Yamamori S - Search Results

1

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.

Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Fukami M, et al. Among authors: yamamori s. Am J Med Genet A. 2005 Aug 15;137(1):72-6. doi: 10.1002/ajmg.a.30852. Am J Med Genet A. 2005. PMID: 16007631 Review.

2

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.

Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Kagami M, et al. Among authors: yamamori s. Nat Genet. 2008 Feb;40(2):237-42. doi: 10.1038/ng.2007.56. Epub 2008 Jan 6. Nat Genet. 2008. PMID: 18176563

3

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy.

Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T. Shiihara T, et al. Among authors: yamamori s. Am J Med Genet A. 2004 Jul 15;128A(2):214-6. doi: 10.1002/ajmg.a.20552. Am J Med Genet A. 2004. PMID: 15214020 No abstract available.

4

Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).

Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N. Hiraki Y, et al. Among authors: yamamori s. Am J Med Genet A. 2006 Aug 15;140(16):1773-7. doi: 10.1002/ajmg.a.31364. Am J Med Genet A. 2006. PMID: 16835918

5

Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients.

Muto R, Yamamori S, Ohashi H, Osawa M. Muto R, et al. Among authors: yamamori s. Am J Med Genet. 2002 Apr 1;108(4):285-9. doi: 10.1002/ajmg.10094. Am J Med Genet. 2002. PMID: 11920832

6

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N. Kondo Y, et al. Among authors: yamamori s. Am J Med Genet A. 2006 Feb 1;140(3):227-32. doi: 10.1002/ajmg.a.31073. Am J Med Genet A. 2006. PMID: 16411203

7

Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism.

Shimizu R, Mitsui N, Mori Y, Cho S, Yamamori S, Osawa M, Ohashi H. Shimizu R, et al. Among authors: yamamori s. Am J Med Genet A. 2008 Jun 1;146A(11):1458-61. doi: 10.1002/ajmg.a.32319. Am J Med Genet A. 2008. PMID: 18449926

8

9q34.3 deletion syndrome in three unrelated children.

Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N. Iwakoshi M, et al. Among authors: yamamori s. Am J Med Genet A. 2004 Apr 30;126A(3):278-83. doi: 10.1002/ajmg.a.20602. Am J Med Genet A. 2004. PMID: 15054842 Review.

9

Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature.

Uehara S, Hanew K, Harada N, Yamamori S, Nata M, Niikawa N, Okamura K. Uehara S, et al. Among authors: yamamori s. Am J Med Genet. 2001 Mar 15;99(3):196-9. doi: 10.1002/1096-8628(20010315)99:3<196::aid-ajmg1157>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11241489

10

Molecular genetic alterations and gene expression profile of a malignant rhabdoid tumor of the kidney.

Nagata T, Takahashi Y, Ishii Y, Asai S, Sugahara-Kobayashi M, Nishida Y, Murata A, Yamamori S, Ogawa Y, Nakamura T, Murakami H, Nakamura M, Shichino H, Chin M, Sugito K, Ikeda T, Koshinaga T, Mugishima H. Nagata T, et al. Among authors: yamamori s. Cancer Genet Cytogenet. 2005 Dec;163(2):130-7. doi: 10.1016/j.cancergencyto.2005.05.009. Cancer Genet Cytogenet. 2005. PMID: 16337855

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