|
🐜
|
Germline mutations in HRAS proto-oncogene cause Costello syndrome
11 auth.
Y. Aoki,
T. Niihori,
H. Kawame,
K. Kurosawa,
H. Ohashi,
Yukichi Tanaka,
...
M. Filocamo,
Kumi Kato,
Yoichi Suzuki,
S. Kure,
Y. Matsubara
|
9 |
2005 |
9
🐜
|
|
🐜
|
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
24 auth.
T. Niihori,
Y. Aoki,
Y. Narumi,
G. Neri,
H. Cavé,
A. Verloes,
N. Okamoto,
R. Hennekam,
G. Gillessen‐Kaesbach,
D. Wieczorek,
...
M. I. Kavamura,
K. Kurosawa,
H. Ohashi,
L. Wilson,
D. Heron,
D. Bonneau,
G. Corona,
T. Kaname,
K. Naritomi,
C. Baumann,
N. Matsumoto,
Kumi Kato,
S. Kure,
Y. Matsubara
|
9 |
2006 |
9
🐜
|
|
🐜
|
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
13 auth.
S. Giglio,
K. Broman,
N. Matsumoto,
V. Calvari,
G. Gimelli,
T. Neumann,
H. Ohashi,
L. Voullaire,
D. Larizza,
R. Giorda,
...
J. Weber,
D. Ledbetter,
O. Zuffardi
|
8 |
2001 |
8
🐜
|
|
🐜
|
An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome
13 auth.
I. Hatada,
H. Ohashi,
Y. Fukushima,
Y. Kaneko,
M. Inoue,
Yosuke Komoto,
A. Okada,
S. Ohishi,
A. Nabetani,
H. Morisaki,
...
M. Nakayama,
N. Niikawa,
T. Mukai
|
8 |
1996 |
8
🐜
|
|
🐜
|
Haploinsufficiency of NSD1 causes Sotos syndrome
23 auth.
N. Kurotaki,
K. Imaizumi,
N. Harada,
M. Masuno,
T. Kondoh,
T. Nagai,
H. Ohashi,
K. Naritomi,
M. Tsukahara,
Y. Makita,
...
T. Sugimoto,
T. Sonoda,
T. Hasegawa,
Y. Chinen,
Hiro-aki Tomita,
A. Kinoshita,
T. Mizuguchi,
K. Yoshiura,
T. Ohta,
T. Kishino,
Y. Fukushima,
N. Niikawa,
N. Matsumoto
|
8 |
2002 |
8
🐜
|
|
🐜
|
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
24 auth.
M. Kagami,
Y. Sekita,
G. Nishimura,
Masahito Irie,
Fumiko Kato,
Michiyo Okada,
S. Yamamori,
H. Kishimoto,
M. Nakayama,
Yukichi Tanaka,
...
K. Matsuoka,
Tsutomu Takahashi,
M. Noguchi,
Yoko Tanaka,
K. Masumoto,
T. Utsunomiya,
H. Kouzan,
Y. Komatsu,
H. Ohashi,
K. Kurosawa,
K. Kosaki,
A. Ferguson-Smith,
F. Ishino,
T. Ogata
|
8 |
2008 |
8
🐜
|
|
🐜
|
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
25 auth.
Y. Aoki,
T. Niihori,
Toshihiro Banjo,
N. Okamoto,
S. Mizuno,
K. Kurosawa,
T. Ogata,
F. Takada,
M. Yano,
Toru Ando,
Tadataka Hoshika,
C. Barnett,
H. Ohashi,
H. Kawame,
T. Hasegawa,
...
T. Okutani,
Tatsuo Nagashima,
S. Hasegawa,
R. Funayama,
Takeshi Nagashima,
K. Nakayama,
Shin-ichi Inoue,
Yusuke Watanabe,
T. Ogura,
Y. Matsubara
|
8 |
2013 |
8
🐜
|
|
🐜
|
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
14 auth.
U. Schell,
A. Hehr,
G. Feldman,
N. Robin,
E. Zackai,
C. D. Die-Smulders,
D. Viskochil,
J. Stewart,
G. Wolff,
H. Ohashi,
...
R. Price,
M. Cohen,
M. Muenke,
M. Muenke
|
7 |
1995 |
7
🐜
|
|
🐜
|
KDM6A Point Mutations Cause Kabuki Syndrome
11 auth.
N. Miyake,
S. Mizuno,
N. Okamoto,
H. Ohashi,
M. Shiina,
K. Ogata,
...
Y. Tsurusaki,
M. Nakashima,
H. Saitsu,
N. Niikawa,
N. Matsumoto
|
7 |
2013 |
7
🐜
|
|
🐜
|
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
36 auth.
M. Hannibal,
K. Buckingham,
Sarah B. H. Ng,
J. Ming,
A. Beck,
M. McMillin,
Heidi Gildersleeve,
A. Bigham,
H. Tabor,
H. Mefford,
Joseph Cook,
K. Yoshiura,
Tadashi Matsumoto,
N. Matsumoto,
N. Miyake,
...
H. Tonoki,
K. Naritomi,
T. Kaname,
T. Nagai,
H. Ohashi,
K. Kurosawa,
J. Hou,
T. Ohta,
De-Hai Liang,
A. Sudo,
C. Morris,
S. Banka,
G. Black,
J. Clayton-Smith,
D. Nickerson,
E. Zackai,
T. Shaikh,
D. Donnai,
N. Niikawa,
J. Shendure,
M. Bamshad
|
7 |
2011 |
7
🐜
|
|
🐜
|
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.
13 auth.
T. Kosho,
Koji Muroya,
T. Nagai,
Masatoshi Fujimoto,
Susumu Yokoya,
Hiromi Sakamoto,
Takeki Hirano,
Hiroshi Terasaki,
H. Ohashi,
Gen Nishimura,
...
S. Sato,
N. Matsuo,
Tsutomu Ogata
|
7 |
1999 |
7
🐜
|
