Search Results - "Enomoto, Yumi"

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT by Murakami, Hiroaki, Tamura, Norito, Enomoto, Yumi, Shimasaki, Kentaro, Kurosawa, Kenji, Hanada, Kentaro

“…Intellectual disability (ID) is a developmental disorder that includes both intellectual and adaptive functioning deficits in conceptual, social, and practical…”
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Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay by Kumaki, Tatsuro, Enomoto, Yumi, Aida, Noriko, Goto, Tomohide, Kurosawa, Kenji

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Further delineation of SET‐related intellectual disability syndrome by Shono, Kenta, Enomoto, Yumi, Tsurusaki, Yoshinori, Kumaki, Tatsuro, Masuno, Mitsuo, Kurosawa, Kenji

“…A loss‐of‐function mutation of SET causes nonsyndromic intellectual disability, often associated with mild facial dysmorphic features, including plagiocephaly,…”
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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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A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia by Kuroda, Yukiko, Murakami, Hiroaki, Enomoto, Yumi, Tsurusaki, Yoshinori, Takahashi, Kazumi, Mitsuzuka, Kanako, Ishimoto, Hitoshi, Nishimura, Gen, Kurosawa, Kenji

“…Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive…”
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Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15 by Murakami, Hiroaki, Uehara, Tomoko, Tsurusaki, Yoshinori, Enomoto, Yumi, Kuroda, Yukiko, Aida, Noriko, Kosaki, Kenjiro, Kurosawa, Kenji

“…Atypical phenotype of an imprinting disease can develop with a recessive homozygous variant due to uniparental isodisomy. We present a girl with severe…”
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Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism by Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji

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P218: Case report: PHACE-like syndrome with TMEM260 compound heterozygous variants by Kuroda, Yukiko, Enomoto, Yumi, Saito, Yoko, Kurosawa, Kenji

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Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy by Yokoi, Takayuki, Sei, Kenshi, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji

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Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9 by Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji

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Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon by Kuroda, Yukiko, Murakami, Hiroaki, Yokoi, Takayuki, Kumaki, Tatsuro, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji

“…PPM1D truncating mutations in the last and penultimate exons of the gene have been associated with intellectual disability (ID) syndrome. Only 15 affected…”
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Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan by Ikeda, Azusa, Kumaki, Tatsuro, Tsuyusaki, Yu, Tsuji, Megumi, Enomoto, Yumi, Fujita, Atsushi, Saitsu, Hirotomo, Matsumoto, Naomichi, Kurosawa, Kenji, Goto, Tomohide

“…Hereditary spastic paraplegias (HSPs) are a set of heterogeneous neurodegenerative disorders characterized by bilateral lower limb spasticity. They may present…”
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Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder by Yokoi, Takayuki, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji, Higurashi, Norimichi

“…Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal…”
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Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome by Akahira-Azuma, Moe, Tsurusaki, Yoshinori, Enomoto, Yumi, Mitsui, Jun, Kurosawa, Kenji

“…We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1 , c.593A>G, that is causative of Okur–Chung neurodevelopmental…”
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Expanding the phenotype of COL4A1-related disorders—Four novel variants by Nishimura, Naoto, Kumaki, Tatsuro, Murakami, Hiroaki, Enomoto, Yumi, Tsurusaki, Yoshinori, Tsuji, Megumi, Tsuyusaki, Yu, Goto, Tomohide, Aida, Noriko, Kurosawa, Kenji

“…COL4A1 variant causes severe central nervous system (CNS) anomalies, including hydranencephaly. However, the pathogenic mechanism underlying the COL4A1…”
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Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis by Enomoto, Yumi, Tsurusaki, Yoshinori, Harada, Noriaki, Aida, Noriko, Kurosawa, Kenji

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P287: Wilms tumor in a patient with FBXW7-related neurodevelopmental syndrome by Saito, Yoko, Kuroda, Yukiko, Keino, Dai, Enomoto, Yumi, Naruto, Takuya, Yanagimachi, Masakatsu, Kurosawa, Kenji

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Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita by Akahira-Azuma, Moe, Enomoto, Yumi, Nakamura, Naoyuki, Yokoi, Takayuki, Minatogawa, Mari, Harada, Noriaki, Tsurusaki, Yoshinori, Kurosawa, Kenji

“…Spondyloepiphyseal dysplasia congenita (SEDC) is a multisystemic skeletal disorder caused by pathogenic variants in COL2A1 . Here, we report the…”
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A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2 by Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji

“…Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies,…”
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A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing by Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji

“…We report a Japanese girl with mild xeroderma pigmentosum group D neurological disease. She had short stature, cataracts, intellectual disability, and mild…”
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