Yoshihashi H - Search Results

1

Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

Uehara T, Sanuki R, Ogura Y, Yokoyama A, Yoshida T, Futagawa H, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Matsubara K, Hirata H, Kosaki K, Takano-Shimizu T. Uehara T, et al. Among authors: yoshihashi h. Am J Med Genet A. 2021 Jul;185(7):2084-2093. doi: 10.1002/ajmg.a.62226. Epub 2021 May 11. Am J Med Genet A. 2021. PMID: 33973697 Free PMC article.

2

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Yoshihashi H, et al. Am J Hum Genet. 2000 Aug;67(2):476-82. doi: 10.1086/302997. Epub 2000 Jun 12. Am J Hum Genet. 2000. PMID: 10856193 Free PMC article.

3

Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.

Kosaki K, Yoshihashi H, Ohashi Y, Kosaki R, Suzuki T, Matsuo N. Kosaki K, et al. Among authors: yoshihashi h. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):111-9. doi: 10.1016/s0165-022x(00)00157-3. J Biochem Biophys Methods. 2001. PMID: 11179767

4

[Short-limb skeletal dysplasia with immunodeficiency].

Kosaki K, Yoshihashi H. Kosaki K, et al. Among authors: yoshihashi h. Ryoikibetsu Shokogun Shirizu. 2000;(32):324-6. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11212732 Review. Japanese. No abstract available.

5

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder.

Kosaki K, Suzuki T, Kosaki R, Yoshihashi H, Itoh M, Goto Y, Matsuo N. Kosaki K, et al. Among authors: yoshihashi h. Mol Psychiatry. 2001 Jan;6(1):87-91. doi: 10.1038/sj.mp.4000799. Mol Psychiatry. 2001. PMID: 11244491

6

Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.

Maeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K. Maeyama K, et al. Among authors: yoshihashi h. Teratology. 2001 Mar;63(3):119-26. doi: 10.1002/tera.1022. Teratology. 2001. PMID: 11283968

7

[Dermal hypoplasia, focal].

Kosaki K, Yoshihashi H. Kosaki K, et al. Among authors: yoshihashi h. Ryoikibetsu Shokogun Shirizu. 2001;(33):545-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462561 Review. Japanese. No abstract available.

8

[Dwarfism (short limbed)--Peters anomaly of the eye].

Kosaki K, Yoshihashi H. Kosaki K, et al. Among authors: yoshihashi h. Ryoikibetsu Shokogun Shirizu. 2001;(33):574-5. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462576 Review. Japanese. No abstract available.

9

[Silver-Russell syndrome].

Kosaki K, Yoshihashi H. Kosaki K, et al. Among authors: yoshihashi h. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):635-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528937 Review. Japanese. No abstract available.

10

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.

Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K. Kosaki R, et al. Among authors: yoshihashi h. Clin Genet. 2001 Oct;60(4):314-5. doi: 10.1034/j.1399-0004.2001.600411.x. Clin Genet. 2001. PMID: 11683779 No abstract available.

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