Results 171 to 180 of about 17,542 (300)

Matrix metalloproteinase gelatinase B (MMP-9) is associated with leaking glaucoma filtering blebs [PDF]

, 2005
Shravan K. Chintala, Nan Wang, Shiri Diskin, Cynthia Mattox, Larry Kagemann, M. Elizabeth Fini, Joel S. Schuman   +6 more
openalex   +1 more source

Phenotypic Spectrum of GNA11 R183C Mosaicism

Pediatric Dermatology, EarlyView.
ABSTRACT Background Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G‐protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Donglin Zhang, Luis Fernando Sánchez‐Espino, Marta Ivars, Elena Pope, Amy J. Nopper, Lisa M. Arkin, Megha M. Tollefson, Cinzia E. Lavarino, Maya Muldowney, Nagore Gené Olaciregui, Sonia Paco, Beth A. Drolet, Eulàlia Baselga   +12 more
wiley   +1 more source

Bleb revision and transscleral cyclophotocoagulation for congenital glaucoma patient with Turner syndrome and <i>DMPK</i> gene mutation: a case report. [PDF]

Int J Ophthalmol
Guo AQ, Zhang WJ, Hong Y, Zhang C.
europepmc   +1 more source

Intrableb triamcinolone acetonide injection after bleb-forming filtration surgery (trabeculectomy, phacotrabeculectomy, and trabeculectomy revision by needling): a pilot study [PDF]

, 2006
Clement C. Tham, F C H Li, Dexter Y.L. Leung, Yolanda Y.Y. Kwong, Doris W.F. Yick, C C, Dennis S.C. Lam   +6 more
openalex   +1 more source

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, EarlyView.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Unilateral idiopathic spontaneous filtering bleb repaired by donor scleral patch graft. [PDF]

Digit J Ophthalmol
Yu S, Polla D, Baghdasaryan E, Shah PP, Winokur J, Ritterband D, Cheela IM.   +6 more
europepmc   +1 more source

Reassembly of contractile actin cortex in cell blebs [PDF]

, 2006
Guillaume Charras, Chi‐Kuo Hu, Margaret Coughlin, Timothy J. Mitchison   +3 more
openalex   +1 more source

Congenital Erosive and Scarring Eruption (CEASE): A Report of Two Cases and Review of the Literature on Congenital Erosive and Vesicular Dermatosis

Pediatric Dermatology, EarlyView.
ABSTRACT Congenital erosive and vesicular dermatosis (CEVD) is a rare condition that typically presents at birth with erosions and vesicles that heal with distinctive reticulate and supple scarring. We report two cases of CEVD in term infants, both of which exhibited unique features.
Lindy Moxham, Sarah Felton, Joseph M. Lam   +2 more
wiley   +1 more source

Pinpointing the thermal history of lunar basaltic meteorites in a nutshell. [PDF]

Nat Commun
Vonlanthen P, Nabiei F, Cayron C, Aebersold AB, Robyr M, Kaczmarek MA, Müntener O, Gillet P.   +7 more
europepmc   +1 more source

Síndrome del nevus gomoso azul (blue rubber bleb nevus) diagnosticado por cápsula endoscópica [PDF]

, 2006
Jessica Matas, Matilde Asteinza, Jordi Loscos, Suárez Fernández, J. A. Ramírez-Armengol, M Díaz-Rubio   +5 more
openalex   +1 more source