Results 201 to 210 of about 294,683 (378)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Severe Hypercalcemia and Confusion in a Middle-Aged Male: The Hidden Diagnosis of Parathyroid Carcinoma. [PDF]

Case Rep Endocrinol
Fahmi H, Karaki M, Yasmin F, Akl L, Atallah P.   +4 more
europepmc   +1 more source

I-Cell Disease (Mucolipidosis II) Presenting as Neonatal Fractures: A Case for Continued Monitoring of Serum Parathyroid Hormone Levels

, 2008
Aneal Khan, Josephine Ho, Amy Pender, Xing‐Chang Wei, Murray Potter   +4 more
openalex   +2 more sources

The Case of Severe Wound Myiasis Caused by a Minor Injury Sustained by a Spectator During a Tip‐Cat‐Sport

Clinical Case Reports, Volume 14, Issue 2, February 2026.
This report presents a case of wound myiasis caused by Chrysomya bezziana which resulting from a small wound sustained by a spectator of “Tip‐Cat‐sport.” After all maggots were removed, wound debridement followed by surgical excision of the affected tissue and a skin graft was performed. After two months, the wound completely healed.
Jahan Esha Ishrat, Kairi Hayashi, Chowdhury Ruman Uddin, Chowdhury Nafees Uddin, Hiroshi Churei, Kenji Fueki   +5 more
wiley   +1 more source

Primary Hyperparathyroidism From Concurrent Parathyroid Hyperplasia and Ectopic Parathyroid Adenoma: A Case Report. [PDF]

Case Rep Endocrinol
Yao J, Szeto C, Riba C, Nguyen C.
europepmc   +1 more source

Insulinoma in a Young Patient With Focal Seizures: A Case Report of a Neurological Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Insulinomas can mimic refractory epilepsy, leading to diagnostic delays. Hypoglycemia should be ruled out in patients with fasting‐associated focal seizures. Timely diagnosis via Whipple's triad and surgical resection offers a complete cure and reversal of neuropsychiatric symptoms.
María Valerio López, Christopher Kaleb Romero Ríos, Mohammed Zahran, Allan Mariano Bodan Campbell, Amilcar Alfaro, Jorge Chamorro Flores   +5 more
wiley   +1 more source

Senescent Cells Involved in Deterioration of Bone Microstructure by High-Frequency Parathyroid Hormone 1-34 Administration and Bone Loss. [PDF]

Aging Cell
Senescent osteoblasts induced by PTH contribute to cortical bone loss in aged mice. Senolytic co‐treatment reduces senescence and prevents bone loss after PTH withdrawal, enhancing the durability of osteoporosis therapy. ABSTRACT Osteoporosis is characterized by reduced bone mass and structural deterioration, leading to increased fracture risk ...
Bun M, Ukon Y, Ikuta M, Kitahara T, Furuichi T, Hirai H, Tateiwa D, Kanie Y, Furuya M, Fujimori T, Otsuru S, Okada S, Kaito T.   +12 more
europepmc   +2 more sources

The Larkin Report for 1963: Isotopic Localization of the Parathyroid Gland [PDF]

, 1964
Potchen, E. James
core   +1 more source

Endocrinology and the arts at the feet of the dancing Lord: Parathyroid hormone resistance in an Indian icon

, 2014
KrishnaG Seshadri
openalex   +1 more source

Assessing Parathyroid Gland Viability and Predicting Postoperative Hypoparathyroidism in Thyroid Surgery: The Utility of Indocyanine Green Angiography

, 2023
Erman Sobutay
openalex   +1 more source