Kido Y - Search Results

1

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J. Vegas N, et al. Among authors: kido y. Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35170830

2

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. Kido Y, et al. Am J Med Genet A. 2013 Sep;161A(9):2339-46. doi: 10.1002/ajmg.a.36066. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913798

3

Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss.

Sakazume S, Kido Y, Murakami N, Matsubara T, Numabe H. Sakazume S, et al. Among authors: kido y. Pediatr Int. 2015 Oct;57(5):880-3. doi: 10.1111/ped.12742. Pediatr Int. 2015. PMID: 26114601

4

Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.

Sakazume S, Ohashi H, Sasaki Y, Harada N, Nakanishi K, Sato H, Emi M, Endoh K, Sohma R, Kido Y, Nagai T, Kubota T. Sakazume S, et al. Among authors: kido y. Hum Genet. 2012 Jan;131(1):121-30. doi: 10.1007/s00439-011-1051-4. Epub 2011 Jul 7. Hum Genet. 2012. PMID: 21735174

5

Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study.

Kido Y, Sakazume S, Abe Y, Oto Y, Itabashi H, Shiraishi M, Yoshino A, Tanaka Y, Obata K, Murakami N, Nagai T. Kido Y, et al. Am J Med Genet A. 2013 Sep;161A(9):2167-73. doi: 10.1002/ajmg.a.36048. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897656

6

Scoliosis in Prader-Willi syndrome: effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progression.

Murakami N, Obata K, Abe Y, Oto Y, Kido Y, Itabashi H, Tsuchiya T, Tanaka Y, Yoshino A, Nagai T. Murakami N, et al. Among authors: kido y. Am J Med Genet A. 2012 Jul;158A(7):1628-32. doi: 10.1002/ajmg.a.35429. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678776

7

QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.

Ihara H, Ogata H, Sayama M, Kato A, Gito M, Murakami N, Kido Y, Nagai T. Ihara H, et al. Among authors: kido y. Am J Med Genet A. 2014 Sep;164A(9):2226-31. doi: 10.1002/ajmg.a.36634. Epub 2014 Jun 20. Am J Med Genet A. 2014. PMID: 24953026 Free PMC article.

8

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.

Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H. Mishra D, et al. Among authors: kido y. Mol Cytogenet. 2014 Aug 13;7:55. doi: 10.1186/s13039-014-0055-x. eCollection 2014. Mol Cytogenet. 2014. PMID: 25478009 Free PMC article.

9

Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: a comparison between maternal uniparental disomy and deletion cases.

Ogata H, Ihara H, Murakami N, Gito M, Kido Y, Nagai T. Ogata H, et al. Among authors: kido y. Am J Med Genet A. 2014 Sep;164A(9):2180-6. doi: 10.1002/ajmg.a.36615. Epub 2014 May 21. Am J Med Genet A. 2014. PMID: 24850752 Free PMC article.

10

Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.

Inoue T, Murakami N, Sakadume S, Kido Y, Kikuchi A, Ichinoi N, Suzuki K, Kure S, Sakuta R. Inoue T, et al. Among authors: kido y. Pediatr Int. 2015 Aug;57(4):798-801. doi: 10.1111/ped.12689. Pediatr Int. 2015. PMID: 26315205

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