Papers - Kosaki Kenjiro
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Congenital corneal staphyloma as a complication of Kabuki syndrome.
KOSAKI KENJIROTanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K.
Am J Med Genet A 158 ( 8 ) 2000-2002 2012
Research paper (scientific journal), Joint Work, Accepted
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Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.
KOSAKI KENJIROYagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, Sato Y, Kosaki R.
Congenit Anom 52 ( 2 ) 82-86 2012
Research paper (scientific journal), Joint Work, Accepted
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12q14 microdeletion syndrome and short stature with or without relative macrocephaly.
KOSAKI KENJIROTakenouchi T, Enomoto K, Nishida T, Torii C, Okazaki T, Takahashi T, Kosaki K.
Am J Med Genet A 158 ( 10 ) 2542-2544 2012
Research paper (scientific journal), Joint Work, Accepted
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Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.
KOSAKI KENJIROTakenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K.
Am J Med Genet A 158 ( 10 ) 2537-2541 2012
Research paper (scientific journal), Joint Work, Accepted
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Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
KOSAKI KENJIROTakenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K.
Am J Med Genet A 158 ( 10 ) 2621-2623 2012
Research paper (scientific journal), Joint Work, Accepted
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The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age.
KOSAKI KENJIROOsumi T, Miharu M, Fuchimoto Y, Morioka H, Kosaki K, Shimada H
Pediatr Blood Cancer 59 ( 7 ) 1332-1333 2012
Research paper (scientific journal), Joint Work, Accepted
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Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
KOSAKI KENJIROSasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N.
Clin Genet 80 478-483 2011
Research paper (scientific journal), Joint Work, Accepted
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Reversible diffuse white matter lesion in Alagille syndrome.
KOSAKI KENJIRO,Takenouchi T, Shimozato S, Kosaki K, Momoshima S, Takahashi T.
Pediatric Neurology 45 ( 1 ) 54-6 2011
Research paper (scientific journal), Joint Work, Accepted
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Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8M base interval.
KOSAKI KENJIRO,Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T.
American Journal of Medical Genetics 155A ( 9 ) 2212-4 2011
Research paper (scientific journal), Joint Work, Accepted
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Reproductive success in patients with Hallermann-Streiff syndrome.
KOSAKI KENJIRO,Numabe H, Sawai H, Yamagata Z, Muto K, Kosaki R, Yuki K, Kosaki K.
American Journal of Medical Genetics 155A ( 9 ) 2311-3 2011
Research paper (scientific journal), Joint Work, Accepted
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Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation.
KOSAKI KENJIRO,Honda H, Takubo K, Oda H, Kosaki K, Tazaki T, Yamasaki N, Miyazaki K, Moore KA, Honda Z, Suda T, Lemischka IR.
Proc Natl Acad Sci U S A 108 2468-2473 2011
Research paper (scientific journal), Joint Work, Accepted
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Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research.
KOSAKI KENJIRO,Kosaki K.
Congenit Anom 51 51:12-15. 2011
Research paper (scientific journal), Single Work, Accepted
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Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion.
KOSAKI KENJIRO,Kosaki R, Fujita H, Ueoka K, Torii C, Kosaki K.
American Journal of Medical Genetics 155 903-905. 2011
Research paper (scientific journal), Joint Work, Accepted
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Monozygotic twins of Rubinstein-Taybi Syndrome discordant for glaucoma.
KOSAKI KENJIRO,Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K.
American Journal of Medical Genetics 155 1189-1191. 2011
Research paper (scientific journal), Joint Work, Accepted
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Surgical treatment for scoliosis in patients with Shprintzen-Goldberg Syndrome.
KOSAKI KENJIRO,Watanabe K, Okada E, Kosaki K, Tsuji K, Ishii T, Nakamura M, Chiba K, Toyama Y, Matsumoto M.
Journal of Pediatric Orthopedics 31 186-193 2011
Research paper (scientific journal), Joint Work, Accepted
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Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype.
KOSAKI KENJIRO,Yoshihashi H, Ohki H, Torii C, Ishiko A, Kosaki K.
Pediatric Dermatology 28 ( 5 ) 550-4 2011
Research paper (scientific journal), Joint Work, Accepted
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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: a case report and a pathological insight into pilosebaceous anomaly.
KOSAKI KENJIRO,Kamo M, Ohyama M, Kosaki K, Amagai M, Ebihara T, Nakayama J, Ishiko A.
American Journal of Dermatopathology, 33 ( 4 ) 403-6. 2011
Research paper (scientific journal), Joint Work, Accepted
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Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.
KOSAKI KENJIRO,Fryssira H, Makrythanasis P, Kattamis A, Stokidis K, Menten B, Kosaki K, Willems P, Kanavakis E.
Mol Syndromol 2 ( 1 ) 45-49 2011
Research paper (scientific journal), Joint Work, Accepted
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遺伝子診療学研究の進歩 再生医学との連携（遺伝子診療学（第2版）--遺伝子診断の進歩とゲノム治療の展望）--（遺伝子診断）
KOSAKI KENJIRO
日本臨床 68 ( 増刊号 ) 71 - 75 2010
Research paper (scientific journal), Joint Work
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Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.
Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki KJ, Yamada Y, Mizuno S, Wakamatsu N.
American Journal of Medical Genetics 152A ( 12 ) 3057-67 2010
Research paper (scientific journal), Joint Work, Accepted