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Sumito Dateki
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Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients.
Narusawa H, Ogawa T, Yagasaki H, Nagasaki K, Urakawa T, Saito T, Soneda S, Kinjo S, Sano S, Mamada M, Terashita S, Dateki S, Narumi S, Naiki Y, Horikawa R, Ogata T, Fukami M, Kagami M
J Clin Endocrinol Metab, dgae666, 26 Sep 2024
Cited by: 0 articles | PMID: 39324648
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Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.
Hashimoto K, Hayashida T, Otsubo Y, Niida Y, Dateki S
Cureus, 16(8):e67800, 26 Aug 2024
Cited by: 0 articles | PMID: 39323690 | PMCID: PMC11423392
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Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Saitou H, Kitaoka T, Kubota T, Kanno J, Mochizuki H, Michigami T, Hasegawa K, Fujiwara I, Hamajima T, Harada D, Seki Y, Nagasaki K, Dateki S, Namba N, Tokuoka H, Pimenta JM, Cohen S, Ozono K
Am J Med Genet A, 194(8):e63612, 30 Mar 2024
Cited by: 1 article | PMID: 38554024
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(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Urakawa T, Sano S, Kawashima S, Nakamura A, Shima H, Ohta M, Yamada Y, Nishida A, Narusawa H, Ohtsu Y, Matsubara K, Dateki S, Maruo Y, Fukami M, Ogata T, Kagami M
Eur J Endocrinol, 189(6):590-600, 01 Dec 2023
Cited by: 0 articles | PMID: 38039118
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Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Kido J, Häberle J, Tanaka T, Nagao M, Wada Y, Numakura C, Bo R, Nyuzuki H, Dateki S, Maruyama S, Murayama K, Yoshida S, Nakamura K
J Inherit Metab Dis, 08 Sep 2023
Cited by: 1 article | PMID: 37681292
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Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
Takasawa K, Mabe H, Nagamatsu F, Amano N, Miyakawa Y, Sutani A, Kagawa R, Okada S, Tanahashi Y, Suzuki S, Hiroshima S, Nagasaki K, Dateki S, Takishima S, Takahashi I, Kashimada K
Patient Prefer Adherence, 17:1885-1894, 01 Aug 2023
Cited by: 0 articles | PMID: 37545653 | PMCID: PMC10404042
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An Iron-chelating Agent Improved the Cardiac Function in a Patient with Severe Heart Failure Due to Hereditary Hemochromatosis.
Setoguchi A, Kawano H, Okano S, Honda T, Kato T, Dateki S, Senoo A, Nakashima Y, Motokawa T, Ueno Y, Akashi R, Yonekura T, Sueyoshi E, Ikeda S, Miyazaki Y, Maemura K
Intern Med, 63(2):253-258, 17 May 2023
Cited by: 0 articles | PMID: 37197964 | PMCID: PMC10864071
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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM, Genomics England Research Consortium, Smol T, Devisme L, Franquet H, [...] Halbritter J
Kidney Int, 101(5):1039-1053, 26 Feb 2022
Cited by: 8 articles | PMID: 35227688 | PMCID: PMC10010616
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[A CASE OF CONGENITAL UNILATERAL ABSENCE OF THE VAS DEFERENS WITH SUSPECTED IPSILATERAL RENAL AGENESIS].
Harada J, Kihara T, Kawada K, Gono S, Sagawa R, Kondo T, Yuno T, Shida Y, Hakariya T, Kosaka T, Dateki S, Miyata Y, Sakai H
Nihon Hinyokika Gakkai Zasshi, 112(3):154-158, 01 Jan 2021
Cited by: 0 articles | PMID: 35858812
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Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
Hashimoto N, Dateki S, Suzuki E, Tsuchihashi T, Isobe A, Banno S, Kageyama T, Maeda N, Hatabu N, Sato R, Miharu M, Fujita H, Komiyama O, Shimizu H, Hasegawa T, Yamazawa K
Hum Genome Var, 7:25, 14 Sep 2020
Cited by: 2 articles | PMID: 33014402 | PMCID: PMC7490419
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A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.
Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T
Endocr J, 67(11):1099-1105, 09 Jul 2020
Cited by: 3 articles | PMID: 32641618
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Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M, Japanese SHOX study group
J Pediatr Endocrinol Metab, 33(10):1335-1339, 31 Aug 2020
Cited by: 0 articles | PMID: 32866124
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Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism.
Kawamura H, Watanabe S, I T, Asahina I, Moriuchi H, Dateki S
J Pediatr Endocrinol Metab, 33(7):963-966, 01 Jul 2020
Cited by: 4 articles | PMID: 32649295
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KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).
Hamaguchi Y, Aoki M, Watanabe S, Mishima H, Yoshiura KI, Moriuchi H, Dateki S
Hum Genome Var, 6:54, 13 Dec 2019
Cited by: 0 articles | PMID: 31871732 | PMCID: PMC6911078
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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, [...] Matsumoto N
J Hum Genet, 64(12):1173-1186, 17 Sep 2019
Cited by: 33 articles | PMID: 31530938
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A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.
Dateki S, Watanabe S, Mishima H, Shirakawa T, Morikawa M, Kinoshita E, Yoshiura KI, Moriuchi H
J Hum Genet, 64(4):341-346, 28 Jan 2019
Cited by: 9 articles | PMID: 30692597
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Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.
Miyakawa Y, Takasawa K, Matsubara Y, Ihara K, Ohtsu Y, Kamasaki H, Kitsuda K, Kobayashi H, Satoh M, Sano S, Dateki S, Mochizuki H, Yokota I, Hasegawa Y, Kashimada K
Endocr J, 66(3):215-221, 23 Jan 2019
Cited by: 1 article | PMID: 30674755
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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.
Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura KI, Dateki S
J Hum Genet, 64(5):467-471, 22 Feb 2019
Cited by: 3 articles | PMID: 30796325
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Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.
Takasawa K, Tsuji-Hosokawa A, Takishima S, Wada Y, Nagasaki K, Dateki S, Numakura C, Hijikata A, Shirai T, Kashimada K, Morio T
J Diabetes, 11(1):46-54, 04 Jul 2018
Cited by: 9 articles | PMID: 29877041
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A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.
Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura KI, Moriuchi H, Dateki S
CEN Case Rep, 7(1):94-97, 09 Jan 2018
Cited by: 4 articles | PMID: 29318530 | PMCID: PMC5886933
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A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.
Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, Sawada H, Nishimura T, Nunoi H, Yoshiura KI, Moriuchi H, Dateki S
J Hum Genet, 63(3):387-390, 15 Jan 2018
Cited by: 19 articles | PMID: 29335451
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Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.
Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H
Hum Genome Var, 5:18014, 29 Mar 2018
Cited by: 8 articles | PMID: 29619239 | PMCID: PMC5874394
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ACAN mutations as a cause of familial short stature.
Dateki S
Clin Pediatr Endocrinol, 26(3):119-125, 27 Jul 2017
Cited by: 23 articles | PMID: 28804204 | PMCID: PMC5537209
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Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, [...] Fukami M
Endocr J, 64(10):947-954, 03 Aug 2017
Cited by: 30 articles | PMID: 28768959
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Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.
Koide N, Dateki S, Watanabe K, Moriuchi H
Pediatr Int, 59(9):1018-1020, 14 Jul 2017
Cited by: 1 article | PMID: 28707723
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1-25 of 49 results

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Search life-sciences literature (45,103,589 articles, preprints and more)

Suggested authors matching "AUTH:Dateki S" with an ORCID

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Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients.

Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.

Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.

(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.

An Iron-chelating Agent Improved the Cardiac Function in a Patient with Severe Heart Failure Due to Hereditary Hemochromatosis.

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

[A CASE OF CONGENITAL UNILATERAL ABSENCE OF THE VAS DEFERENS WITH SUSPECTED IPSILATERAL RENAL AGENESIS].

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.

Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism.

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.

ACAN mutations as a cause of familial short stature.

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.

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