Results 91 to 100 of about 11,502 (212)
Indian journal of dermatology, venereology and leprology, 2017 A 14-year-old male having nail-patella syndrome, manifested as deficient nails on the ubw aspect of thumbs, V-shaped half- moons, rudimentry patella on right side and absence on left side. X-ray of pelvis showed iliac horns.. Family history was suggestive of autosomal dominant of inheritance.
V K, Jain, U S, Pahwa, Anil, Dashore
openaire +3 more sources
Hypertrophic Osteopathy Associated With Intrathoracic Masses in 5 Dogs and Review of the Literature
Veterinary Medicine International, Volume 2026, Issue 1, 2026.This study describes the clinical and radiographical findings of hypertrophic osteopathy in 5 female mature adult dogs with pulmonary and mediastinal masses. Besides, the literature review from the past to today provides information about the disease.
Mehmet Alper Cetinkaya +5 more
wiley +1 more source
Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: Triangular lunula of the thumb and lack of finger creases as clues [PDF]
, 2023 Yoshinori Banno +5 more
openalex +1 more source
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
Annals of Neurology, Volume 98, Issue 6, Page 1335-1351, December 2025.[Color figure can be viewed at www.annalsofneurology.org] Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy ...
Berta Estévez‐Arias +23 more
wiley +1 more source
THE INHERITANCE AND DEVELOPMENT OF THE NAIL-PATELLA SYNDROME
, 1963 1. A genetic and orthopaedic analysis of a family of seventy members exhibiting the nail-patella syndrome is described. 2. The disorder is found to be determined by a simple dominant autosomal gene with complete penetrance, but displaying variable ...
Frederick Hecht, Robert B. Duthie
core +1 more source
Lysine Acetyltransferase 6 in Health and Disease
MedComm, Volume 6, Issue 12, December 2025.KAT6A and its paralog KAT6B have emerged as druggable targets for the treatment of malignancies, especially for breast cancer. Recent progress in drug discovery has promoted the development of dual inhibitors targeting KAT6A and KTA6B, which shows potent antitumor efficacy and manageable toxicity.
Yujing Tan, Jiani Wang, Fei Ma
wiley +1 more source
Total Anonychia Congenita with Carpal Synostosis [PDF]
Disease and DiagnosisBackground: Anonychia congenita is a rare genetic disorder of fingernails and/or toenails with unknown prevalence leading to aplasia of nail structures which may be seen either as an isolated abnormality or as part of a syndrome affecting multiple parts ...
Milad Bahari, Negar Douzandeh
doaj +1 more source
Knee Surgery, Sports Traumatology, Arthroscopy, Volume 33, Issue 11, Page 3762-3771, November 2025.Abstract Purpose To compare clinical and functional outcomes of medial patellofemoral ligament (MPFL) reconstruction using a minimally invasive pedicled quadriceps tendon (QT) or patella double tunnel technique with semitendinosus tendon (ST) graft in patients with recurrent patella dislocation.
Tayfun Özel +5 more
wiley +1 more source
A case of ectopic cilia in nail-patella syndrome
, 2012 Both ectopic cilia and nail-patella syndrome (NPS) are rare entities. To our knowledge we report the first case of the two anomalies coexisting in one patient.
Kipioti, Athina +3 more
core +1 more source
NAIL-PATELLA SYNDROME WITH ILIAC HORNS AND HEREDITARY NEPHROPATHY
, 1967 1 . Necropsy and dissection findings of a man of fifty-two who died from nail-patella syndrome are recorded. 2. The significance of the iliac horns are discussed and the literature concerning their development is reviewed. 3.
C. F. Hawkins, D. Darlington
core +1 more source