Eléments de l'association
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List of bibliographic references
Number of relevant bibliographic references: 7.| Ident. | Authors (with country if any) | Title |
|---|---|---|
| 005D18 | Harunosuke Kato [Japon] ; Rie Yoshida [Japon] ; Katsuhiko Tsukamoto [Japon] ; Hirotaka Suga [Japon] ; Hitomi Eto [Japon] ; Takuya Higashino [Japon] ; Jun Araki [Japon] ; Tsutomu Ogata [Japon] ; Kotaro Yoshimura [Japon] | Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome) |
| 008C82 | Rie Yoshida [Japon] ; Masafumi Miyata [Japon] ; Toshiro Nagai [Japon] ; Toshio Yamazaki [Japon] ; Tsutomu Ogata [Japon] | A 3‐bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia |
| 008E51 | Tsutomu Ogata [Japon] ; Seiji Sato ; Yukihiro Hasegawa ; Kenjiro Kosaki | Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features. |
| 009373 | Tsutomu Ogata [Japon] | SHOX haploinsufficiency and its modifying factors. |
| 009873 | Tsutomu Ogata [Japon] ; Koji Muroya [Japon] ; Goro Sasaki [Japon] ; Gen Nishimura [Japon] ; Hiroshi Kitoh [Japon] ; Tadashi Hattori [Japon] | SHOX nullizygosity and haploinsufficiency in a japanese family : Implication for the development of Turner skeletal features |
| 00C117 | Tomonobu Hasegawa [Japon] ; Tsutomu Ogata [Japon] ; Yukihiro Hasegawa [Japon] ; Masataka Honda [Japon] ; Toshiro Nagai [Japon] ; Yoshimitsu Fukushima [Japon] ; Yutaka Nakahori [Japon] ; Nobutake Matsuo [Japon] | Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata |
| 00C484 | Tsutomu Ogata [Japon] ; Nobutake Matsuo [Japon] | Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features |
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