Results 111 to 120 of about 1,289,318 (184)

From dystrophic nails to patellar hypoplasia: a closer look at nail-patella syndrome [PDF]

Mariana Sebastião, Maria Seabra Rato, Lúcia Costa   +2 more
openalex   +1 more source

Diagnosing nail-patella syndrome: can it be so simple? [PDF]

BMJ Case Rep, 2021
Sasidharan R, Gupta N, Toteja N, Yadav B.   +3 more
europepmc   +1 more source

Nail-patella syndrome and its association with glaucoma: a review of eight families

, 2006
Background: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated
David Mackey (14743045), Craig, JE (15485495), Rait, JL (15481901), Mimiwati, Z (15507911), MacKinnon, JR (15496529), Ayala-Lugo, R (15507917), Liebelt, JE (15507914), Richards, JE (15503015), Vollrath, D (15503006)   +8 more
core  

The First Observation and Diagnosis of Nail‐Patella Syndrome Using LV ‐ SEM : GBM Abnormalities Mimicking Alport Syndrome [PDF]

Hiroki Ito, Katsuya Ishiyama, Takuo Hirose, Shigemitsu Sato, Risa Ishikawa, Akari Endo, Ikuko Oba‐Yabana, Tomoyoshi Kimura, Wako Yumura, Takefumi Mori   +9 more
openalex   +1 more source

IPR ’26 Case of the Day: Nail–patella syndrome

Helena Maes
openalex   +1 more source

Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics

Himanshu Goel
openalex   +2 more sources

Nail-patella syndrome (Fong disease)

, 2023
Stefan Lazic
openalex   +1 more source

Paciente con asociación de síndrome uña-rótula y artrogriposis múltiple congénita. Evolución clínico-radiológica

Revista Médica Electrónica
RESUMEN La asociación de la artrogriposis múltiple congénita con el síndrome uña -rótula es rara, porque ambas patologías son infrecuentes. Debido a la gran variedad de manifestaciones clínico-radiológica de ambos síndromes, es necesario conocer el ...
Juan de Dios García Domínguez, Miriam Subiaurt Ortega, Lázara González Landrián   +2 more
doaj  

IT'S A NAIL BITER! NAIL PATELLA SYNDROME PRESENTING AS A STEMI WITH ANOMALOUS ANATOMY AND CORONARY ANEURYSMS

, 2023
Akarsh Parekh, Jason Kaplan, Kyle Varkoly, Anila M. Rao, Lakshmi Rao, Michael B. DeYoung   +5 more
openalex   +1 more source

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene. [PDF]

Mov Disord, 2020
Bech S, Løkkegaard A, Nielsen TT, Nørremølle A, Grønborg S, Hasholt L, Steffensen GK, Graehn G, Olesen JH, Tommerup N, Mang Y, Bak M, Nielsen JE, Eiberg H, Hjermind LE.   +14 more
europepmc   +1 more source