Search Results - "Miura, Akinobu"

A case of 49,XXXYY followed-up from infancy to adulthood with review of literature by Kanno, Junko, Miura, Akinobu, Kawashima, Sayaka, Shima, Hirohito, Suzuki, Dai, Kamimura, Miki, Fujiwara, Ikuma, Kamimura, Masayuki, Uematsu, Mitsugu, Kudo, Masataka, Kikuchi, Atsuo

“…49,XXXYY is an extremely rare sex chromosomal aneuploidy (SCA), with only seven cases reported worldwide to date. Among these cases, only three have been…”
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Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report by Miura, Akinobu, Nakagawa, Tomohiro, Sogi, Chisumi, Shima, Hirohito, Adachi, Mika, Honkura, Yohei, Kikuchi, Atsuo, Kanno, Junko

“…SLC26A4 causes Pendred syndrome (PS) and nonsyndromic hearing loss. PS is distinguished based on perchlorate discharge test abnormality, goiter, and…”
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Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants by Totsune, Eriko, Nakano, Tomohiro, Moriya, Kunihiko, Sato, Daichi, Suzuki, Dai, Miura, Akinobu, Katayama, Saori, Niizuma, Hidetaka, Kanno, Junko, van Zelm, Menno C, Imai, Kohsuke, Kanegane, Hirokazu, Sasahara, Yoji, Kure, Shigeo

“…Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort…”
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Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion by Shima, Hirohito, Miura, Akinobu, Kawashima, Sayaka, Umeki, Ikumi, Sogi, Chisumi, Suzuki, Dai, Takezawa, Yusuke, Sato, Ryo, Arai-Ichinoi, Natsuko, Kamimura, Miki, Fujiwara, Ikuma, Adachi, Mika, Yamada, Aya, Kawame, Hiroshi, Kikuchi, Atsuo, Kanno, Junko

“…Solitary median maxillary central incisor (SMMCI) syndrome, the mildest form of the holoprosencephaly spectrum, is a rare anomaly characterized by the presence…”
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Abdominal ultrasound: liver, gallbladder, bile duct, spleen by Miura, Akinobu

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Gingival Pigmentation in a Boy by Nakagawa, Tomohiro, Wada, Yoichi, Miura, Akinobu, Numata-Uematsu, Yurika, Niizuma, Hidetaka, Kure, Shigeo

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A case of 49,XXXYY followed-up from infancy to adulthood with review of literature by Kanno, Junko, Miura, Akinobu, Kawashima, Sayaka, Shima, Hirohito, Suzuki, Dai, Kamimura, Miki, Fujiwara, Ikuma, Kamimura, Masayuki, Uematsu, Mitsugu, Kudo, Masataka, Kikuchi, Atsuo

“…49,XXXYY is an extremely rare sex chromosomal aneuploidy (SCA), with only seven cases reported worldwide to date. Among these cases, only three have been…”
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Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: a case report by Miura, Akinobu, Nakagawa, Tomohiro, Sogi, Chisumi, Shima, Hirohito, Adachi, Mika, Honkura, Yohei, Kikuchi, Atsuo, Kanno, Junko

“…SLC26A4 causes Pendred syndrome (PS) and nonsyndromic hearing loss. In some patients, PS is distinguished based on perchlorate discharge test abnormality,…”
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Gingival Pigmentation in a Boy by Nakagawa, Tomohiro, Wada, Yoichi, Miura, Akinobu, Numata-Uematsu, Yurika, Niizuma, Hidetaka, Kure, Shigeo

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Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants by Totsune, Eriko, Nakano, Tomohiro, Moriya, Kunihiko, Sato, Daichi, Suzuki, Dai, Miura, Akinobu, Katayama, Saori, Niizuma, Hidetaka, Kanno, Junko, van Zelm, Menno C, Imai, Kohsuke, Kanegane, Hirokazu, Sasahara, Yoji, Kure, Shigeo

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