Results 71 to 80 of about 11,502 (212)

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder [PDF]

, 2017
PurposeNail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome.
Sarah E. Topol, Glenn Oliveira, Torkamani, Ali, Phillips, Tierney, Topol, Sarah E, Jones, Marilyn C, Ali Torkamani, Marilyn C. Jones, Manuel Rueda, Rueda, Manuel, Tierney Phillips, Oliveira, Glenn, Emily G. Spencer, Spencer, Emily G   +13 more
core   +1 more source

Familial congenital posterior luxation of the head of radius variance of the NaiIPatella syndrome

Acta Orthopaedica et Traumatologica Turcica, 2021
Familial congenital posterior luxation of the head of radius is a rarely encountered congenital anomaly. lt may be isolated or combined with other congenital anomalies.
Sait Ada, Arslan Bora, Ferda Ozkınay, Fuat Ozerkan, Ibrahim Kaplan   +4 more
doaj  

Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia

Advanced Biomedical Research, 2014
Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol), Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia
Gholamhossein Ghaffarpour, Alireza Faghihi, Mohammadreza Ghasemi, Gelareh Ghaffarpour   +3 more
doaj   +1 more source

Renal transplantation from a donor with a nail-patella syndrome

Nephrology Dialysis Transplantation, 1997
P Errasti
exaly   +3 more sources

Muscle Changes in Critically Ill Children Following an Early Progressive Exercise in the Paediatric Intensive Care Unit: A Pre‐ and Post‐Intervention Study

Nursing in Critical Care, Volume 31, Issue 3, May 2026.
ABSTRACT Background Most critically ill children in the paediatric intensive care unit (PICU) are immobilised. Prolonged immobilisation in the PICU negatively affects children's physical health outcomes. Aim The aim of the study was to evaluate the effectiveness of an early progressive exercise (EPE) intervention to improve the PICU‐acquired muscle ...
Shaodan Qi, Yuxia Yang, Jing Hu, Weijie Shen, Hao Zhou, Jos M. Latour, Weiming Chen, Ying Gu   +7 more
wiley   +1 more source

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BMC Nephrology, 2020
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail ...
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann   +7 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Chronic Knee Pain is the Paramount Presentation in Patients with Nail-Patella Syndrome

Journal of Orthopaedic Science and Research, 2023
Background: Arthralgia in connection with patellar instability have been studied thoroughly in a number of pediatric and adult patients. Small and dysplastic patellae accompanied by hypoplasia of the lateral femoral condyle may results in recurrent ...
A. Kaissi
semanticscholar   +1 more source

MON-797 A Rare Case of Nail Patella Syndrome and Osteoporosis [PDF]

J Endocr Soc
Disclosure: K. Kinger: None. N.H. Esfandiari: None. S. Saberi: None. Introduction: Nail patella syndrome is a rare autosomal dominant disorder that is associated with changes in the nails, knees, and elbows as well as the presence of iliac horns on ...
K. Kinger, Nazanene H. Esfandiari, S. Saberi   +2 more
europepmc   +2 more sources

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source