Published papers
Kosaki Kenjiro
221-240 items (total 326)
Experience of Risk-reducing Salpingo-oophorectomy for a BRCA1 Mutation Carrier and Establishment of a System Performing a Preventive Surgery for Hereditary Breast and Ovarian Cancer Syndrome in Japan: Our Challenges for the Future.
- Author
- KOSAKI KENJIROHirasawa A, Masuda K, Akahane T, Tsuruta T, Banno K, Makita K, Susumu N, Jinno H, Kitagawa Y, Sugano K, Kosaki K, Aoki D.
- Publication Title
- Magazine name Jpn J Clin Oncol Volume 43(Issue 5) Start Page 515-519 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis.
- Author
- KOSAKI KENJIROTakenouchi T, Nishina S, Kosaki R, Torii C, Furukawa R, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Eur J Med Genet Volume 56(Issue 1) Start Page 50-53 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1.
- Author
- KOSAKI KENJIRONomura T, Takenouchi T, Fukushima H, Shimozato S, Kosaki K, Takahashi T.
- Publication Title
- Magazine name J Child Neurol Volume 28(Issue (7)) Start Page 949 - End Page 951 (Publication Date）2013/08）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure
- Author
- KOSAKI KENJIROTakenouchi T, Saito H, Maruoka R, Oishi N, Torii C, Maeda J, Takahashi T
- Publication Title
- Magazine name Am J Med Genet A Volume 161A(Issue 7) Start Page 1733 - End Page 1736 (Publication Date）2013/07）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age.
- Author
- KOSAKI KENJIROOsumi T, Miharu M, Fuchimoto Y, Morioka H, Kosaki K, Shimada H
- Publication Title
- Magazine name Pediatr Blood Cancer Volume 59(Issue 7) Start Page 1332-1333 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
- Author
- KOSAKI KENJIROTakenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 158(Issue 10) Start Page 2621-2623 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.
- Author
- KOSAKI KENJIROTakenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 158(Issue 10) Start Page 2537-2541 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
12q14 microdeletion syndrome and short stature with or without relative macrocephaly.
- Author
- KOSAKI KENJIROTakenouchi T, Enomoto K, Nishida T, Torii C, Okazaki T, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 158(Issue 10) Start Page 2542-2544 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.
- Author
- KOSAKI KENJIROYagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, Sato Y, Kosaki R.
- Publication Title
- Magazine name Congenit Anom Volume 52(Issue 2) Start Page 82-86 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Congenital corneal staphyloma as a complication of Kabuki syndrome.
- Author
- KOSAKI KENJIROTanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 158(Issue 8) Start Page 2000-2002 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Ophthalmic features of CHARGE syndrome with CHD7 mutations.
- Author
- KOSAKI KENJIRONishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 158(Issue 3) Start Page 514-518 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
EEC syndrome-like phenotype in a patient with an IRF6 mutation.
- Author
- KOSAKI KENJIRO,Kosaki R, Kaneko T, Torii C, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 158(Issue A(5)) Start Page 1219-20 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
- Author
- KOSAKI KENJIRO,Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K
- Publication Title
- Magazine name Am J Med Genet A Volume 158(Issue A(4)) Start Page 812-5 (Publication Date）2012）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
- Author
- KOSAKI KENJIROSasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N.
- Publication Title
- Magazine name Clin Genet Start Page 478-483 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.
- Author
- KOSAKI KENJIRO,Fryssira H, Makrythanasis P, Kattamis A, Stokidis K, Menten B, Kosaki K, Willems P, Kanavakis E.
- Publication Title
- Magazine name Mol Syndromol Volume 2(Issue 1) Start Page 45-49 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: a case report and a pathological insight into pilosebaceous anomaly.
- Author
- KOSAKI KENJIRO,Kamo M, Ohyama M, Kosaki K, Amagai M, Ebihara T, Nakayama J, Ishiko A.
- Publication Title
- Magazine name American Journal of Dermatopathology, Volume 33(Issue 4) Start Page 403-6. (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype.
- Author
- KOSAKI KENJIRO,Yoshihashi H, Ohki H, Torii C, Ishiko A, Kosaki K.
- Publication Title
- Magazine name Pediatric Dermatology Volume 28(Issue 5) Start Page 550-4 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg Syndrome.
- Author
- KOSAKI KENJIRO,Watanabe K, Okada E, Kosaki K, Tsuji K, Ishii T, Nakamura M, Chiba K, Toyama Y, Matsumoto M.
- Publication Title
- Magazine name Journal of Pediatric Orthopedics Start Page 186-193 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Monozygotic twins of Rubinstein-Taybi Syndrome discordant for glaucoma.
- Author
- KOSAKI KENJIRO,Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 1189-1191. (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion.
- Author
- KOSAKI KENJIRO,Kosaki R, Fujita H, Ueoka K, Torii C, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 903-905. (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With