Results 151 to 160 of about 2,252,434 (232)

Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies [PDF]

, 2007
F Palos, María E.R. García-Rendueles, David Araújo‐Vilar, Marı́a Jesús Obregón, Rosa Marı́a Calvo, José Cameselle‐Teijeiro, Susana B. Bravo, Oscar Perez-Guerra, Lourdes Loidi, Barbara Czarnocka, Paula Álvarez, Samuel Refetoff, Lourdes Domı́nguez-Gerpe, Clara V. Álvarez, Joaquín Lado‐Abeal   +14 more
openalex   +1 more source

Expression of PDS/Pds, the Pendred Syndrome Gene, in Endometrium [PDF]

, 2002
Koichi Suzuki
openalex   +1 more source

Congenital goitrous hypothyroidism, deafness and Iodide organification defect in four siblings: Pendred or pseudo-pendred syndrome?

, 2010
Cengiz Kara
openalex   +1 more source

A Novel Mutation of SCL26A4 gene in Turkish Family with Pendred Syndrome

, 2015
Özgür Aldemir, Kadri Karaer, Cengiz Çevik, Haldun Doğan, Cumali Gokce   +4 more
openalex   +1 more source

Genetic Defects in Thyroid Hormone Supply. [PDF]

, 2014
FENZI, GIANFRANCO, MACCHIA, PAOLO EMIDIO, NETTORE, IMMACOLATA CRISTINA   +2 more
core  

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

, 2008
Alejandra Pera, Silvia Dossena, Simona Rodighiero, Marta Gandía, Guido Fernando Botta, G. Meyer, Felipe Moreno, Charity Nofziger, Concepción Hernández-Chico, Markus Paulmichl   +9 more
openalex   +1 more source

Goiter and hearing impairment: A case of a male patient with Pendred syndrome. [PDF]

Oncol Lett, 2014
Hu EW, Liu LB, Jiang RY, He XH.
europepmc   +1 more source

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4) [PDF]

, 2000
Daryl A. Scott
openalex   +1 more source

Additional file 3: Table S2. of Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

, 2017
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal   +6 more
openalex   +1 more source

Pendred syndrome with retrosternal goitre- a rare case report. [PDF]

Indian J Surg, 2013
Sreekar H, Uppin VM, Patil S, Mutkekar A, Tejus C.   +4 more
europepmc   +1 more source