Tonoki H - Search Results

1

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome.

Tonoki H, Saitoh S, Kobayashi K. Tonoki H, et al. Am J Med Genet. 1998 Feb 3;75(4):416-8. doi: 10.1002/(sici)1096-8628(19980203)75:4<416::aid-ajmg13>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9482650

2

Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.

Saitoh S, Hosoki K, Takano K, Tonoki H. Saitoh S, et al. Among authors: tonoki h. Clin Genet. 2007 Oct;72(4):378-80. doi: 10.1111/j.1399-0004.2007.00860.x. Clin Genet. 2007. PMID: 17850637 No abstract available.

3

Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy.

Ichikawa M, Okajima M, Wada T, Gokan Y, Shimakage H, Tonoki H, Saitoh S. Ichikawa M, et al. Among authors: tonoki h. Pediatr Int. 2006 Feb;48(1):97-9. doi: 10.1111/j.1442-200X.2006.02163.x. Pediatr Int. 2006. PMID: 16490083 No abstract available.

4

4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls.

Imamura K, Tonoki H, Wakui K, Fukushima Y, Sasaki S, Yausda K, Takekoshi Y, Tochimaru H. Imamura K, et al. Among authors: tonoki h. Am J Med Genet. 1998 Jun 16;78(1):52-4. Am J Med Genet. 1998. PMID: 9637423

5

Mutchinick syndrome in a Japanese girl.

Tonoki H, Hattori T, Kamoshida H, Ohta Y, Niikawa N. Tonoki H, et al. Am J Med Genet. 1999 Mar 12;83(2):96-9. Am J Med Genet. 1999. PMID: 10190479

6

Identification of an autoimmune enteropathy-related 75-kilodalton antigen.

Kobayashi I, Imamura K, Kubota M, Ishikawa S, Yamada M, Tonoki H, Okano M, Storch WB, Moriuchi T, Sakiyama Y, Kobayashi K. Kobayashi I, et al. Among authors: tonoki h. Gastroenterology. 1999 Oct;117(4):823-30. doi: 10.1016/s0016-5085(99)70340-9. Gastroenterology. 1999. PMID: 10500064

7

A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.

Tonoki H, Kishino T, Niikawa N. Tonoki H, et al. Am J Med Genet. 1990 May;36(1):89-93. doi: 10.1002/ajmg.1320360117. Am J Med Genet. 1990. PMID: 2333912

8

Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.

Kishimoto K, Kobayashi R, Yonemaru N, Yamamoto H, Tsujioka T, Sano H, Suzuki D, Yasuda K, Suzuki M, Ando A, Tonoki H, Iizuka S, Uetake K, Kobayashi K. Kishimoto K, et al. Among authors: tonoki h. J Pediatr Hematol Oncol. 2015 May;37(4):e238-41. doi: 10.1097/MPH.0000000000000236. J Pediatr Hematol Oncol. 2015. PMID: 25171454

9

Standard growth curves for Japanese patients with Prader-Willi syndrome.

Nagai T, Matsuo N, Kayanuma Y, Tonoki H, Fukushima Y, Ohashi H, Murai T, Hasegawa T, Kuroki Y, Niikawa N. Nagai T, et al. Among authors: tonoki h. Am J Med Genet. 2000 Nov 13;95(2):130-4. doi: 10.1002/1096-8628(20001113)95:2<130::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 2000. PMID: 11078562

10

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Niikawa N, et al. Among authors: tonoki h. Am J Med Genet. 1988 Nov;31(3):565-89. doi: 10.1002/ajmg.1320310312. Am J Med Genet. 1988. PMID: 3067577 Review.

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