Results 191 to 200 of about 12,876 (273)

Clinical Variability of ADPKD in Monozygotic Twins. [PDF]

Kidney Int Rep
Mohib O, Van Cauwelaert S, Pölsler L, Van Der Niepen P, Brussaard C, Van Vlem B, Schauer R, Harris PC, Janssens P.   +8 more
europepmc   +1 more source

Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome [PDF]

Kévin Perge, Émilie Capel, Valérie Senée, Cécile Julier, Corinne Vigouroux, Marc Nicolino   +5 more
openalex   +1 more source

Renal Transplant in a Bardet-Biedl Syndrome Patient: A First Case From Azerbaijan. [PDF]

Case Rep Med
Sholan R, Aliyev R, Bakhshaliyeva N, Almazkhanli A, Ismayilov R, Sultan M.   +5 more
europepmc   +1 more source

LRRC56 deficiency cause motile ciliopathies in humans and mice. [PDF]

Front Genet
Xie XH, Gu H, Yang JL, Yuan ZZ, Qin KL, Tan ZP.   +5 more
europepmc   +1 more source

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant. [PDF]

NPJ Genom Med
Jean MM, Yunis A, Elbaz-Biton T, Dolgin V, Narkis G, Michaelovsky A, Eskin-Schwartz M, Tsitrina AA, Agam N, Poleg T, Safran A, Freund O, Hadar N, Levy D, Shelef I, El Amour K, Flusser H, Birk OS.   +17 more
europepmc   +1 more source

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

, 2009
Monique Jacoby, James J. Cox, Stéphanie Gayral, Daniel J. Hampshire, Muhammad Ayub, Marianne Blockmans, Eileen Pernot, Marina V. Kisseleva, Philippe Compère, Serge N. Schiffmann, Fanni Gergely, John Riley, David Pérez‐Morga, C. Geoffrey Woods, Stéphane Schurmans   +14 more
openalex   +2 more sources

<i>TTC21B</i> variants disrupt the left-right asymmetry and pronephric development in zebrafish. [PDF]

Genes Dis
Deng L, Yang Y, Yin X, Yang J, Duan Y, Wang K, Duan W, Zhang Y, Xiong B, Zhou J.   +9 more
europepmc   +1 more source

Characterization of new genes involved in renal ciliopathies

, 2015
Marion Failler
openalex   +1 more source

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation. [PDF]

Cureus
Babiker AI, Alkabbani H, AlMaraghi S, Al Sulaiti N, Abbas O, Al Serhan AAA, Al-Kadasi W, Yousef M, Mohamed K.   +8 more
europepmc   +1 more source

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

, 2012
Rivka A. Rachel, Helen May‐Simera, Shobi Veleri, Norimoto Gotoh, Byung Yoon Choi, Carlos Murga‐Zamalloa, Jeremy C. McIntyre, Jonah Marek, Irma López, Alice N. Hackett, Matthew Brooks, Anneke I. den Hollander, Philip L. Beales, Tiansen Li, Samuel G. Jacobson, Raman Sood, Jeffrey R. Martens, Paul Liu, Thomas B. Friedman, Hemant Khanna, Robert K. Koenekoop, Matthew W. Kelley, Anand Swaroop   +22 more
openalex   +2 more sources