Narumi S - Search Results

1

Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.

Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T. Amano N, et al. Among authors: narumi s. J Clin Endocrinol Metab. 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627. J Clin Endocrinol Metab. 2024. PMID: 37878959

2

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.

Uchida N, Mizuno Y, Seno S, Koyama Y, Takahashi T, Shibata H, Narumi S, Hasegawa T, Ishii T. Uchida N, et al. Among authors: narumi s. Clin Pediatr Endocrinol. 2023;32(1):79-81. doi: 10.1297/cpe.2022-0060. Epub 2022 Oct 7. Clin Pediatr Endocrinol. 2023. PMID: 36761495 Free PMC article. No abstract available.

3

A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability.

Saito K, Nakagawa R, Narumi S, Ohashi H, Ishiguro A, Kabe K. Saito K, et al. Among authors: narumi s. Neonatology. 2023;120(3):390-394. doi: 10.1159/000529762. Epub 2023 Apr 12. Neonatology. 2023. PMID: 37044079

4

Parathyroid adenoma with a somatic CASR pathogenic variant: A pediatric case report.

Kawata K, Sato T, Honda M, Narumi S, Kameyama K, Ishii T, Hasegawa T. Kawata K, et al. Among authors: narumi s. Pediatr Blood Cancer. 2023 Dec;70(12):e30687. doi: 10.1002/pbc.30687. Epub 2023 Sep 20. Pediatr Blood Cancer. 2023. PMID: 37728944 No abstract available.

5

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY.

Narita C, Takubo N, Sammori M, Matsumura Y, Shimura K, Ozaki R, Haruna H, Narumi S, Ishii T, Hasegawa T, Shimizu T. Narita C, et al. Among authors: narumi s. Clin Pediatr Endocrinol. 2023;32(4):235-238. doi: 10.1297/cpe.2023-0032. Epub 2023 Sep 8. Clin Pediatr Endocrinol. 2023. PMID: 37842143 Free PMC article.

6

Letter to the Editor regarding "Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis".

Sato T, Nakano S, Honda M, Narumi S, Ishii T, Hasegawa T. Sato T, et al. Among authors: narumi s. J Steroid Biochem Mol Biol. 2024 May;239:106484. doi: 10.1016/j.jsbmb.2024.106484. Epub 2024 Feb 16. J Steroid Biochem Mol Biol. 2024. PMID: 38367947 No abstract available.

7

Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects.

Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, Kawada Y, Mushimoto Y, Ohkubo K, Kinjo S, Shimura K, Aoyama K, Mizuno H, Hotsubo T, Takahashi C, Isojima T, Kina Y, Takakuwa S, Hamada J, Sawaki M, Shigehara K, Sugimoto S, Etani Y, Narumi-Wakayama H, Mine Y, Hasegawa T, Hishinuma A, Narumi S. Tanase-Nakao K, et al. Among authors: narumi s. J Clin Endocrinol Metab. 2024 Feb 19:dgae098. doi: 10.1210/clinem/dgae098. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38373250

8

Usefulness of a mobile airwayscope with a monitor in examination of the external genitalia of a 483 g female neonate.

Hiraizumi T, Sato T, Kobayashi H, Arimitsu T, Narumi S, Ishii T, Hasegawa T. Hiraizumi T, et al. Among authors: narumi s. Pediatr Int. 2024 Jan-Dec;66(1):e15759. doi: 10.1111/ped.15759. Pediatr Int. 2024. PMID: 38641938 No abstract available.

9

A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8.

Iwahashi-Odano M, Kitamura M, Narumi S. Iwahashi-Odano M, et al. Among authors: narumi s. Clin Pediatr Endocrinol. 2023;32(1):65-71. doi: 10.1297/cpe.2022-0061. Epub 2022 Nov 2. Clin Pediatr Endocrinol. 2023. PMID: 36761496 Free PMC article.

10

Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.

Hatano M, Tanase-Nakao K, Uehara E, Iwano R, Muroya K, Narumi S. Hatano M, et al. Among authors: narumi s. Clin Pediatr Endocrinol. 2024;33(2):94-100. doi: 10.1297/cpe.2023-0059. Epub 2024 Feb 29. Clin Pediatr Endocrinol. 2024. PMID: 38572382 Free PMC article.

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