Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 12, pp. 1182 - 1195
Summary Background Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian...
Neurology | MPPH SYNDROME | HUMAN BRAIN | MALFORMATIONS | MENTAL-RETARDATION | HYDROCEPHALUS MPPH | FREQUENCY | MOLECULAR INVERSION PROBES | RECURRENCE RISK | CORTICAL DEVELOPMENT | SOMATIC MUTATIONS | CLINICAL NEUROLOGY | Phosphatidylinositol 3-Kinases - genetics | Young Adult | DNA Mutational Analysis | Humans | Adolescent | Child, Preschool | Infant | Malformations of Cortical Development - genetics | Mutation | Child | Abnormalities, Multiple - genetics | Intellectual Disability - genetics | Genetic disorders | Developmental biology | Epilepsy | Genomics | Medical genetics | Genetic research | Genetic aspects | Neurophysiology | Medical imaging | Brain research | Review boards | Genetic testing | Patients | Age | Deoxyribonucleic acid--DNA | Methods | Children & youth | polymicrogyria | MPPH syndrome | PIK3R2 | megalencephaly | mosaicism
Neurology | MPPH SYNDROME | HUMAN BRAIN | MALFORMATIONS | MENTAL-RETARDATION | HYDROCEPHALUS MPPH | FREQUENCY | MOLECULAR INVERSION PROBES | RECURRENCE RISK | CORTICAL DEVELOPMENT | SOMATIC MUTATIONS | CLINICAL NEUROLOGY | Phosphatidylinositol 3-Kinases - genetics | Young Adult | DNA Mutational Analysis | Humans | Adolescent | Child, Preschool | Infant | Malformations of Cortical Development - genetics | Mutation | Child | Abnormalities, Multiple - genetics | Intellectual Disability - genetics | Genetic disorders | Developmental biology | Epilepsy | Genomics | Medical genetics | Genetic research | Genetic aspects | Neurophysiology | Medical imaging | Brain research | Review boards | Genetic testing | Patients | Age | Deoxyribonucleic acid--DNA | Methods | Children & youth | polymicrogyria | MPPH syndrome | PIK3R2 | megalencephaly | mosaicism
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders...
GENE-MUTATIONS | MACROCEPHALY-CAPILLARY MALFORMATION | GLUCOSE-HOMEOSTASIS | ACTIVATING MUTATION | INSULIN-RESISTANCE | CORPUS-CALLOSUM | GENETICS & HEREDITY | CUTIS MARMORATA | HIGH-FREQUENCY | KINASE-B-GAMMA | COWDEN-DISEASE | Megalencephaly - genetics | Megalencephaly - pathology | Humans | Hydrocephalus - pathology | Malformations of Cortical Development - enzymology | Malformations of Cortical Development - genetics | Mutation, Missense | Proto-Oncogene Proteins c-akt - genetics | Syndrome | Exome | Phosphatidylinositol 3-Kinases - genetics | Class I Phosphatidylinositol 3-Kinases | Germ-Line Mutation | Mutation | Hydrocephalus - enzymology | Hydrocephalus - genetics | Malformations of Cortical Development - pathology | Megalencephaly - enzymology | Brain | Gene mutations | Abnormalities | Physiological aspects | Genetic aspects | Research | Health aspects | Protein kinases | Risk factors | Medical research | Enzymes | Womens health | Genomes | Kinases | Experiments | Siblings
GENE-MUTATIONS | MACROCEPHALY-CAPILLARY MALFORMATION | GLUCOSE-HOMEOSTASIS | ACTIVATING MUTATION | INSULIN-RESISTANCE | CORPUS-CALLOSUM | GENETICS & HEREDITY | CUTIS MARMORATA | HIGH-FREQUENCY | KINASE-B-GAMMA | COWDEN-DISEASE | Megalencephaly - genetics | Megalencephaly - pathology | Humans | Hydrocephalus - pathology | Malformations of Cortical Development - enzymology | Malformations of Cortical Development - genetics | Mutation, Missense | Proto-Oncogene Proteins c-akt - genetics | Syndrome | Exome | Phosphatidylinositol 3-Kinases - genetics | Class I Phosphatidylinositol 3-Kinases | Germ-Line Mutation | Mutation | Hydrocephalus - enzymology | Hydrocephalus - genetics | Malformations of Cortical Development - pathology | Megalencephaly - enzymology | Brain | Gene mutations | Abnormalities | Physiological aspects | Genetic aspects | Research | Health aspects | Protein kinases | Risk factors | Medical research | Enzymes | Womens health | Genomes | Kinases | Experiments | Siblings
Journal Article
3.
Full Text
Megalencephaly Syndromes and Activating Mutations in the PI3K‐AKT Pathway: MPPH and MCAP
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 05/2013, Volume 163, Issue 2, pp. 122 - 130
The megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) and megalencephaly‐capillary malformation (MCAP) syndromes are highly recognizable and...
polymicrogyria | PIK3CA | capillary malformations | overgrowth | mosaicism | PI3K‐AKT pathway | AKT3 | megalencephaly | PIK3R2 | Capillary malformations | Megalencephaly | Polymicrogyria | Mosaicism | Overgrowth | PI3K-AKT pathway | MACROCEPHALY-CAPILLARY MALFORMATION | PERISYLVIAN POLYMICROGYRIA | HYDROCEPHALUS MPPH | CUTIS-MARMORATA | GENETICS & HEREDITY | KINASE-B-GAMMA | BRAIN | MARMORATA-TELANGIECTATICA-CONGENITA | Megalencephaly - genetics | Phosphatidylinositol 3-Kinases - metabolism | Mutation | Proto-Oncogene Proteins c-akt - metabolism | Humans | Syndrome | Genetic research | Genetic aspects | Genetic disorders | Gene mutations | AKT protein
polymicrogyria | PIK3CA | capillary malformations | overgrowth | mosaicism | PI3K‐AKT pathway | AKT3 | megalencephaly | PIK3R2 | Capillary malformations | Megalencephaly | Polymicrogyria | Mosaicism | Overgrowth | PI3K-AKT pathway | MACROCEPHALY-CAPILLARY MALFORMATION | PERISYLVIAN POLYMICROGYRIA | HYDROCEPHALUS MPPH | CUTIS-MARMORATA | GENETICS & HEREDITY | KINASE-B-GAMMA | BRAIN | MARMORATA-TELANGIECTATICA-CONGENITA | Megalencephaly - genetics | Phosphatidylinositol 3-Kinases - metabolism | Mutation | Proto-Oncogene Proteins c-akt - metabolism | Humans | Syndrome | Genetic research | Genetic aspects | Genetic disorders | Gene mutations | AKT protein
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 117 - 123
This issue of the American Journal of Medical Genetics Seminar Series Part C is dedicated to congenital brain malformations with a special focus on the...
brain malformations | review | genetics | Brain malformations | Genetics | Review | MENTAL-RETARDATION | CONFIRMATION | PHENOTYPE | MODEL | HETEROTOPIA | DISEASE | GENETICS & HEREDITY | HYPOPLASIA | DISORDER | LIS1 | MUTATIONS | Animals | Brain - abnormalities | Nervous System Malformations - genetics | Humans | Genetic disorders | Medical genetics
brain malformations | review | genetics | Brain malformations | Genetics | Review | MENTAL-RETARDATION | CONFIRMATION | PHENOTYPE | MODEL | HETEROTOPIA | DISEASE | GENETICS & HEREDITY | HYPOPLASIA | DISORDER | LIS1 | MUTATIONS | Animals | Brain - abnormalities | Nervous System Malformations - genetics | Humans | Genetic disorders | Medical genetics
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1226 - 1237
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected...
Marshall‐Smith syndrome | phenotype | NFIX | Sotos syndrome | Malan syndrome | Weaver syndrome | phenotype‐genotype | phenotype-genotype | Marshall-Smith syndrome | SOTOS-LIKE OVERGROWTH | CACNA1A | DNA-BINDING/DIMERIZATION DOMAIN | 19P13.13 | DELETION | INTELLECTUAL DISABILITY | GENETICS & HEREDITY | MESSENGER-RNA DECAY | NFIX MUTATIONS | Gene mutations | Epilepsy | Codon | Body height | Phenotypes | Stop codon | Anxiety | Children | Genotypes | Life Sciences
Marshall‐Smith syndrome | phenotype | NFIX | Sotos syndrome | Malan syndrome | Weaver syndrome | phenotype‐genotype | phenotype-genotype | Marshall-Smith syndrome | SOTOS-LIKE OVERGROWTH | CACNA1A | DNA-BINDING/DIMERIZATION DOMAIN | 19P13.13 | DELETION | INTELLECTUAL DISABILITY | GENETICS & HEREDITY | MESSENGER-RNA DECAY | NFIX MUTATIONS | Gene mutations | Epilepsy | Codon | Body height | Phenotypes | Stop codon | Anxiety | Children | Genotypes | Life Sciences
Journal Article
6.
Full Text
VarSight: prioritizing clinically reported variants with binary classification algorithms
BMC BIOINFORMATICS, ISSN 1471-2105, 10/2019, Volume 20, Issue 1, pp. 1 - 10
Background When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the...
GUIDELINES | BIOCHEMICAL RESEARCH METHODS | PHENOTYPE | STANDARDS | MEDICAL GENETICS | IDENTIFICATION | RECOMMENDATION | DISCOVERY | PREDICTION | Variant prioritization | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Clinical genome sequencing | ASSOCIATION | Binary classification | DIAGNOSTICS
GUIDELINES | BIOCHEMICAL RESEARCH METHODS | PHENOTYPE | STANDARDS | MEDICAL GENETICS | IDENTIFICATION | RECOMMENDATION | DISCOVERY | PREDICTION | Variant prioritization | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Clinical genome sequencing | ASSOCIATION | Binary classification | DIAGNOSTICS
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2301 - 2308
PIK3CA‐related overgrowth spectrum (PROS) refers to a group of disorders of segmental overgrowth of a wide variety of tissues as well as venous and lymphatic...
ddPCR | vascular malformation | PIK3CA | overgrowth | mosaicism | DIAGNOSIS | AKT3 | GENETICS & HEREDITY | DISORDERS | SPECTRUM PROS | MUTATIONS | Polymerase chain reaction | Brain | Nervous system diseases | Analysis | Injuries | Next-generation sequencing | Sirolimus | Ischemia | Autopsy | Sepsis | Mosaicism | Diagnosis | Mutation | Brain injury
ddPCR | vascular malformation | PIK3CA | overgrowth | mosaicism | DIAGNOSIS | AKT3 | GENETICS & HEREDITY | DISORDERS | SPECTRUM PROS | MUTATIONS | Polymerase chain reaction | Brain | Nervous system diseases | Analysis | Injuries | Next-generation sequencing | Sirolimus | Ischemia | Autopsy | Sepsis | Mosaicism | Diagnosis | Mutation | Brain injury
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 752 - 768
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly...
haploinsufficiency | macrocephaly | NFIB | nuclear factor I | developmental delay | chromosome 9p22.3 | megalencephaly | chromosome 9p23 | agenesis of the corpus callosum | intellectual disability | GENETIC-VARIATION | MARSHALL-SMITH SYNDROME | SOTOS-LIKE | HYPOPLASTIC CORPUS-CALLOSUM | GENETICS & HEREDITY | 1P32-P-31 DELETION SYNDROME | INTERHEMISPHERIC MIDLINE | CLINVAR PUBLIC ARCHIVE | INTRAGENIC DELETION | MALAN SYNDROME | GENOME-WIDE ASSOCIATION | Megalencephaly - genetics | Haploinsufficiency - genetics | Humans | Cerebral Cortex - pathology | Child, Preschool | Male | NFI Transcription Factors - genetics | Intellectual Disability - genetics | Mice, Knockout | Young Adult | Animals | Corpus Callosum - pathology | Adolescent | Polymorphism, Single Nucleotide - genetics | Adult | Female | Mice | Child | Codon, Nonsense - genetics | Cohort Studies | Transcription factors | Gene mutations | Physiological aspects | Genetic aspects | Research | Mental retardation | Risk factors | Macrocephaly | Life Sciences | Genetics | Human genetics
haploinsufficiency | macrocephaly | NFIB | nuclear factor I | developmental delay | chromosome 9p22.3 | megalencephaly | chromosome 9p23 | agenesis of the corpus callosum | intellectual disability | GENETIC-VARIATION | MARSHALL-SMITH SYNDROME | SOTOS-LIKE | HYPOPLASTIC CORPUS-CALLOSUM | GENETICS & HEREDITY | 1P32-P-31 DELETION SYNDROME | INTERHEMISPHERIC MIDLINE | CLINVAR PUBLIC ARCHIVE | INTRAGENIC DELETION | MALAN SYNDROME | GENOME-WIDE ASSOCIATION | Megalencephaly - genetics | Haploinsufficiency - genetics | Humans | Cerebral Cortex - pathology | Child, Preschool | Male | NFI Transcription Factors - genetics | Intellectual Disability - genetics | Mice, Knockout | Young Adult | Animals | Corpus Callosum - pathology | Adolescent | Polymorphism, Single Nucleotide - genetics | Adult | Female | Mice | Child | Codon, Nonsense - genetics | Cohort Studies | Transcription factors | Gene mutations | Physiological aspects | Genetic aspects | Research | Mental retardation | Risk factors | Macrocephaly | Life Sciences | Genetics | Human genetics
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 124 - 139
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and...
cell division | DNA replication | cilia | mitosis | Cell division | Mitosis | Cilia | PRIMORDIAL DWARFISM | STRAND BREAK REPAIR | SPINDLE ASSEMBLY CHECKPOINT | OVARIAN-CANCER | NERVOUS-SYSTEM DEVELOPMENT | ORIGIN RECOGNITION COMPLEX | GENETICS & HEREDITY | KILLER-CELL DEFICIENCY | HOMOLOGOUS RECOMBINATION | MEIER-GORLIN SYNDROME | DNA-LIGASE-IV | Cilia - physiology | Animals | Microcephaly - genetics | DNA Repair | Humans | Microcephaly - pathology | DNA Replication | DNA Damage | Mutation | Cellular signal transduction | Genetic disorders | DNA damage | Genomics
cell division | DNA replication | cilia | mitosis | Cell division | Mitosis | Cilia | PRIMORDIAL DWARFISM | STRAND BREAK REPAIR | SPINDLE ASSEMBLY CHECKPOINT | OVARIAN-CANCER | NERVOUS-SYSTEM DEVELOPMENT | ORIGIN RECOGNITION COMPLEX | GENETICS & HEREDITY | KILLER-CELL DEFICIENCY | HOMOLOGOUS RECOMBINATION | MEIER-GORLIN SYNDROME | DNA-LIGASE-IV | Cilia - physiology | Animals | Microcephaly - genetics | DNA Repair | Humans | Microcephaly - pathology | DNA Replication | DNA Damage | Mutation | Cellular signal transduction | Genetic disorders | DNA damage | Genomics
Journal Article
Neuron, ISSN 0896-6273, 12/2018, Volume 100, Issue 6, pp. 1354 - 1368.e5
Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that mutations in cause mega-corpus-callosum syndrome...
cerebellar hypoplasia | corpus callosum | microtubules | microdeletion | MAST1 | PROTEIN | CEREBRAL ORGANOIDS | POLYMICROGYRIA | MOUSE | AGENESIS | AXON GUIDANCE | FRAMEWORK | GENERATION | EXPRESSION | NEUROSCIENCES | GENOME | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Humans | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Developmental Disabilities - genetics | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Brain - metabolism | Developmental Disabilities - diagnostic imaging | Cerebellum - diagnostic imaging | Agenesis of Corpus Callosum - genetics | Female | Microtubule-Associated Proteins - deficiency | Nervous System Malformations - genetics | Child | Disease Models, Animal | Animals, Newborn | PAX6 Transcription Factor - metabolism | Agenesis of Corpus Callosum - diagnostic imaging | Mice, Inbred C57BL | Cells, Cultured | Malformations of Cortical Development - genetics | Mutation - genetics | Agenesis of Corpus Callosum - pathology | Malformations of Cortical Development - complications | Mice, Knockout | Agenesis of Corpus Callosum - complications | Nerve Tissue Proteins - metabolism | Animals | Nervous System Malformations - complications | Brain - pathology | Malformations of Cortical Development - diagnostic imaging | Mice | Developmental Disabilities - complications | TOR protein | Hypoplasia | Cerebellum | Phenotypes | Intellectual disabilities | Cortex | Cognitive ability | Amino acids | Genomes | Microcephaly | Neurodevelopmental disorders | Kinases | Patients | Corpus callosum | Cell adhesion & migration | 1-Phosphatidylinositol 3-kinase | Proteins | Autism | Convulsions & seizures | Microencephaly | Clonal deletion | Mutation
cerebellar hypoplasia | corpus callosum | microtubules | microdeletion | MAST1 | PROTEIN | CEREBRAL ORGANOIDS | POLYMICROGYRIA | MOUSE | AGENESIS | AXON GUIDANCE | FRAMEWORK | GENERATION | EXPRESSION | NEUROSCIENCES | GENOME | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Humans | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Developmental Disabilities - genetics | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Brain - metabolism | Developmental Disabilities - diagnostic imaging | Cerebellum - diagnostic imaging | Agenesis of Corpus Callosum - genetics | Female | Microtubule-Associated Proteins - deficiency | Nervous System Malformations - genetics | Child | Disease Models, Animal | Animals, Newborn | PAX6 Transcription Factor - metabolism | Agenesis of Corpus Callosum - diagnostic imaging | Mice, Inbred C57BL | Cells, Cultured | Malformations of Cortical Development - genetics | Mutation - genetics | Agenesis of Corpus Callosum - pathology | Malformations of Cortical Development - complications | Mice, Knockout | Agenesis of Corpus Callosum - complications | Nerve Tissue Proteins - metabolism | Animals | Nervous System Malformations - complications | Brain - pathology | Malformations of Cortical Development - diagnostic imaging | Mice | Developmental Disabilities - complications | TOR protein | Hypoplasia | Cerebellum | Phenotypes | Intellectual disabilities | Cortex | Cognitive ability | Amino acids | Genomes | Microcephaly | Neurodevelopmental disorders | Kinases | Patients | Corpus callosum | Cell adhesion & migration | 1-Phosphatidylinositol 3-kinase | Proteins | Autism | Convulsions & seizures | Microencephaly | Clonal deletion | Mutation
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2559 - 2569
Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be...
hemihypertrophy | nephroblastomatosis | PIK3CA‐related overgrowth | CLOVES | Wilms tumor | lipoma | hemihyperplasia | somatic mutation | PIK3CA-related overgrowth | PIK3CA-RELATED OVERGROWTH SPECTRUM | LIPOMATOUS OVERGROWTH | RISK | CHILDREN | KLIPPEL-TRENAUNAY-SYNDROME | GENETICS & HEREDITY | NEVI CLOVE-SYNDROME | VASCULAR MALFORMATIONS | ACTIVATING MUTATIONS | MARMORATA-TELANGIECTATICA-CONGENITA | Genetic Testing | Genetic Association Studies | Wilms Tumor - genetics | Humans | Child, Preschool | Infant | Male | Tomography, X-Ray Computed | Magnetic Resonance Imaging | Phenotype | Class I Phosphatidylinositol 3-Kinases | Alleles | Ultrasonography | Female | Heterozygote | Mutation | Child | Wilms Tumor - diagnosis | Amino Acid Substitution | Genetic aspects | Lymphatic diseases | Codon | Gene mutations | Nephroblastoma | Tumors
hemihypertrophy | nephroblastomatosis | PIK3CA‐related overgrowth | CLOVES | Wilms tumor | lipoma | hemihyperplasia | somatic mutation | PIK3CA-related overgrowth | PIK3CA-RELATED OVERGROWTH SPECTRUM | LIPOMATOUS OVERGROWTH | RISK | CHILDREN | KLIPPEL-TRENAUNAY-SYNDROME | GENETICS & HEREDITY | NEVI CLOVE-SYNDROME | VASCULAR MALFORMATIONS | ACTIVATING MUTATIONS | MARMORATA-TELANGIECTATICA-CONGENITA | Genetic Testing | Genetic Association Studies | Wilms Tumor - genetics | Humans | Child, Preschool | Infant | Male | Tomography, X-Ray Computed | Magnetic Resonance Imaging | Phenotype | Class I Phosphatidylinositol 3-Kinases | Alleles | Ultrasonography | Female | Heterozygote | Mutation | Child | Wilms Tumor - diagnosis | Amino Acid Substitution | Genetic aspects | Lymphatic diseases | Codon | Gene mutations | Nephroblastoma | Tumors
Journal Article