Yamada, Koichiro, Tsukahara, Tomonori, Yoshino, Kazuhisa, Kojima, Katsuhiko, Agawa, Hideyuki, Yamashita, Yuki, ...
Abstract Therapeutic retroviral vector integration near the oncogene LMO2 is thought to be a cause of leukemia in X-SCID gene therapy trials. However, no published studies have evaluated the...
Kurotaki, Naohiro, Stankiewicz, Pawel, Wakui, Keiko, Niikawa, Norio, Lupski, James R.
Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofacial features and advanced bone age. As NSD1 haploinsufficiency was determined in...
Kurotaki, Naohiro, Stankiewicz, Pawel, Wakui, Keiko, Niikawa, Norio, Lupski, James R.
Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofacial features, and advanced bone age. Since NSD1 haploinsufficiency was determined...
Spiteri, Elizabeth, Babcock, Melanie, Kashork, Catherine D., Wakui, Keiko, Gogineni, Swarna, Lewis, Debbie A., ...
The chromosome 22q11.2 region is susceptible to rearrangements, mediated by low copy repeats (LCR22s). Deletions and duplications are mediated by homologous recombination events between LCR22s. The...
Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3
Ghadami, Mohsen, Makita, Yoshio, Yoshida, Kunihiro, Nishimura, Gen, Fukushima, Yoshimitsu, Wakui, Keiko, ...
Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal...
Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1
Tomita, Hiro-aki, Nagamitsu, Shinichiro, Wakui, Keiko, Fukushima, Yoshimitsu, Yamada, Koki, Sadamatsu, Miyuki, ...
Paroxysmal kinesigenic choreoathetosis (PKC), the most frequently described type of paroxysmal dyskinesia, is characterized by recurrent, brief attacks of involuntary movements induced by sudden...
Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements
Stankiewicz, Paweł, Shaw, Christine J., Dapper, Jason D., Wakui, Keiko, Shaffer, Lisa G., Withers, Marjorie, ...
To investigate the potential involvement of genome architecture in nonrecurrent chromosome rearrangements, we analyzed the breakpoints of eight translocations and 18 unusual-sized deletions involving...
Mendoza-Londono, Roberto, Lammer, Edward, Watson, Rosemarie, Harper, John, Hatamochi, Atsushi, Hatamochi-Hayashi, Saori, ...
We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects,...
Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3
Ghadami, Mohsen, Makita, Yoshio, Yoshida, Kunihiro, Nishimura, Gen, Fukushima, Yoshimitsu, Wakui, Keiko, ...
Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal...
Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1
Tomita, Hiro-aki, Nagamitsu, Shinichiro, Wakui, Keiko, Fukushima, Yoshimitsu, Yamada, Koki, Sadamatsu, Miyuki, ...
Paroxysmal kinesigenic choreoathetosis (PKC), the most frequently described type of paroxysmal dyskinesia, is characterized by recurrent, brief attacks of involuntary movements induced by sudden...
Yamada, Koichiro, Tsukahara, Tomonori, Yoshino, Kazuhisa, Kojima, Katsuhiko, Agawa, Hideyuki, Yamashita, Yuki, ...
Therapeutic retroviral vector integration near the oncogene LMO2 is thought to be a cause of leukemia in X-SCID gene therapy trials. However, no published studies have evaluated the frequency of...