Search Results - "Hiroshi, Suzumura"

Retropharyngeal emphysema in a newborn with inspiratory stridor by Miyamoto, Manabu, Suzumura, Hiroshi, Yoshihara, Shigemi

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Skin color change due to peripherally inserted central catheter leakage by Miyamoto, Manabu, Kuribayashi, Ryota, Suzumura, Hiroshi, Yoshihara, Shigemi

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Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy by Miyake, Noriko, Fukai, Ryoko, Ohba, Chihiro, Chihara, Takahiro, Miura, Masayuki, Shimizu, Hiroshi, Kakita, Akiyoshi, Imagawa, Eri, Shiina, Masaaki, Ogata, Kazuhiro, Okuno-Yuguchi, Jiu, Fueki, Noboru, Ogiso, Yoshifumi, Suzumura, Hiroshi, Watabe, Yoshiyuki, Imataka, George, Leong, Huey Yin, Fattal-Valevski, Aviva, Kramer, Uri, Miyatake, Satoko, Kato, Mitsuhiro, Okamoto, Nobuhiko, Sato, Yoshinori, Mitsuhashi, Satomi, Nishino, Ichizo, Kaneko, Naofumi, Nishiyama, Akira, Tamura, Tomohiko, Mizuguchi, Takeshi, Nakashima, Mitsuko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi

“…We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with…”
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SATB2‐associated syndrome in patients from Japan: Linguistic profiles by Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Yoshihashi, Hiroshi, Suzumura, Hiroshi, Mizuno, Seiji, Kosaki, Kenjiro

“…Cleft palate can be classified as either syndromic or nonsyndromic. SATB2‐associated syndrome is one example of a syndromic cleft palate that is accompanied by…”
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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2) by Yamoto, Kaori, Saitsu, Hirotomo, Nishimura, Gen, Kosaki, Rika, Takayama, Shinichiro, Haga, Nobuhiko, Tonoki, Hidefumi, Okumura, Akihisa, Horii, Emiko, Okamoto, Nobuhiko, Suzumura, Hiroshi, Ikegawa, Shiro, Kato, Fumiko, Fujisawa, Yasuko, Nagata, Eiko, Takada, Shuji, Fukami, Maki, Ogata, Tsutomu

“…Split-hand/foot malformation (SHFM) is a clinically and genetically heterogeneous condition. We sequentially performed screening of the previously identified…”
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Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review by Naganuma, Junko, Suzumura, Hiroshi, Koyama, Satomi, Yaginuma, Miho, Fujita, Yuji, Watabe, Yoshiyuki, Imataka, George, Matsubara, Keiko, Kagami, Masayo, Yoshihara, Shigemi

“…Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to parathyroid…”
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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients by Inoue, Takanobu, Nakamura, Akie, Iwahashi-Odano, Megumi, Tanase-Nakao, Kanako, Matsubara, Keiko, Nishioka, Junko, Maruo, Yoshihiro, Hasegawa, Yukihiro, Suzumura, Hiroshi, Sato, Seiji, Kobayashi, Yoshiyuki, Murakami, Nobuyuki, Nakabayashi, Kazuhiko, Yamazawa, Kazuki, Fuke, Tomoko, Narumi, Satoshi, Oka, Akira, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

“…Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features. Major (epi)genetic causes of SRS are loss of methylation on…”
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IGF2 Mutations by Masunaga, Yohei, Inoue, Takanobu, Yamoto, Kaori, Fujisawa, Yasuko, Sato, Yasuhiro, Kawashima-Sonoyama, Yuki, Morisada, Naoya, Iijima, Kazumoto, Ohata, Yasuhisa, Namba, Noriyuki, Suzumura, Hiroshi, Kuribayashi, Ryota, Yamaguchi, Yu, Yoshihashi, Hiroshi, Fukami, Maki, Saitsu, Hirotomo, Kagami, Masayo, Ogata, Tsutomu

“…Abstract Objective IGF2 is a paternally expressed growth-promoting gene. Here, we report five cases with IGF2 mutations and review IGF2 mutation-positive…”
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Fetal Bone Formation Is Decreased from Middle Pregnancy to Birth by Nitta, Akihisa, Suzumura, Hiroshi, Arisaka, Osamu, Miura, Toshihide, Igarashi, Yoshihiko

“…Fetal bone development is a complex process that is regulated and maintained by minerals, hormones, and growth factors delivered from the mother via the…”
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Pseudohypoparathyroidism type 1B with involuntary movements : a case report and literature review by Junko Naganuma, Hiroshi Suzumura, Satomi Koyama, Miho Yaginuma, Yuji Fujita, Yoshiyuki Watabe, George Imataka, Keiko Matsubara, Masayo Kagami, Shigemi Yoshihara

“…[Abstract.] Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to…”
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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations by Yamada, Yasukazu, Nomura, Noriko, Yamada, Kenichiro, Matsuo, Mari, Suzuki, Yuka, Sameshima, Kiyoko, Kimura, Reiko, Yamamoto, Yuto, Fukushi, Daisuke, Fukuhara, Yayoi, Ishihara, Naoko, Nishi, Eriko, Imataka, George, Suzumura, Hiroshi, Hamano, Shin-Ichiro, Shimizu, Kenji, Iwakoshi, Mie, Ohama, Kazunori, Ohta, Akira, Wakamoto, Hiroyuki, Kajita, Mitsuharu, Miura, Kiyokuni, Yokochi, Kenji, Kosaki, Kenjiro, Kuroda, Tatsuo, Kosaki, Rika, Hiraki, Yoko, Saito, Kayoko, Mizuno, Seiji, Kurosawa, Kenji, Okamoto, Nobuhiko, Wakamatsu, Nobuaki

“…Mowat–Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial…”
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Efficacy and safety of cardioversion with continuous landiolol infusion for atrial tachyarrhythmia in an inflammatory state caused by volvulus in a child with TARP syndrome and postoperative tetralogy of Fallot by Miyamoto, Kenji, Ishii, Junpei, Fukuda, Hironobu, Ariga, Shinichiro, Suzumura, Hiroshi, Kurosawa, Hidemitsu, Kamijima, Toru, Yamaguchi, Takeshi, Ogino, Megumi, Tsuchioka, Takashi, Yoshihara, Shigemi

“…A 2‐year‐old boy was diagnosed with TARP syndrome and underwent surgery for tetralogy of Fallot. He developed fever and had an acute abdomen. After 12 hours,…”
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Safety of lipid emulsion in very low-birthweight infants according to cytokine level by Ichikawa, Junko, Ichikawa, Go, Tsuboi, Yayoi, Kuribayashi, Ryota, Watabe, Yoshiyuki, Sairenchi, Toshimi, Suzumura, Hiroshi, Arisaka, Osamu

“…Background The aim of this study was to verify whether lipid emulsion treatment aggravates infection and inflammation in very low‐birthweight (VLBW) infants…”
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Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum by Watanabe, Shun, Matsudera, Shotaro, Yamaguchi, Takeshi, Tani, Yukiko, Ogino, Kei, Nakajima, Masanobu, Yamaguchi, Satoru, Sasaki, Kinro, Suzumura, Hiroshi, Tsuchioka, Takashi

“…Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer…”
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Assessment of contractility and myocardial function in small and appropriate for gestational age premature neonates using the stress-velocity relationship and tissue Doppler imaging immediately after birth by Miyamoto, Kenji, Tsuboi, Tatsuo, Kokubu, Ayaka, Suzumura, Hiroshi, Arisaka, Osamu

“…Our aim was to determine whether small for gestational age (SGA) neonates exhibit reduced left ventricular contractility and diastolic dysfunction, through the…”
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Thyroxine for transient hypothyroxinemia and cerebral palsy in extremely preterm infants by Suzumura, Hiroshi, Nitta, Akihisa, Tsuboi, Yayoi, Watabe, Yoshiyuki, Kuribayashi, Ryouta, Arisaka, Osamu

“…Background:  The relationship of thyroxine supplementation for transient hypothyroxinemia of prematurity to the incidence of cerebral palsy (CP) in infants <28…”
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MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus by Kuwashima, Shigeko, Kitajima, Kazuhiro, Kaji, Yasushi, Watanabe, Hiroshi, Watabe, Yoshiyuki, Suzumura, Hiroshi

“…Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this…”
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Fetal Hemophagocytic Lymphohistiocytosis in a Premature Infant by Nitta, Akihisa, MD, Suzumura, Hiroshi, MD, PhD, Watabe, Yoshiyuki, MD, PhD, Okuya, Mayuko, MD, PhD, Nakajima, Daisuke, MD, PhD, Kurosawa, Hidemitsu, MD, PhD, Sugita, Kenichi, MD, PhD, Arisaka, Osamu, MD, PhD

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Congenital cystic periventricular leukomalacia in a small‐for‐gestational age full‐term infant by Nitta, Akihisa, Suzumura, Hiroshi, Kano, Kenichi, Arisaka, Osamu

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An analysis of epilepsy with chromosomal abnormalities by Yamanouchi, Hideo, Imataka, George, Nakagawa, Eiji, Nitta, Akihisa, Suzuki, Naomitsu, Hirano, Jun-ichi, Suzumura, Hiroshi, Watanabe, Hiroshi, Arisaka, Osamu, Eguchi, Mitsuoki

“…We retrospectively reviewed the medical records of neonates with chromosomal abnormalities and epilepsy who had been admitted to the neonatal intensive care…”
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