Results 181 to 190 of about 53,350 (292)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Open Reduction and Treatment with Bone Morphogenetic Protein-2 for Correction of Closed Tibial Pseudoarthrosis in a 32-Year-Old Non-smoking Male with Osteoporosis and Hypogonadism: A Case Report. [PDF]

J Orthop Case Rep
Hill S, Slack K, Perry F, Parhar K, Schmitz M.   +4 more
europepmc   +1 more source

Hypogonadism

, 2021
Maria Satchi, Rowland Rees
openaire   +1 more source

Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity

BioEssays, Volume 48, Issue 7, July 2026.
ABSTRACT In eukaryotes, DNA is not a naked repository of genetic information but is tightly wound around histone octamers to form nucleosomes. While this packaging solves the spatial problem of fitting 2 meters of DNA into a microscopic nucleus, it creates a massive accessibility problem for DNA‐templated events, including transcription, replication ...
İsa Özdemir, Sarah J. Hainer
wiley   +1 more source

Factors associated with acquired hypothalamic obesity in children with hypothalamic tumors: a comparative single-center study. [PDF]

Endocrine
Mete Kalayci F, Özalp Kizilay D, Ataseven E, Kantar M, Özkiziltan U, Bolat E, Suner Karakülah A, Gökşen D, Darcan Ş, Özen S.   +9 more
europepmc   +1 more source

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal, Tathagata Jha, Mohammad Orooj Azmi, Soumita Sarkar, Vinay Suresh   +4 more
wiley   +1 more source

Retroperitoneal Extra‐Adrenal Paraganglioma Presenting With Secondary Amenorrhea and Hypertension in an Adolescent: A Rare Case From Sub‐Saharan Africa

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Extra‐adrenal paragangliomas are rare neuroendocrine tumors that may cause hypertension and reproductive dysfunction in adolescents. We report a 16‐year‐old girl with uncontrolled hypertension and secondary amenorrhea caused by a functional Organ of Zuckerkandl paraganglioma.
Getasew Kassaw Alemu, Ibraist Yohannes Haileyesus, Hirsi Haahi Ahmed, Ahmednasir Abdi Hasan, Mubarek Abdi Mohamed   +4 more
wiley   +1 more source

Case-Control and Longitudinal Study of Sex Steroids in Male Patients with CKD Before and After Kidney Transplantation. [PDF]

Kidney Int Rep
David K, Narinx N, Meijers B, Antonio L, de Loor H, Claessens F, Vanderschueren D, Kuypers D, Naesens M, Decallonne B, Evenepoel P.   +10 more
europepmc   +1 more source

Central serous chorioretinopathy following intramuscular testosterone therapy in prolactinoma. [PDF]

Oxf Med Case Reports
Jha V, Dutta P, Grossman AB, Bashyal B.
europepmc   +1 more source

Dietary Phytochemical Index and Its Relationship With Diminished Ovarian Reserve: Evidence From a Case–Control Study

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.
A higher dietary phytochemical index was associated with lower odds of diminished ovarian reserve, highlighting the potential role of phytochemical‐rich diets in supporting ovarian function and reproductive health. ABSTRACT Introduction Diminished ovarian reserve (DOR) represents a significant contributor to female infertility and adverse reproductive ...
Mahdieh Khodarahmi, Gholamreza Askari, Mahdi Vajdi, Amin Mokari‐Yamchi, Hatav Ghasemi‐Tehrani, Maryam Kalatehjari, Abed Ghavami   +6 more
wiley   +1 more source