Results 91 to 100 of about 2,695 (146)

Alström Syndrome [PDF]

, 2011
Cristina Maria Mihai, Jan D. Marshall, Ramona Mihaela Stoicescu   +2 more
core   +2 more sources

Author Correction: Drosophila Alms1 proteins regulate centriolar cartwheel assembly by enabling Plk4-Ana2 amplification loop. [PDF]

EMBO J
Brunet M, Thomas J, Lapart JA, Krüttli L, Laporte MH, Riparbelli MG, Callaini G, Durand B, Morel V.   +8 more
europepmc   +1 more source

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus [PDF]

Diabetologia, 2003
L M, 't Hart, J A, Maassen, J M, Dekker, R J, Heine, J A, Maassen   +4 more
openaire   +3 more sources

Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis. [PDF]

Case Rep Ophthalmol Med, 2023
Alexopoulos P, Symeonidis C, Rotsos T.
europepmc   +1 more source

Infantile Dilated Cardiomyopathy in Alström Syndrome. [PDF]

Cureus
Van Huffel J, Derycke E, Detaille T, Moniotte S, Hubrechts J.   +4 more
europepmc   +1 more source

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report. [PDF]

BMC Pediatr
Hu M, Chen S, Wu J, Wang R.
europepmc   +1 more source

Update on NKCC2 regulation in the thick ascending limb (TAL) by membrane trafficking, phosphorylation, and protein-protein interactions. [PDF]

Front Physiol
Maskey D, Granados Pineda J, Ortiz PA.
europepmc   +1 more source

Alström syndrome-wide clinical variability within the same variant: a case report and literature review. [PDF]

Front Pediatr
Jecan-Toader D, Trifa A, Lucian B, Pop TL, Cainap SS.   +4 more
europepmc   +1 more source

Expanding the Mutation Spectrum for Inherited Retinal Diseases. [PDF]

Genes (Basel)
Lynn J, Huang SJ, Trigler GK, Kingsley R, Coussa RG, Bennett LD.   +5 more
europepmc   +1 more source

Infant Alstrom syndrome diagnosed by a new gene mutation: a case report. [PDF]

J Int Med Res, 2023
Ye Y, Wang X, Li G, Xiao X, Ji X.
europepmc   +1 more source