Results 121 to 130 of about 4,772 (187)

LMX1B Gene [PDF]

, 2020
openaire   +1 more source

LMX1B wt Allele [PDF]

, 2020
openaire   +1 more source

Orthopedic manifestations and management of nail-patella syndrome: a narrative review

Frontiers in Pediatrics
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by skeletal and renal abnormalities. Diagnosis is primarily clinical, based on four main features: nail dysplasia, patellar and elbow abnormalities, and the presence of iliac
Amandine Beaugé, Viola Sbampato, Oscar Vazquez, Giacomo De Marco, Christina Steiger, Romain Dayer, Dimitri Ceroni   +6 more
doaj   +1 more source

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome [PDF]

, 2018
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome.
Ashraf, S, Bakkaloglu, SA, Baum, M, Benador, N, Bockenhauer, D, Bogdanovic, R, Braun, DA, Buscher, R, Cadnapaphornchai, MA, Chen, J, Chernin, G, Daga, A, Daouk, G, El Desoky, S, Ettenger, R, Fathy, H, Fehrenbach, H, Ferguson, MA, Gee, HY, Hashmi, S, Hermle, T, Hildebrandt, F, Hopcian, J, Ityel, H, Jobst-Schwan, T, Kari, JA, Kemper, M, Kohl, S, Kopp, JB, Lawson, JA, Lifton, RP, Lovric, S, Majmundar, AJ, Mane, S, Mueller, D, Munarriz, RL, Nakayama, M, Noyan, A, Ozaltin, F, Pabst, WL, Podracka, L, Rao, J, Rodig, NM, Sadowski, CE, Schapiro, D, Schmidt, JM, Schneider, R, Serdaroglu, E, Shril, S, Soliman, NA, Somers, MJG, Stajic, N, Stein, DR, Tan, W, Tasic, V, Traum, AZ, van der Ven, AT, Vivante, A, Warejko, JK, Widmeier, E, Zenker, M   +60 more
core  

The effects of short-term high-fat feeding on exercise capacity: multi-tissue transcriptome changes by RNA sequencing analysis [PDF]

, 2017

core   +1 more source

Dorsoventral limb patterning in paired appendages emerged via regulatory repurposing of an ancestral posterior fin module. [PDF]

Mol Biol Evol
Zdral S, Bordignon SG, Meyer A, Ros MA, Woltering JM.   +4 more
europepmc   +1 more source

Common TGF beta 2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma [PDF]

, 2012
Fraser, S, Jamshidi, Y, Park, S, Sowden, JC, Vaideanu, D   +4 more
core  

SOX2 commands LIM homeobox transcription factors in choroid plexus development and tumorigenesis. [PDF]

Neuro Oncol
Faltings LJ, Lin F, Zahran M, Jalili H, Siluveru A, Chaudry M, Wachsmuth LM, Guru N, Schoof M, Cao P, Huang Y, Mian N, Moon S, Zahran A, Green K, Modi S, Umer M, Virga JQ, Zhao YT, Schüller U, Li Q, Zhao H.   +21 more
europepmc   +1 more source

Novel LMX1B variants in nail-patella syndrome

Hong Kong Medical Journal
L T, Leung, S K L, Ho, W C, Yiu, S S W, Cheng, I F M, Lo, H M, Luk   +5 more
openaire   +2 more sources

Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification. [PDF]

Int J Mol Sci
Wu S, Kondo K, Matsushita Y.
europepmc   +1 more source