Results 151 to 160 of about 18,361 (285)

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

Journal of Human Genetics, 2016
S. Melchionda, T. Palladino, S. Castellana, M. Giordano, E. Benetti, P. Bonis, L. Zelante, L. Bisceglia   +7 more
semanticscholar   +1 more source

Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS. [PDF]

BMC Med Genomics
Yang Y, Ren X, Xia C, Zhang Y, Song X, Tang X, Du C, Xu W, Weng W.   +8 more
europepmc   +1 more source

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification. [PDF]

Mol Genet Genomic Med
Aguayo-Orozco TA, Rivera H, Figuera LE, Esparza-García E, Perea-Díaz FJ, Jaloma-Cruz AR, Rizo-de la Torre LDC, Domínguez-Quezada MG.   +7 more
europepmc   +1 more source

The Clinical and Diagnostic Characterization of 6q24-Related Transient Neonatal Diabetes Mellitus: A Polish Pediatric Cohort Study. [PDF]

Biomedicines
Pietrusiński M, Grzybowska-Adamowicz J, Płoszaj T, Skoczylas S, Borowiec M, Piekarska K, Skowrońska B, Wajda-Cuszlag M, Mazur A, Zmysłowska A.   +9 more
europepmc   +1 more source

Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants. [PDF]

Orphanet J Rare Dis
Bhuiyan I, Chou FY, Roberts JM, Franciosi A, Quon BS.   +4 more
europepmc   +1 more source

Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort. [PDF]

Hum Genet
Wei D, Cheng Z, Wei W, Gui C, Liu J, Chen H, Ma Y, Peng X, Yu D, Huang Y, Lai Y, Gui B.   +11 more
europepmc   +1 more source

P445: Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients [PDF]

Sara Berger, Jamie Weyandt, Marcy E. Richardson, CHARLES H. MAYO, Andrés Morales Corado   +4 more
openalex   +1 more source

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods. [PDF]

Sci Rep
Molaei N, Alagha P, Khanbazi A, Beheshtian M, Ahangari F, Dehdahsi S, Fadaee M, Ashki M, Ghaderi Z, Elahi Z, Vazehan R, Parsimehr E, Nouri MM, Saei P, Noudehi K, Fatehi F, Najafabadi SZ, Abolhassani A, Afroozan F, Yazdan H, Kelishomi MA, Azad M, Parvini F, Kassaee SM, Ramezani M, Zemorshidi F, Salimipour H, Abdi S, Bakhshandeh M, Fayyazi A, Zamani G, Ashrafi MR, Jamali P, Sarraf P, Okhovat AA, Ashtiani BH, Fatehi F, Karimzadeh P, Nafissi S, Kahrizi K, Kariminejad A, Najmabadi H.   +41 more
europepmc   +1 more source

Screening of the copy number increase of AKT in lung carcinoma by custom-designed MLPA.

, 2019
Kentaro Minegishi, Yoh Dobashi, Hiroyoshi Tsubochi, Ryoko Tokuda, Koji Okudela, Akishi Ooi   +5 more
openalex   +1 more source

MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene [PDF]

, 2016
Leonela Luce, Viviana Dalamón, Marcela Ferrer, Diana Parma, Irene Szijan, Florencia Giliberto   +5 more
openalex   +1 more source