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Hideo Kuniba

Explore the profile of Hideo Kuniba including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 11
Citations 44
Followers 0
Related Specialties
Genetics
General Medicine
Pediatrics
Top 10 Co-Authors
Tatsuro Kondoh
Hiroyuki Moriuchi
Koh-Ichiro Yoshiura
Masanori Egashira
Norio Niikawa
Hideki Motomura
Katsuaki Motomura
Akira Kinoshita
Yoshimitsu Fukushima
Noriko Miyake
Published In
Nihon Rinsho
Am J Med Genet A
J Hum Genet
Eur J Med Genet
No To Hattatsu
Affiliations
Soon will be listed here.
Recent Articles
1.
Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group
Kosho T, Kuniba H, Tanikawa Y, Hashimoto Y, Sakurai H
Am J Med Genet A . 2013 May; 161A(7):1531-42. PMID: 23720410
We conducted a questionnaire-based study in collaboration with a Japanese trisomy 18 parental support group. Sixty-five children (female, 68%) with full trisomy 18 were evaluated. Diagnosis was made prenatally in...
2.
Lack of an association between E-selectin gene polymorphisms and risk of Kawasaki disease
Shirakawa T, Ikeda K, Nishimura S, Kuniba H, Nakashima K, Motomura H, et al.
Pediatr Int . 2012 Mar; 54(4):455-60. PMID: 22414298
Background: Coronary artery lesions (CAL) are a serious complication of Kawasaki disease (KD). The increased serum E-selectin level during the acute phase of KD and the association of E-selectin gene...
3.
[Case of drug-induced hypersensitivity syndrome due to lamotrigine: demonstration of sequential reactivation of herpesviruses]
Sato T, Kuniba H, Matsuo M, Matsuzaka T, Moriuchi H
No To Hattatsu . 2012 Feb; 44(1):69-72. PMID: 22352035
Drug-induced hypersensitivity syndrome (DIHS) is a rare but severe multiorgan disorder. The reactivation of human herpesvirus-6 (HHV-6) and other human herpesviruses has been reported to be associated with its pathogenesis....
4.
Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array
Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, et al.
Eur J Med Genet . 2010 Jul; 53(5):244-9. PMID: 20601259
Familial arteriovenous malformations (AVM) in the brain is a very rare disease. It is defined as its occurrence in two or more relatives (up to third-degree relatives) in a family...
5.
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, et al.
J Hum Genet . 2009 Apr; 54(5):304-9. PMID: 19343044
The Kabuki syndrome (KS, OMIM 147920), also known as the Niikawa-Kuroki syndrome, is a multiple congenital anomaly/mental retardation syndrome characterized by a distinct facial appearance. The cause of KS has...
6.
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D
Kuniba H, Pooh R, Sasaki K, Shimokawa O, Harada N, Kondoh T, et al.
Am J Med Genet A . 2008 Jul; 149A(4):785-7. PMID: 18642361
No abstract available.
7.
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome
Kuniba H, Sato D, Yoshiura K, Ohashi H, Kurosawa K, Miyake N, et al.
Am J Med Genet A . 2008 Jun; 146A(14):1893-6. PMID: 18553519
No abstract available.
8.
A Japanese patient with a mild Lenz-Majewski syndrome
Dateki S, Kondoh T, Nishimura G, Motomura K, Yoshiura K, Kinoshita A, et al.
J Hum Genet . 2007 Jun; 52(8):686-689. PMID: 17593321
We report on a sclerosing bone dysplasia, associated with cutis laxa, enamel dysplasia, and mental retardation. The patient was a 17-year-old Japanese boy of normal height and muscular build. Cutis...
9.
[Hall syndrome (Pallister-Hall syndrome)]
Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T
Nihon Rinsho . 2006 Oct; Suppl 3:591-3. PMID: 17022615
No abstract available.
10.
[Rud syndrome]
Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T
Nihon Rinsho . 2006 Oct; Suppl 3:485-7. PMID: 17022593
No abstract available.