„Cytogenetics.“

Suchergebnisse

1.000+ Treffer

• Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
  Shah, Khadim ; Ali, Raja Hussain ; Ansar, Muhammad ; Lee, Kwanghyuk ; Chishti, Muhammad Salman ; Abbe, Izoduwa ; Li, Biao ; Smith, Joshua D. ; Nickerson, Deborah A. ; Shendure, Jay ; Coucke, Paul J. ; Steyaert, Wouter ; Bamshad, Michael J. ; Santos-Cortez, Regie Lyn P. ; Leal, Suzanne M. ; Ahmad, Wasim
• A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family
  Khan, Anwar Kamal ; Muhammad, Noor ; Aziz, Abdul ; Khan, Sher Alam ; Shah, Khadim ; Nasir, Abdul ; Khan, Muzammil Ahmad ; Khan, Saadullah
• SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men
  Hirvonen, Katariina ; Laivuori, Hannele ; Lahti, Jari ; STRANDBERG, TIMO ; Eriksson, Johan G. ; Hackman, Peter
• Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population
  Machado, Renato Assis ; de Freitas, Edimilson Martins ; de Aquino, Sibele Nascimento ; Martelli, Daniella Reis B. ; Swerts, Mario Sergio Oliveira ; Reis, Silvia Regina de Almeida ; Persuhn, Darlene Camati ; Moreira, Helenara Salvati Bertolossi ; Dias, Verônica Oliveira ; Coletta, Ricardo D. ; Martelli-Júnior, Hercílio
• Peripheral blood cytogenetics allows treatment monitoring and early identification of treatment failure to lenalidomide in MDS patients: results of the LE-MON-5 trial
  Braulke, Friederike ; Schulz, Xenia ; Germing, Ulrich ; Schuler, Esther ; Platzbecker, Uwe ; Nolte, Florian ; Hofmann, Wolf-Karsten ; Giagounidis, Aristoteles ; Götze, Katharina ; Lübbert, Michael ; Schlenk, Richard Friedrich ; Schanz, Julie ; Bacher, Ulrike ; Ganser, Arnold ; Büsche, Guntram ; Letsch, Anne ; Schafhausen, Philippe ; Bug, Gesine ; Brümmendorf, Tim Henrik ; Haas, Rainer ; Trümper, Lorenz ; Shirneshan, Katayoon ; Haase, Detlef
• Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
  Kim, Do-Hoon ; Chae, Hyojin ; Jo, Irene ; Yoo, JaeEun ; Lee, Hyeyoung ; Jang, Woori ; Park, Joonhong ; Lee, Gun Dong ; Jeon, Dong-Seok ; Lee, Keun Ho ; Hur, Soo Young ; Chae, Byung Joo ; Song, Byung Joo ; Kim, Myungshin ; Kim, Yonggoo
• A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2
  Huang, Bangqing ; Liu, Yanping ; Gao, Xue ; Xu, Jincao ; Dai, Pu ; Zhu, Qingwen ; Yuan, Yongyi
• Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder
  Tang, Fengzhu ; Ma, DengKe ; Wang, Yulan ; Qiu, Yuecai ; Liu, Fei ; Wang, Qingqing ; Lu, Qiutian ; Shi, Min ; Xu, Liang ; Liu, Min ; Liang, Jianping
• Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip
  Basit, Sulman ; Albalawi, Alia M. ; Alharby, Essa ; Khoshhal, Khalid I.
• Mitochondrial mutations in maternally inherited hearing loss
  Mutai, Hideki ; Watabe, Takahisa ; Kosaki, Kenjiro ; Ogawa, Kaoru ; Matsunaga, Tatsuo
• TRPM4 non-selective cation channel variants in long QT syndrome
  Hof, Thomas ; Liu, Hui ; Sallé, Laurent ; Schott, Jean-Jacques ; Ducreux, Corinne ; Millat, Gilles ; Chevalier, Philippe ; Probst, Vincent ; Guinamard, Romain ; Bouvagnet, Patrice
• A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes
  Yon, Dong Keon ; Park, Ji Eun ; Kim, Seung Jun ; Shim, Sung Han ; Chae, Kyu Young
• Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome
  Schoeman, Elizna M. ; Van Der Westhuizen, Francois H. ; Erasmus, Elardus ; van Dyk, Etresia ; Knowles, Charlotte V. Y. ; Al-Ali, Shereen ; Ng, Wan-Fai ; Taylor, Robert W. ; Newton, Julia L. ; Elson, Joanna L.
• Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4
  Tóth, Lola ; Fábos, Beáta ; Farkas, Katalin ; Sulák, Adrienn ; Tripolszki, Kornélia ; Széll, Márta ; Nagy, Nikoletta
• Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa
  Kinnear, Craig ; Glanzmann, Brigitte ; Banda, Eric ; Schlechter, Nikola ; Durrheim, Glenda ; Neethling, Annika ; Nel, Etienne ; Schoeman, Mardelle ; Johnson, Glynis ; van Helden, Paul D. ; Hoal, Eileen G. ; Esser, Monika ; Urban, Michael ; Möller, Marlo
• DNA methylation profiles of elderly individuals subjected to indentured childhood labor and trauma
  Marinova, Zoya ; Maercker, Andreas ; Küffer, Andreas ; Robinson, Mark D. ; Wojdacz, Tomasz K. ; Walitza, Susanne ; Grünblatt, Edna ; Burri, Andrea
• Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing
  Bolognini, Ramona ; Gerth-Kahlert, Christina ; Abegg, Mathias ; Bartholdi, Deborah ; Mathis, Nicolas ; Sturm, Veit ; Gallati, Sabina ; Schaller, André
• Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1
  Albiñana, Virginia ; Zafra, Ma Paz ; Colau, Jorge ; Zarrabeitia, Roberto ; Recio-Poveda, Lucia ; Olavarrieta, Leticia ; Pérez-Pérez, Julian ; Botella, Luisa M.
• Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population
  Henmyr, V. ; Carlberg, D. ; Manderstedt, E. ; Lind-Halldén, C. ; Säll, T. ; Cardell, L. O. ; Halldén, C.
• African ancestry is associated with facial melasma in women: a cross-sectional study
  D’Elia, Maria Paula Barbieri ; Brandão, Marcela Calixto ; de Andrade Ramos, Bruna Ribeiro ; da Silva, Márcia Guimarães ; Miot, Luciane Donida Bartoli ; dos Santos, Sidney Emanuel Batista ; Miot, Hélio Amante