1. A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex. Issue 3 (6th February 2022) Authors: Ito, Shin; Hashimoto, Aya; Yamaguchi, Kazunori; Kawamura, Sadafumi; Myoen, Shingo; Ogawa, Maki; Sato, Ikuro; Minato, Takamichi; Miyabe, Shingo; Nakazato, Akira; Fujii, Keitaro; Mochizuki, Mai; Fujimori, Haruna; Tamai, Keiichi; Niihori, Tetsuya; Aoki, Yoko; Sugawara, Akira; Sasano, Hironobu; Shima... Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 3(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. (25th November 2014) Authors: Nishi, Eriko; Mizuno, Seiji; Nanjo, Yuka; Niihori, Tetsuya; Fukushima, Yoshimitsu; Matsubara, Yoichi; Aoki, Yoko; Kosho, Tomoki Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. (25th April 2015) Authors: Kuroda, Yukiko; Ohashi, Ikuko; Enomoto, Yumi; Naruto, Takuya; Baba, Naoko; Tanaka, Yukichi; Aida, Noriko; Okamoto, Nobuhiko; Niihori, Tetsuya; Aoki, Yoko; Kurosawa, Kenji Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice. (14th September 2017) Authors: Inoue, Shin-Ichi; Takahara, Shingo; Yoshikawa, Takeo; Niihori, Tetsuya; Yanai, Kazuhiko; Matsubara, Yoichi; Aoki, Yoko Journal: Human molecular genetics Issue: Volume 26:Number 23(2017:Dec. 01) Page Start: 4715 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome. (24th December 2019) Authors: Niitsuma, Sou; Kudo, Hiroki; Kikuchi, Atsuo; Hayashi, Takaya; Kumakura, Satoshi; Kobayashi, Shuhei; Okuyama, Yuko; Kumagai, Naonori; Niihori, Tetsuya; Aoki, Yoko; So, Takanori; Funayama, Ryo; Nakayama, Keiko; Shirota, Matsuyuki; Kondo, Shuji; Kagami, Shoji; Tsukaguchi, Hiroyasu; Iijima, Kazumoto;... Journal: International immunology Issue: Volume 32:Number 4(2020) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome. Issue 12 (17th August 2007) Authors: Nava, Caroline; Hanna, Nadine; Michot, Caroline; Pereira, Sabrina; Pouvreau, Nathalie; Niihori, Tetsuya; Aoki, Yoko; Matsubara, Yoichi; Arveiler, Benoit; Lacombe, Didier; Pasmant, Eric; Parfait, Béatrice; Baumann, Clarisse; Héron, Delphine; Sigaudy, Sabine; Toutain, Annick; Rio, Marlène; Goldenbe... Journal: Journal of medical genetics Issue: Volume 44:Issue 12(2007) Page Start: 763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 38, Issue 7. Issue 7 (13th June 2017) Authors: Tanigawa, Junpei; Mimatsu, Haruka; Mizuno, Seiji; Okamoto, Nobuhiko; Fukushi, Daisuke; Tominaga, Koji; Kidokoro, Hiroyuki; Muramatsu, Yukako; Nishi, Eriko; Nakamura, Shota; Motooka, Daisuke; Nomura, Noriko; Hayasaka, Kiyoshi; Niihori, Tetsuya; Aoki, Yoko; Nabatame, Shin; Hayakawa, Masahiro; Natsu... Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 38, Issue 7. Issue 7 (July 2017) Authors: Tanigawa, Junpei; Mimatsu, Haruka; Mizuno, Seiji; Okamoto, Nobuhiko; Fukushi, Daisuke; Tominaga, Koji; Kidokoro, Hiroyuki; Muramatsu, Yukako; Nishi, Eriko; Nakamura, Shota; Motooka, Daisuke; Nomura, Noriko; Hayasaka, Kiyoshi; Niihori, Tetsuya; Aoki, Yoko; Nabatame, Shin; Hayakawa, Masahiro; Natsu... Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cover. Issue 3 (15th March 2022) Authors: Ito, Shin; Hashimoto, Aya; Yamaguchi, Kazunori; Kawamura, Sadafumi; Myoen, Shingo; Ogawa, Maki; Sato, Ikuro; Minato, Takamichi; Miyabe, Shingo; Nakazato, Akira; Fujii, Keitaro; Mochizuki, Mai; Fujimori, Haruna; Tamai, Keiichi; Niihori, Tetsuya; Aoki, Yoko; Sugawara, Akira; Sasano, Hironobu; Shima... Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 3(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. Issue 7 (8th May 2018) Authors: Tamura, Akihiro; Uemura, Suguru; Matsubara, Kousaku; Kozuki, Eru; Tanaka, Toshikatsu; Nino, Nanako; Yokoi, Takehito; Saito, Atsuro; Ishida, Toshiaki; Hasegawa, Daiichiro; Umeki, Ikumi; Niihori, Tetsuya; Nakazawa, Yozo; Koike, Kenichi; Aoki, Yoko; Kosaka, Yoshiyuki Journal: Clinical case reports Issue: Volume 6:Issue 7(2018) Page Start: 1202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗