The Experts below are selected from a list of 306 Experts worldwide ranked by ideXlab platform
Satoru Sakazume - One of the best experts on this subject based on the ideXlab platform.
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a case of baraitser winter syndrome with unusual brain mri findings pachygyria subcortical band heterotopia and periventricular heterotopia
Brain & Development, 2010Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
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A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
Brain & development, 2009Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
Takashi Shiihara - One of the best experts on this subject based on the ideXlab platform.
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a case of baraitser winter syndrome with unusual brain mri findings pachygyria subcortical band heterotopia and periventricular heterotopia
Brain & Development, 2010Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
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A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
Brain & development, 2009Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
Kenichi Maruyama - One of the best experts on this subject based on the ideXlab platform.
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a case of baraitser winter syndrome with unusual brain mri findings pachygyria subcortical band heterotopia and periventricular heterotopia
Brain & Development, 2010Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
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A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
Brain & development, 2009Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
Yoshiyuki Yamada - One of the best experts on this subject based on the ideXlab platform.
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a case of baraitser winter syndrome with unusual brain mri findings pachygyria subcortical band heterotopia and periventricular heterotopia
Brain & Development, 2010Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
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A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
Brain & development, 2009Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
Akira Nishimura - One of the best experts on this subject based on the ideXlab platform.
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a case of baraitser winter syndrome with unusual brain mri findings pachygyria subcortical band heterotopia and periventricular heterotopia
Brain & Development, 2010Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
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A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia
Brain & development, 2009Co-Authors: Takashi Shiihara, Kenichi Maruyama, Yoshiyuki Yamada, Akira Nishimura, Naomichi Matsumoto, Mitsuhiro Kato, Satoru SakazumeAbstract:Baraitser-Winter syndrome (BaWS) is characterized by Iris Coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
