Adachi M - Search Results

1

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: adachi m. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967

2

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.

Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y. Masuno M, et al. Among authors: adachi m. Am J Med Genet. 1999 May 7;84(1):8-11. doi: 10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10213038

3

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.

Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T. Adachi M, et al. Hum Genet. 2000 Mar;106(3):306-10. doi: 10.1007/s004390051042. Hum Genet. 2000. PMID: 10798359

4

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.

Matsuo M, Muroya K, Adachi M, Tachibana K, Asakura Y, Nakagomi Y, Hanaki K, Yokoya S, Yoshizawa A, Igarashi Y, Hanew K, Matsuo N, Ogata T. Matsuo M, et al. Among authors: adachi m. Hum Genet. 2000 Nov;107(5):433-9. doi: 10.1007/s004390000377. Hum Genet. 2000. PMID: 11140940

5

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.

Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T. Homma K, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2006 Jul;91(7):2643-9. doi: 10.1210/jc.2005-2460. Epub 2006 Apr 11. J Clin Endocrinol Metab. 2006. PMID: 16608896

6

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. Dateki S, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2008 Oct;93(10):3697-702. doi: 10.1210/jc.2008-0720. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628516

7

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.

Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T. Narumi S, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2009 Apr;94(4):1317-23. doi: 10.1210/jc.2008-1767. Epub 2009 Jan 21. J Clin Endocrinol Metab. 2009. PMID: 19158199

8

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.

Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, Chiyo H, Kurosawa K. Yamamoto K, et al. Among authors: adachi m. Congenit Anom (Kyoto). 2009 Mar;49(1):8-14. doi: 10.1111/j.1741-4520.2008.00212.x. Congenit Anom (Kyoto). 2009. PMID: 19243411

9

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T. Fukami M, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2009 May;94(5):1723-31. doi: 10.1210/jc.2008-2816. Epub 2009 Mar 3. J Clin Endocrinol Metab. 2009. PMID: 19258400

10

Unfavorable lipoprotein profile in childhood cancer survivors with suprasellar brain tumors--a high Apo B level and increased small dense LDL-cholesterol.

Adachi M, Muroya K, Asakura Y. Adachi M, et al. Childs Nerv Syst. 2009 Jun;25(6):669-75. doi: 10.1007/s00381-009-0837-3. Epub 2009 Mar 5. Childs Nerv Syst. 2009. PMID: 19263058

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