Papers - Kosaki Kenjiro
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Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM.
KOSAKI KENJIRONakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Tanaka S, Kato M.
Pediatr Neurol 52 ( 5 ) e7 - e8 2015.05
Research paper (scientific journal), Joint Work
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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation
KOSAKI KENJIROTakenouchi T, Sakamoto Y, Torii C, Hata K, Kosaki R
Am J Med Genet A 167 ( 4 ) 907 - 909 2015.04
Research paper (scientific journal), Joint Work
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Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3
KOSAKI KENJIROHarada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kanemura Y, Yamasaki M
Childs Nerv Syst 31 ( 3 ) 465 - 471 2015.03
Research paper (scientific journal), Joint Work
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A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.
KOSAKI KENJIRO Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kanemura Y, Tsunoda T.
Sci Rep 19 ( 5 ) 9331 2015.03
Research paper (scientific journal), Joint Work
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Truncating mutation in NFIA causes brain malformation and urinary tract defects
KOSAKI KENJIRONegishi Y,Miya F,Hattori A,Mizuno K, Hori I ,Ando N, Okamoto N,Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Saitoh S
Human Genome Variation 2 15007 2015.02
Research paper (scientific journal), Joint Work, Accepted
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Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation
KOSAKI KENJIRO161.Takenouchi T, Yamaguchi Y,1 Tanikawa A, Kosaki R, Okano H, Kosaki K.
J Pediatr 166 ( (2) ) 483 - 486 2015.02
Research paper (scientific journal), Joint Work
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Paramagnetic Signals in the Globus Pallidus as Late Radiographic Sign of Juvenile-Onset GM1 Gangliosidosis.
KOSAKI KENJIRO159.Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K.
Pediatr Neurol. 166 ( (2) ) 483 - 486 2015.02
Research paper (scientific journal), Joint Work
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Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation.
KOSAKI KENJIRO Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K.
Am J Med Genet 167 ( (1) ) 156 - 158 2015.01
Research paper (scientific journal), Joint Work
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Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways.
KOSAKI KENJIRO Takenouchi T, Sakamoto Y, Miwa T, Torii C, Kosaki R, Kishi K, Takahashi T, Kosaki K.
Am J Med Genet A 164 ( (11) ) 2869 - 2872 2014
Research paper (scientific journal), Joint Work
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A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
KOSAKI KENJIRO Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T
Pituitary 17 ( (6) ) 569 - 574 2014
Research paper (scientific journal), Joint Work
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Somatic CTNNB1 mutation in hepatoblastoma from a patient withSimpson-Golabi-Behmel syndrome and germline GPC3 mutation.
KOSAKI KENJIRO Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K .
Am J Med Genet A 164A ( (4) ) 392 - 396 2014
Research paper (scientific journal), Joint Work
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Multiple café au lait spots in familial patients with MAP2K2 mutation
KOSAKI KENJIRO Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K.
Am J Med Genet A 164 ( (2) ) 392 - 396 2014
Research paper (scientific journal), Joint Work
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Family History and BRCA1/BRCA2 Status Among Japanese Ovarian Cancer Patients and Occult Cancer in a BRCA1 Mutant Case
KOSAKI KENJIRO Hirasawa A, Masuda K, Akahane T, Ueki A, Yokota M, Tsuruta T, Nomura H, Kataoka F, Tominaga E, Banno K, Makita K, Susumu N, Sugano K, Kosaki K, Kameyama K, Aoki D.
Jpn J Clin Oncol 44 ( (1) ) 49 - 56 2014
Research paper (scientific journal), Joint Work
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1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.
KOSAKI KENJIRO Takenouchi T, Hashida N, Torii C, Kosaki R, Takahashi T, Kosaki K
Am J Med Genet A. 164 ( (2) ) 456 - 460 2014
Research paper (scientific journal), Joint Work
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SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype
KOSAKI KENJIRO Takenouchi T, Matsuzaki Y, Yamamoto K, Kosaki K, Torii C, Takahashi T, Kosaki K.
Eur J Med Genet 57 ( (6) ) 298 - 301 2014
Research paper (scientific journal), Joint Work
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Progressive cognitive decline in an adult patient with cleidocranial dysplasia.
KOSAKI KENJIRO Takenouchi T, Sato W, Torii C, Kosaki K.
Eur J Med Genet. 57 ( (7) ) 319 - 321 2014
Research paper (scientific journal), Joint Work
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Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
KOSAKI KENJIRO Shoji Y, Ida S, Etani Y, Yamada H, Kayatani F, Suzuki Y, Kosaki K, Okamoto N.
Clin Pediatr Endocrinol. 23 ( (2) ) 45 - 51 2014
Research paper (scientific journal), Joint Work
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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations
KOSAKI KENJIRO Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano SI, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N.
Am J Med Genet A. 164 ( (8) ) 1899 - 1908 2014
Research paper (scientific journal), Joint Work
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Coexistence of two distinct fascinating cardiovascular disorders: Heterotaxy syndrome with left ventricular non-compaction and vasospastic angina.
KOSAKI KENJIRO Egashira T, Yuasa S, Kimura M, Sawano M, Anzai A, Hayashida K, Kawamura A, Kimura T, Nishiyama N, Aizawa Y, Takatsuki S, Tsuruta H, Murata M, Yamada Y, Kohno T, Maekawa Y, Sano M, Kosaki K, Fukuda K
Int J Cardiol 174 ( (2) ) e54 - 56 2014
Research paper (scientific journal), Joint Work
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Clinical Utility of an Array Comparative Genomic Hybridization Analysis for Williams Syndrome
KOSAKI KENJIRO Yagihashi T, Torii C, Takahashi R, Omori M, Kosaki R, Yoshihashi H, Ihara M, Minagawa-Kawai Y, Yamamoto J, Takahashi T, Kosaki K
Congenit Anom (Kyoto) 54 ( (4) ) 225 - 227 2014
Research paper (scientific journal)