Yanagi K - Search Results

1

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.

Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Among authors: yanagi k. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334

2

Novel alternative splicing of human faciogenital dysplasia 1 gene.

Yanagi K, Kaname T, Chinen Y, Naritomi K. Yanagi K, et al. Congenit Anom (Kyoto). 2004 Sep;44(3):137-41. doi: 10.1111/j.1741-4520.2004.00026.x. Congenit Anom (Kyoto). 2004. PMID: 15327482

3

Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.

Kaname T, Yanagi K, Okamoto N, Naritomi K. Kaname T, et al. Among authors: yanagi k. Am J Med Genet A. 2006 Jun 15;140(12):1331-2. doi: 10.1002/ajmg.a.31253. Am J Med Genet A. 2006. PMID: 16688726 No abstract available.

4

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).

Chinen Y, Kaname T, Yanagi K, Saito N, Naritomi K, Ohta T. Chinen Y, et al. Among authors: yanagi k. Am J Med Genet A. 2006 Aug 1;140(15):1655-7. doi: 10.1002/ajmg.a.31341. Am J Med Genet A. 2006. PMID: 16835930

5

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K. Yanagi K, et al. Autism Res Treat. 2012;2012:724072. doi: 10.1155/2012/724072. Epub 2012 Jul 16. Autism Res Treat. 2012. PMID: 22934180 Free PMC article.

6

A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Kaname T, Yanagi K, Naritomi K. Kaname T, et al. Among authors: yanagi k. J Hum Genet. 2013 Feb;58(2):57. doi: 10.1038/jhg.2012.138. Epub 2012 Nov 29. J Hum Genet. 2013. PMID: 23190750 No abstract available.

7

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitoh S, Sugiura-Ogasawara M. Suzumori N, et al. Among authors: yanagi k. J Obstet Gynaecol Res. 2013 Nov;39(11):1545-7. doi: 10.1111/jog.12081. Epub 2013 Jul 2. J Obstet Gynaecol Res. 2013. PMID: 23815237

8

A commentary on the promise of whole-exome sequencing in medical genetics.

Kaname T, Yanagi K, Naritomi K. Kaname T, et al. Among authors: yanagi k. J Hum Genet. 2014 Mar;59(3):117-8. doi: 10.1038/jhg.2014.7. Epub 2014 Feb 6. J Hum Genet. 2014. PMID: 24500682 No abstract available.

9

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Kaname T, Yanagi K. Kaname T, et al. Among authors: yanagi k. J Hum Genet. 2017 Aug;62(8):739-740. doi: 10.1038/jhg.2017.58. Epub 2017 Jun 1. J Hum Genet. 2017. PMID: 28566769 Free PMC article. No abstract available.

10

Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report.

Ganaha A, Tono T, Kaname T, Yanagi K, Higa T, Kondo S, Maeda H, Suzuki M. Ganaha A, et al. Among authors: yanagi k. Otol Neurotol. 2017 Aug;38(7):990-995. doi: 10.1097/MAO.0000000000001481. Otol Neurotol. 2017. PMID: 28609304

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