Search Results - "Sugio, Yoshitsugu"

A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12 by Murakami, Hiroaki, Enomoto, Yumi, Tsurusaki, Yoshinori, Sugio, Yoshitsugu, Kurosawa, Kenji

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CTCF deletion syndrome: clinical features and epigenetic delineation by Hori, Ikumi, Kawamura, Rie, Nakabayashi, Kazuhiko, Watanabe, Hidetaka, Higashimoto, Ken, Tomikawa, Junko, Ieda, Daisuke, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Sugio, Yoshitsugu, Wakui, Keiko, Hata, Kenichiro, Soejima, Hidenobu, Kurosawa, Kenji, Saitoh, Shinji

“…Heterozygous mutations in have been reported in patients with distinct clinical features including intellectual disability. However, the precise pathomechanism…”
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New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation by Tsukahara, M, Sugio, Y

“…We report on three brothers, aged 6, 3, and 2 years, with a hitherto undescribed combination of microcephaly, facial abnormalities, micromelia, and mild mental…”
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Patent ductus venosus in children: a case report and review of the literature by Yoshimoto, Yasunori, Shimizu, Ryoichi, Saeki, Toshihiro, Harada, Toshio, Sugio, Yoshitsugu, Nomura, Sayaka, Tanaka, Hiroko

“…A 10-year-old girl with a patent ductus venosus associated with multiple autoimmune disorders presented with hypoxia, cyanosis of her lips, and exertional…”
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Cytokine levels in sputum of patients with tracheostomy and profound multiple disabilities by Asada, Kazutoyo, Ichiyama, Takashi, Okuda, Yumi, Okino, Fumiko, Hashimoto, Kunio, Nishikawa, Miki, Sugio, Yoshitsugu, Furukawa, Susumu

“…Background. Airway immunopathogenesis is unclear in patients with profound multiple disabilities (PMD) who undergo tracheostomy. Methods. The levels of tumor…”
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Ruvalcaba syndrome: autosomal dominant inheritance by Sugio, Y, Kajii, T

“…A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval…”
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Reversed Intrapulmonary Right-to-Left Shunt After Banding of the Patent Ductus Venosus by Suga, Kazuyoshi, Ogasawara, Nobuhiko, Matsunaga, Naofumi, Sugio, Yoshitsugu, Shimizu, Ryouichi

“…Diffuse pulmonary microvascular arteriovenous communication developed in an 8-year-old girl with a patent ductus venosus. Tc-99m macroaggregated albumin (MAA)…”
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Diffuse pulmonary arteriovenous fistulae secondary to patent ductus venosus by SUGIO, Yoshitsugu, SHIMIZU, Ryoichi, TANAKA, Hiroko, KONDOH, Osamu, SUGIO, Yoko, TSUKAHARA, Masato

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Two Japanese cases with microcephalic primordial dwarfism: Classical seckel syndrome and osteodysplastic primordial dwarfism type II by Sugio, Y, Tsukahara, M, Kajii, T

“…A male infant with "classical" Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel…”
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No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients by Kobayashi, Shin, Uemura, Hiraku, Kohda, Takashi, Nagai, Toshiro, Chinen, Yasutsugu, Naritomi, Kenji, Kinoshita, Ei-ichi, Ohashi, Hirofumi, Imaizumi, Kiyoshi, Tsukahara, Masato, Sugio, Yoshitsugu, Tonoki, Hidefumi, Kishino, Tatsuya, Tanaka, Toshiaki, Yamada, Masao, Tsutsumi, Osamu, Niikawa, Norio, Kaneko-Ishino, Tomoko, Ishino, Fumitoshi

“…Silver‐Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been…”
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Family study of common fragile sites by SUGIO, Y, KUROKI, Y

“…The frequency of folate-sensitive common fragile sites (1p31, 1q44, 3p14, 3q26.2, 6q26, 16q23, Xp22.3) was determined in 19 healthy individuals from four…”
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Two unrelated cases of single maxillary central incisor with 7q terminal deletion by Masuno, M, Fukushima, Y, Sugio, Y, Ikeda, M, Kuroki, Y

“…Two unrelated cases of single maxillary central incisor (SM-CI) with 7q terminal deletion of the same breakpoint at 7q36.1 were described. They had mental…”
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Partial distal 12q trisomy with arachnoid cyst by Masuno, M, Fukushima, Y, Sugio, Y, Kuroki, Y

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Common fragile sites induced by folate deprivation, BrdU and aphidicolin: Their frequency and distribution in Japanese individuals by Kuwano, A, Sugio, Y, Murano, I, Kajii, T

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Spondylocostal dysostosis: Report of three patients by Ohashi, H, Sugio, Y, Kajii, T

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Diffuse pulmonary arteriovenous fistulae secondary to patent ductus venosus by Sugio, Yoshitsugu, Shimizu, Ryoichi, Tanaka, Hiroko, Kondoh, Osamu, Sugio, Yoko, Tsukahara, Masato

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Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease by Sugio, Yoshitsugu, Sugio, Yoko, Kuwano, Akira, Miyoshi, Osamu, Yamada, Kohki, Niikawa, Norio, Tsukahara, Masato

“…A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later…”
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No evidence ofPEG1/MEST gene mutations in Silver-Russell syndrome patients by Kobayashi, Shin, Uemura, Hiraku, Kohda, Takashi, Nagai, Toshiro, Chinen, Yasutsugu, Naritomi, Kenji, Kinoshita, Ei-ichi, Ohashi, Hirofumi, Imaizumi, Kiyoshi, Tsukahara, Masato, Sugio, Yoshitsugu, Tonoki, Hidefumi, Kishino, Tatsuya, Tanaka, Toshiaki, Yamada, Masao, Tsutsumi, Osamu, Niikawa, Norio, Kaneko-Ishino, Tomoko, Ishino, Fumitoshi

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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients by Niikawa, N, Kuroki, Y, Kajii, T, Matsuura, N, Ishikiriyama, S, Tonoki, H, Ishikawa, N, Yamada, Y, Fujita, M, Umemoto, H

“…These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a collaborative study among 33 institutions and analyzed clinically,…”
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Median nodule of the upper lip: an autosomal dominant trait by Tsukahara, M, Fernandez, I, Sugio, Y, Shiota, K

“…We describe a total of 18 individuals, in 3 families, with a median nodule of the upper lip. In family 1, the proposita, an 8-month-old infant girl, was…”
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