Annals of Pediatric Endocrinology & Metabolism

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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

Yong Suk Shim, Woohyeok Choi, Il Tae Hwang, Seung Yang

Ann Pediatr Endocrinol Metab. 2015;20(1):59-63. Published online March 31, 2015
DOI: https://doi.org/10.6065/apem.2015.20.1.59

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with aGATA3mutation

Yong Suk Shim, Woohyeok Choi, Il Tae Hwang, Seung Yang

Annals of Pediatric Endocrinology & Metabolism. 2015;20(1):59

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HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated toGATA3gene duplication

Clinical Genetics. 2009;76(1):117-119

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GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome

Zi-Yang Zhu, Qiao-Li Zhou, Shi-Ning Ni, Wei Gu

World Journal of Pediatrics. 2014;10(3):278-280

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A Novel GATA3 Variant Causing Familial Hypoparathyroidism, Renal Agenesis and Sensorineural Deafness Presenting With Atypical Symptoms of Chronic Hypocalcaemia

Smriti Gaur, Suzanne Page, Mansoor Khizer, Shoib Rehman

Journal of the Endocrine Society. 2021;5(Supplement_1):A176-A177

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Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia

Anne Gandolfi, Kevin Ratnasamy, Carla Minutti

JCEM Case Reports. 2022;1(1):

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Hypoparathyroidism, Deafness, and Renal Anomaly Syndrome

M. Andrew Nesbit

Hypoparathyroidism. 2015;199-213

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Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

Anne D. D. Joseph, Nirmala D. Sirisena, Thirunavukarasu Kumanan, Vathualan Sujanitha, Veronika Strelow, Raina Yamamoto, Stefan Wieczorek, Vajira H. W. Dissanayake

BMC Endocrine Disorders. 2019;19(1):

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A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome

Tetsuji Okawa, Masanori Yoshida, Takeshi Usui, Takahiro Kudou, Yasumasa Iwasaki, Kazuki Fukuoka, Norio Takahashi, Yuka Uehara, Yutaka Oiso

BMC Endocrine Disorders. 2015;15(1):

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Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response

Makoto Kita, Yasuhiro Kuwata, Takeshi Usui

Auris Nasus Larynx. 2019;46(5):808-812

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A Novel Gata3 Nonsense Mutation In A Newly Diagnosed Adult Patient Of Hypoparathyroidism, Deafness, And Renal Dysplasia (Hdr) Syndrome

Kazutaka Nanba, Takeshi Usui, Michikazu Nakamura, Yuko Toyota, Keisho Hirota, Tamiko Tamanaha, Kawashima Sachiko-Tsukamoto, Kanako Nakao, Akiko Yuno, Tetsuya Tagami, Mitsuhide Naruse, Akira Shimatsu

Endocrine Practice. 2013;19(1):e17-e20

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