Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations von Miyake, N., Tsurusaki, Y., Koshimizu, E., Okamoto, N., Kosho, T., Brown, N.J., Tan, T.Y., Yap, P.J.J., Suzumura, H., Tanaka, T., Nagai, T., Nakashima, M., Saitsu, H., Niikawa, N., Matsumoto, N.

Volltext

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a von Yamasaki, K., Joh, K., Ohta, T., Masuzaki, H., Ishimaru, T., Mukai, T., Niikawa, N., Ogawa, M., Wagstaff, J., Kishino, T.

Volltext

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family von Okubo, A, Miyoshi, O, Baba, K, Takagi, M, Tsukamoto, K, Kinoshita, A, Yoshiura, K, Kishino, T, Ohta, T, Niikawa, N, Matsumoto, N

Volltext

Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism von Masuzaki, H, Miura, K, Yoshiura, K-i, Yoshimura, S, Niikawa, N, Ishimaru, T

Volltext

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III von Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Groß, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.

Volltext

Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment von Nagai, T., Obata, K., Tonoki, H., Temma, S., Murakami, N., Katada, Y., Yoshino, A., Sakazume, S., Takahashi, E., Sakuta, R., Niikawa, N.

Volltext

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) von Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T.

Volltext

A Novel Missense Mutation in Van der Woude Syndrome: Usefulness of Fingernail DNA for Genetic Analysis von Matsuzawa, N., Shimozato, K., Natsume, N., Niikawa, N., Yoshiura, K.

Volltext

Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome von Nagai, T., Obata, K., Ogata, T., Murakami, N., Katada, Y., Yoshino, A., Sakazume, S., Tomita, Y., Sakuta, R., Niikawa, N.

Volltext

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse von PEETERS, H, DEBEER, P, VAN DE VEN, W, DEVRIENDT, K, BAIROCH, A, WILQUET, V, HUYSMANS, C, PARTHOENS, E, FRYNS, J. P, GEWILLIG, M, NAKAMURA, Y, NIIKAWA, N

Volltext

Down-regulation of ABCC11 protein (MRP8) in human breast cancer von Sosonkina, N, Nakashima, M, Ohta, T, Niikawa, N, Starenki, D

Volltext

Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions von Visser, R, Shimokawa, O, Harada, N, Niikawa, N, Matsumoto, N

Volltext

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway von Watanabe, Y., Kinoshita, A., Yamada, T., Ohta, T., Kishino, T., Matsumoto, N., Ishikawa, M., Niikawa, N., Yoshiura, K.

Volltext

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome von Matsuzawa, N, Nagao, T, Shimozato, K, Niikawa, N, Yoshiura, K-i

Volltext

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation von Harada, N, Hatchwell, E, Okamoto, N, Tsukahara, M, Kurosawa, K, Kawame, H, Kondoh, T, Ohashi, H, Tsukino, R, Kondoh, Y, Shimokawa, O, Ida, T, Nagai, T, Fukushima, Y, Yoshiura, K, Niikawa, N, Matsumoto, N

Volltext

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan von Kuniba, H, Tsuda, M, Nakashima, M, Miura, S, Miyake, N, Kondoh, T, Matsumoto, T, Moriuchi, H, Ohashi, H, Kurosawa, K, Tonoki, H, Nagai, T, Okamoto, N, Kato, M, Fukushima, Y, Naritomi, K, Matsumoto, N, Kinoshita, A, Yoshiura, K-i, Niikawa, N

Volltext

Heterozygous TGFBR2 mutations in Marfan syndrome von Kajii, Tadashi, Matsumoto, Naomichi, Morisaki, Takayuki, Morisaki, Hiroko, Collod-Beroud, Gwenaëlle, Ihara, Makoto, Mizuguchi, Takeshi, Claustres, Mireille, Varret, Mathilde, Jondeau, Guillaume, Boileau, Catherine, Yoshiura, Koh-ichiro, Junien, Claudine, Kishino, Tatsuya, Akiyama, Takushi, Kinoshita, Akira, Ohta, Tohru, Abifadel, Marianne, Harada, Naoki, Nakamura, Yusuke, Furukawa, Yoichi, Niikawa, Norio, Allard, Delphine

Volltext

A SNP in the ABCC11 gene is the determinant of human earwax type von Yoshiura, Koh-ichiro, Kinoshita, Akira, Ishida, Takafumi, Ninokata, Aya, Ishikawa, Toshihisa, Kaname, Tadashi, Bannai, Makoto, Tokunaga, Katsushi, Sonoda, Shunro, Komaki, Ryoichi, Ihara, Makoto, Saenko, Vladimir A, Alipov, Gabit K, Sekine, Ichiro, Komatsu, Kazuki, Takahashi, Haruo, Nakashima, Mitsuko, Sosonkina, Nadiya, Mapendano, Christophe K, Ghadami, Mohsen, Nomura, Masayo, Liang, De-Sheng, Miwa, Nobutomo, Kim, Dae-Kwang, Garidkhuu, Ariuntuul, Natsume, Nagato, Ohta, Tohru, Tomita, Hiroaki, Kaneko, Akira, Kikuchi, Mihoko, Russomando, Graciela, Hirayama, Kenji, Ishibashi, Minaka, Takahashi, Aya, Saitou, Naruya, Murray, Jeffery C, Saito, Susumu, Nakamura, Yusuke, Niikawa, Norio

Volltext

47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region von Miyoshi, Osamu, Kondoh, Tatsuro, Taneda, Hiroshi, Otsuka, Kojiro, Matsumoto, Tadashi, Niikawa, Norio

Volltext

Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion von Visser, Remco, Shimokawa, Osamu, Harada, Naoki, Kinoshita, Akira, Ohta, Tohru, Niikawa, Norio, Matsumoto, Naomichi

Volltext