Results 91 to 100 of about 1,143,125 (138)

Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome. [PDF]

J Clin Lab Anal, 2020
Zhang C, Hao S, Zhang Q, Liu F, Zhou B, Xuan F, Xing W, Chen X, Wang Y, Ma P, Cao Z, Ma X.   +11 more
europepmc   +1 more source

Mutationen im PDS-Gen als Ursache des Pendred-Syndroms

, 2003
Das Pendred-Syndrom, charakterisiert durch das Vorliegen einer Schallempfindungsschwerhörigkeit sowie einer (meist euthyreoten) Struma, gilt als die häufigste syndromale Hörstörung.
Pohlenz, J, Keilmann, A, Gross, M, Napiontek, U   +3 more
core  

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais

BMC Medical Genomics
Background People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause autosomal recessive ...
Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk   +2 more
doaj   +1 more source

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. [PDF]

Medicine (Baltimore), 2020
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K.   +14 more
europepmc   +1 more source

Hoffmann's Syndrome Secondary to Pendred Syndrome: A Rare Case. [PDF]

Cureus, 2019
Tahir F, Qadar LT, Khan M, Hussain H, Iqbal SU.   +4 more
europepmc   +1 more source

Delayed diagnosis of Pendred syndrome. [PDF]

BMJ Case Rep, 2016
Smith N, U-King-Im JM, Karalliedde J.
europepmc   +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

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. [PDF]

Orphanet J Rare Dis, 2017
Chow YP, Abdul Murad NA, Mohd Rani Z, Khoo JS, Chong PS, Wu LL, Jamal R.   +6 more
europepmc   +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