computer-aided facial analysis as a tool to identify patients with Silver–Russell syndrome and Prader–Willi syndrome.

Authors: Ciancia, Silvia Goedegebuure, Wesley J. Grootjen, Lionne N. et al.

Source: European Journal of Pediatrics. Jun2023, Vol. 182 Issue 6, p2607-2614. 8p. 1 Color Photograph, 3 Charts.

The proportional magnitude of rickets and diagnostic utility of radiography in children with cerebral palsy attending neurology clinic at tertiary hospital in a low resource setting: a cross-sectional study.

Authors: Feksi EJ Saleh MA Mango MC et al.

Source: BMC pediatrics [BMC Pediatr] 2026 Mar 10; Vol. 26 (1). Date of Electronic Publication: 2026 Mar 10.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.

Authors: Cannarella, Rossella Gusmano, Carmelo Condorelli, Rosita A. et al.

Source: International Journal of Molecular Sciences. Apr2023, Vol. 24 Issue 8, p7428. 17p.

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.

Authors: Flot, Claire Porquet-Bordes, Valérie Bacchetta, Justine et al.

Source: Hormone Research in Paediatrics. 2020, Vol. 93 Issue 5, p304-312.

Neonatal severe primary hyperparathyroidism: A series of four cases and their long-term management in India.

Authors: Sadacharan, Dhalapathy Mahadevan, Shriraam Rao, Smitha et al.

Source: Indian Journal of Endocrinology & Metabolism. Mar/Apr2020, Vol. 24 Issue 2, p196-201. 6p.

Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.

Authors: Lattanzi, Roberta Miele, Rossella

Source: Life (2075-1729). Oct2024, Vol. 14 Issue 10, p1254. 16p.

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.

Authors: Baba, Naomi Lengyel, Anna Pinti, Eva et al.

Source: Molecular Cytogenetics (17558166). 5/13/2022, Vol. 15 Issue 1, p1-7. 7p.

Association of pleomorphic adenoma gene 1 with body weight and measurement of Bali cattle (Bos javanicus).

Authors: Cahyadi, Muhammad Sukaryo, Sukaryo Dhiaurridho, Mohammad Ilham et al.

Source: Veterinary World. Mar2022, Vol. 15 Issue 3, p782-788. 7p.